Magnus Nordenskjöld

Om mig
Publikationer
CV
Populärvetenskap och samverkan

Om mig

Senior professor
Husföreståndare BioClinicum

Artiklar

Article: CLINICAL CANCER RESEARCH. 2024;30(13):2764-2771

Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer.

Sivars L; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld M; Tham E; Hellman K
Article: NPJ PRECISION ONCOLOGY. 2024;8(1):44

Liquid biopsy guides successful molecular targeted therapy of an inoperable pediatric brainstem neoplasm.

Arthur C; Carlson L-M; Svoboda J; Sandvik U; Jylhä C; Nordenskjöld M; Holm S; Tham E
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2023;451:120707

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.

Paucar M; Laffita-Mesa J; Niemelä V; Malmgren H; Nennesmo I; Lagerstedt-Robinson K; Nordenskjöld M; Svenningsson P
Article: GENETICS IN MEDICINE. 2023;25(8):100856

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

Caron V; Chassaing N; Ragge N; Boschann F; Ngu AM-H; Meloche E; Chorfi S; Lakhani SA; Ji W; Steiner L; Marcadier J; Jansen PR; van de Pol LA; van Hagen JM; Russi AS; Le Guyader G; Nordenskjöld M; Nordgren A; Anderlid B-M; Plaisancié J; Stoltenburg C; Horn D; Drenckhahn A; Hamdan FF; Lefebvre M; Attie-Bitach T; Forey P; Smirnov V; Ernould F; Jacquemont M-L; Grotto S; Alcantud A; Coret A; Ferrer-Avargues R; Srivastava S; Vincent-Delorme C; Romoser S; Safina N; Saade D; Lupski JR; Calame DG; Geneviève D; Chatron N; Schluth-Bolard C; Myers KA; Dobyns WB; Calvas P; DDD Study; Salmon C; Holt R; Elmslie F; Allaire M; Prigozhin DM; Tremblay A; Michaud JL
Article: CANCERS. 2023;15(7):1972

Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma.

Arthur C; Jylhä C; de Ståhl TD; Shamikh A; Sandgren J; Rosenquist R; Nordenskjöld M; Harila A; Barbany G; Sandvik U; Tham E
Article: CANCERS. 2023;15(4):1160

Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.

Wallander K; Haider Z; Jeggari A; Foroughi-Asl H; Gellerbring A; Lyander A; Chozhan A; Cuba Gyllensten O; Hägglund M; Wirta V; Nordenskjöld M; Lindblad M; Tham E
Article: GYNECOLOGIC ONCOLOGY. 2022;167(1):107-114

Circulating cell-free tumor human papillomavirus DNA is a promising biomarker in cervical cancer.

Sivars L; Hellman K; Crona Guterstam Y; Holzhauser S; Nordenskjöld M; Falconer H; Palsdottir K; Tham E
Article: FRONTIERS IN ONCOLOGY. 2022;12:899325

Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study.

Arthur C; Rezayee F; Mogensen N; Saft L; Rosenquist R; Nordenskjöld M; Harila-Saari A; Tham E; Barbany G
Article: PLOS ONE. 2022;17(2):e0264056

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

Lagerstedt-Robinson K; Baranowska Körberg I; Tsiaprazis S; Björck E; Tham E; Poluha A; Hellström Pigg M; Paulsson-Karlsson Y; Nordenskjöld M; Johansson-Soller M; Aravidis C
Article: NATURE COMMUNICATIONS. 2021;12(1):6558

An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation.

Sabatier P; Beusch CM; Saei AA; Aoun M; Moruzzi N; Coelho A; Leijten N; Nordenskjöld M; Micke P; Maltseva D; Tonevitsky AG; Millischer V; Carlos Villaescusa J; Kadekar S; Gaetani M; Altynbekova K; Kel A; Berggren P-O; Simonson O; Grinnemo K-H; Holmdahl R; Rodin S; Zubarev RA
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2021;147(5):1742-1752

Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes.

Sahlén P; Spalinskas R; Asad S; Mahapatra KD; Höjer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Ståhle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjöld M; Taylan F; Bradley M; Tapia-Páez I
Article: GENOME MEDICINE. 2021;13(1):63

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; CAUSES Study; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; SPARK Consortium; Earl RK; Nowakowski T; Bernier RA; Eichler EE
Article: GENOME MEDICINE. 2021;13(1):40

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2021;192(1):200-211

Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.

Khandagale A; Holmlund T; Entesarian M; Nilsson D; Kalwak K; Klaudel-Dreszler M; Carlsson G; Henter J-I; Nordenskjöld M; Fadeel B
Article: PLOS ONE. 2021;16(2):e0245488

Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.

Wallander K; Eisfeldt J; Lindblad M; Nilsson D; Billiau K; Foroughi H; Nordenskjöld M; Liedén A; Tham E
Article: NATURE COMMUNICATIONS. 2020;11(1):4932

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; SPARK Consortium; Nordenskjöld M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Article: PEDIATRIC BLOOD & CANCER. 2020;67(4):e28184

Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease.

Torralba-Raga L; Tesi B; Chiang SCC; Schlums H; Nordenskjöld M; Horne A; Henter J-I; Meeths M; Abdelhaleem M; Weitzman S; Bryceson Y
Article: LEUKEMIA & LYMPHOMA. 2020;61(3):604-613

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.

Ivanov Öfverholm I; Zachariadis V; Taylan F; Marincevic-Zuniga Y; Tran AN; Saft L; Nilsson D; Syvänen A-C; Lönnerholm G; Harila-Saari A; Nordenskjöld M; Heyman M; Nordgren A; Nordlund J; Barbany G
Article: GENOME MEDICINE. 2019;11(1):68

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: SCIENCE ADVANCES. 2019;5(9):eaax2166

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H; Li Y; Shen L; Wang T; Jia X; Liu L; Xu T; Ou M; Hoekzema K; Wu H; Gillentine MA; Liu C; Ni H; Peng P; Zhao R; Zhang Y; Phornphutkul C; Stegmann APA; Prada CE; Hopkin RJ; Shieh JT; McWalter K; Monaghan KG; van Hasselt PM; van Gassen K; Bai T; Long M; Han L; Quan Y; Chen M; Zhang Y; Li K; Zhang Q; Tan J; Zhu T; Liu Y; Pang N; Peng J; Scott DA; Lalani SR; Azamian M; Mancini GMS; Adams DJ; Kvarnung M; Lindstrand A; Nordgren A; Pevsner J; Osei-Owusu IA; Romano C; Calabrese G; Galesi O; Gecz J; Haan E; Ranells J; Racobaldo M; Nordenskjold M; Madan-Khetarpal S; Sebastian J; Ball S; Zou X; Zhao J; Hu Z; Xia F; Liu P; Rosenfeld JA; de Vries BBA; Bernier RA; Xu Z-QD; Li H; Xie W; Hufnagel RB; Eichler EE; Xia K
Article: CANCER. 2019;125(11):1848-1854

Haploinsufficiency of UNC13D increases the risk of lymphoma.

Löfstedt A; Ahlm C; Tesi B; Bergdahl IA; Nordenskjöld M; Bryceson YT; Henter J-I; Meeths M
Article: NATURE MEDICINE. 2019;25(4):583-590

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Grigelioniene G; Suzuki HI; Taylan F; Mirzamohammadi F; Borochowitz ZU; Ayturk UM; Tzur S; Horemuzova E; Lindstrand A; Weis MA; Grigelionis G; Hammarsjö A; Marsk E; Nordgren A; Nordenskjöld M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):530-541

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B; Ehresmann S; Beauregard-Lacroix E; Rousseau J; Besnard T; Garcia T; Petrovski S; Avni S; McWalter K; Blackburn PR; Sanders SJ; Uguen K; Harris J; Cohen JS; Blyth M; Lehman A; Berg J; Li MH; Kini U; Joss S; von der Lippe C; Gordon CT; Humberson JB; Robak L; Scott DA; Sutton VR; Skraban CM; Johnston JJ; Poduri A; Nordenskjöld M; Shashi V; Gerkes EH; Bongers EMHF; Gilissen C; Zarate YA; Kvarnung M; Lally KP; Kulch PA; Daniels B; Hernandez-Garcia A; Stong N; McGaughran J; Retterer K; Tveten K; Sullivan J; Geisheker MR; Stray-Pedersen A; Tarpinian JM; Klee EW; Sapp JC; Zyskind J; Holla ØL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk ØL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Coban Akdemir ZH; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; CAUSES Study; Redon S; Bilan F; Legendre M; Troyer C; Whitlock K; Caluseriu O; Murphree MI; Pichurin PN; Agre K; Gavrilova R; Rinne T; Park M; Shain C; Heinzen EL; Xiao R; Amiel J; Lyonnet S; Isidor B; Biesecker LG; Lowenstein D; Posey JE; Denommé-Pichon A-S; Deciphering Developmental Disorders study; Férec C; Yang X-J; Rosenfeld JA; Gilbert-Dussardier B; Audebert-Bellanger S; Redon R; Stessman HAF; Nellaker C; Yang Y; Lupski JR; Goldstein DB; Eichler EE; Bolduc F; Bézieau S; Küry S; Campeau PM
Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; ADNP Consortium; Kvarnung M; Kleefstra T; de Vries BBA; Küry S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF
Article: FRONTIERS IN GENETICS. 2019;10:896

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.

Kvarnung M; Shahsavani M; Taylan F; Moslem M; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B-M; Nordenskjöld M; Syk Lundberg E; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Article: PLOS ONE. 2019;14(1):e0210017

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E; Gréen A; Gustavsson P; Liedén A; Nordenskjöld M; Papadogiannakis N; Pettersson K; Nilsson D; Jonasson J; Iwarsson E
Article: CLINICAL GENETICS. 2018;94(6):528-537

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.

Kvarnung M; Taylan F; Nilsson D; Anderlid B-M; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjöld M; Nordgren A; Lundberg ES
Article: CEREBELLUM. 2018;17(4):465-476

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.

Paucar M; Bergendal Å; Gustavsson P; Nordenskjöld M; Laffita-Mesa J; Savitcheva I; Svenningsson P
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2018;142(1):317-321.e8

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

Tesi B; Rascon J; Chiang SCC; Burnyte B; Löfstedt A; Fasth A; Heizmann M; Juozapaite S; Kiudeliene R; Kvedaraite E; Miseviciene V; Muleviciene A; Müller M-L; Nordenskjöld M; Matuzeviciene R; Samaitiene R; Speckmann C; Stankeviciene S; Zekas V; Voss M; Ehl S; Vaiciene-Magistris N; Henter J-I; Meeths M; Bryceson YT
Article: PLOS ONE. 2018;13(3):e0193928

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

Tran AN; Taylan F; Zachariadis V; Ivanov Öfverholm I; Lindstrand A; Vezzi F; Lötstedt B; Nordenskjöld M; Nordgren A; Nilsson D; Barbany G
Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR; Heymann G; Wang T; Coe BP; Turner TN; Stessman HAF; Hoekzema K; Kvarnung M; Shaw M; Friend K; Liebelt J; Barnett C; Thompson EM; Haan E; Guo H; Anderlid B-M; Nordgren A; Lindstrand A; Vandeweyer G; Alberti A; Avola E; Vinci M; Giusto S; Pramparo T; Pierce K; Nalabolu S; Michaelson JJ; Sedlacek Z; Santen GWE; Peeters H; Hakonarson H; Courchesne E; Romano C; Kooy RF; Bernier RA; Nordenskjöld M; Gecz J; Xia K; Zweifel LS; Eichler EE
Article: JOURNAL OF GENETIC COUNSELING. 2017;26(3):447-454

Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.

Georgsson S; Sahlin E; Iwarsson M; Nordenskjöld M; Gustavsson P; Iwarsson E
Article: PEDIATRIC DERMATOLOGY. 2017;34(3):e140-e141

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.

Fernandez K; Asad S; Taylan F; Wahlgren C-F; Bilcha KD; Nordenskjöld M; Winge MCG; Bradley M
Article: NATURE GENETICS. 2017;49(4):515-526

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HAF; Xiong B; Coe BP; Wang T; Hoekzema K; Fenckova M; Kvarnung M; Gerdts J; Trinh S; Cosemans N; Vives L; Lin J; Turner TN; Santen G; Ruivenkamp C; Kriek M; van Haeringen A; Aten E; Friend K; Liebelt J; Barnett C; Haan E; Shaw M; Gecz J; Anderlid B-M; Nordgren A; Lindstrand A; Schwartz C; Kooy RF; Vandeweyer G; Helsmoortel C; Romano C; Alberti A; Vinci M; Avola E; Giusto S; Courchesne E; Pramparo T; Pierce K; Nalabolu S; Amaral DG; Scheffer IE; Delatycki MB; Lockhart PJ; Hormozdiari F; Harich B; Castells-Nobau A; Xia K; Peeters H; Nordenskjöld M; Schenck A; Bernier RA; Eichler EE
Article: HUMAN MUTATION. 2017;38(2):180-192

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Nilsson D; Pettersson M; Gustavsson P; Förster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Mäkitie O; Wirta V; Käller M; Vezzi F; Lupski JR; Nordenskjöld M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: PLOS ONE. 2017;12(5):e0173565

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

Khare S; Nick JA; Zhang Y; Galeano K; Butler B; Khoshbouei H; Rayaprolu S; Hathorn T; Ranum LPW; Smithson L; Golde TE; Paucar M; Morse R; Raff M; Simon J; Nordenskjöld M; Wirdefeldt K; Rincon-Limas DE; Lewis J; Kaczmarek LK; Fernandez-Funez P; Nick HS; Waters MF
Article: FRONTIERS IN IMMUNOLOGY. 2017;8:426

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chiang SCC; Wood SM; Tesi B; Akar HH; Al-Herz W; Ammann S; Belen FB; Caliskan U; Kaya Z; Lehmberg K; Patiroglu T; Tokgoz H; Ünüvar A; Introne WJ; Henter J-I; Nordenskjöld M; Ljunggren H-G; Meeths M; Ehl S; Krzewski K; Bryceson YT
Article: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. 2016;30(11):1939-1941

The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.

Asad S; Winge MCG; Wahlgren C-F; Bilcha KD; Nordenskjöld M; Taylan F; Bradley M
Article: LEUKEMIA & LYMPHOMA. 2016;57(9):2161-2170

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.

Ivanov Öfverholm I; Tran AN; Olsson L; Zachariadis V; Heyman M; Rudd E; Syk Lundberg E; Nordenskjöld M; Johansson B; Nordgren A; Barbany G
Article: BLOOD. 2016;127(24):3026-3034

Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas.

Georgiou K; Chen L; Berglund M; Ren W; de Miranda NFCC; Lisboa S; Fangazio M; Zhu S; Hou Y; Wu K; Fang W; Wang X; Meng B; Zhang L; Zeng Y; Bhagat G; Nordenskjöld M; Sundström C; Enblad G; Dalla-Favera R; Zhang H; Teixeira MR; Pasqualucci L; Peng R; Pan-Hammarström Q
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(3):541-552

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HAF; Willemsen MH; Fenckova M; Penn O; Hoischen A; Xiong B; Wang T; Hoekzema K; Vives L; Vogel I; Brunner HG; van der Burgt I; Ockeloen CW; Schuurs-Hoeijmakers JH; Klein Wassink-Ruiter JS; Stumpel C; Stevens SJC; Vles HS; Marcelis CM; van Bokhoven H; Cantagrel V; Colleaux L; Nicouleau M; Lyonnet S; Bernier RA; Gerdts J; Coe BP; Romano C; Alberti A; Grillo L; Scuderi C; Nordenskjöld M; Kvarnung M; Guo H; Xia K; Piton A; Gerard B; Genevieve D; Delobel B; Lehalle D; Perrin L; Prieur F; Thevenon J; Gecz J; Shaw M; Pfundt R; Keren B; Jacquette A; Schenck A; Eichler EE; Kleefstra T
Article: CLINICAL GENETICS. 2016;89(1):99-103

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

Kvarnung M; Taylan F; Nilsson D; Albåge M; Nordenskjöld M; Anderlid BM; Nordgren A; Syk Lundberg E
Article: PLOS ONE. 2016;11(5):e0156088

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.

Sahlin E; Nordenskjöld M; Gustavsson P; Wincent J; Georgsson S; Iwarsson E
Article: GENOME MEDICINE. 2015;7:130

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Tesi B; Lagerstedt-Robinson K; Chiang SCC; Ben Bdira E; Abboud M; Belen B; Devecioglu O; Fadoo Z; Yeoh AEJ; Erichsen HC; Möttönen M; Akar HH; Hästbacka J; Kaya Z; Nunes S; Patiroglu T; Sabel M; Saribeyoglu ET; Tvedt TH; Unal E; Unal S; Unuvar A; Meeths M; Henter J-I; Nordenskjöld M; Bryceson YT
Article: PEDIATRIC BLOOD & CANCER. 2015;62(12):2094-2100

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.

Tesi B; Chiang SCC; El-Ghoneimy D; Hussein AA; Langenskiöld C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjöld M; Bryceson YT; Henter J-I; Meeths M
Article: KIDNEY INTERNATIONAL. 2015;88(5):1057-1069

Disruption of tubular Flcn expression as a mouse model for renal tumor induction.

Chen J; Huang D; Rubera I; Futami K; Wang P; Zickert P; Khoo S-K; Dykema K; Zhao P; Petillo D; Cao B; Zhang Z; Si S; Schoen SR; Yang XJ; Zhou M; Xiao G-Q; Wu G; Nordenskjöld M; Tauc M; Williams BO; Furge KA; Teh BT
Article: CLINICAL GENETICS. 2015;87(3):273-278

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

Mäkitie O; Geiberger S; Horemuzova E; Hagenäs L; Moström E; Nordenskjöld M; Grigelioniene G; Nordgren A
Article: PLOS GENETICS. 2015;11(3):e1005076

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.

Esparza-Gordillo J; Matanovic A; Marenholz I; Bauerfeind A; Rohde K; Nemat K; Lee-Kirsch M-A; Nordenskjöld M; Winge MCG; Keil T; Krüger R; Lau S; Beyer K; Kalb B; Niggemann B; Hübner N; Cordell HJ; Bradley M; Lee Y-A
Article: GENOMICS. 2015;105(3):150-158

Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations.

Karlsson K; Sahlin E; Iwarsson E; Westgren M; Nordenskjöld M; Linnarsson S
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122

CTNND2-a candidate gene for reading problems and mild intellectual disability.

Hofmeister W; Nilsson D; Topa A; Anderlid B-M; Darki F; Matsson H; Tapia Páez I; Klingberg T; Samuelsson L; Wirta V; Vezzi F; Kere J; Nordenskjöld M; Syk Lundberg E; Lindstrand A
Article: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. 2015;29(1):174-177

Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype.

Hoppe T; Winge MCG; Bradley M; Nordenskjöld M; Vahlquist A; Törmä H; Berne B
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjöld M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164A(7):1635-1641

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G; Geiberger S; Horemuzova E; Moström E; Jäntti N; Neumeyer L; Åström E; Nordenskjöld M; Nordgren A; Mäkitie O
Article: FRONTIERS IN IMMUNOLOGY. 2014;4:515

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

Müller M-L; Chiang SCC; Meeths M; Tesi B; Entesarian M; Nilsson D; Wood SM; Nordenskjöld M; Henter J-I; Naqvi A; Bryceson YT
Article: FETAL DIAGNOSIS AND THERAPY. 2014;36(4):326-332

Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases.

Sahlin E; Gustavsson P; Liedén A; Papadogiannakis N; Bjäreborn L; Pettersson K; Nordenskjöld M; Iwarsson E
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjöld M; Mäkitie O; Nordgren A
Article: NATURE COMMUNICATIONS. 2014;5:3195

Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment.

Rodin S; Antonsson L; Niaudet C; Simonson OE; Salmela E; Hansson EM; Domogatskaya A; Xiao Z; Damdimopoulou P; Sheikhi M; Inzunza J; Nilsson A-S; Baker D; Kuiper R; Sun Y; Blennow E; Nordenskjöld M; Grinnemo K-H; Kere J; Betsholtz C; Hovatta O; Tryggvason K
Article: PLOS ONE. 2014;9(9):e107712

Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor.

Lim ML; Ooi BNS; Jungebluth P; Sjöqvist S; Hultman I; Lemon G; Gustafsson Y; Asmundsson J; Baiguera S; Douagi I; Gilevich I; Popova A; Haag JC; Rodríguez AB; Lim J; Liedén A; Nordenskjöld M; Alici E; Baker D; Unger C; Luedde T; Vassiliev I; Inzunza J; Ahrlund-Richter L; Macchiarini P
Article: HUMAN MOLECULAR GENETICS. 2013;22(23):4841-4856

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

Weidinger S; Willis-Owen SAG; Kamatani Y; Baurecht H; Morar N; Liang L; Edser P; Street T; Rodriguez E; O'Regan GM; Beattie P; Fölster-Holst R; Franke A; Novak N; Fahy CM; Winge MCG; Kabesch M; Illig T; Heath S; Söderhäll C; Melén E; Pershagen G; Kere J; Bradley M; Lieden A; Nordenskjold M; Harper JI; McLean WHI; Brown SJ; Cookson WOC; Lathrop GM; Irvine AD; Moffatt MF
Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SCC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid B-M; Bryceson YT; Nordenskjöld M; Nordgren A
Article: BLOOD. 2013;121(8):1345-1356

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production.

Chiang SCC; Theorell J; Entesarian M; Meeths M; Mastafa M; Al-Herz W; Frisk P; Gilmour KC; Ifversen M; Langenskiöld C; Machaczka M; Naqvi A; Payne J; Perez-Martinez A; Sabel M; Unal E; Unal S; Winiarski J; Nordenskjöld M; Ljunggren H-G; Henter J-I; Bryceson YT
Article: ACTA PAEDIATRICA. 2013;102(1):78-82

Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?

Carlsson G; Kriström B; Nordenskjöld M; Henter J-I; Fadeel B
Article: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. 2013;27(1):e124-e127

Lack of association between filaggrin gene mutations and onset of psoriasis in childhood.

Winge MCG; Suneson J; Lysell J; Nikamo P; Liedén A; Nordenskjöld M; Wahlgren CF; Bradley M; Ståhle M
Article: ARCHIVES OF DERMATOLOGICAL RESEARCH. 2012;304(10):773-780

Characterization of EGFR and ErbB2 expression in atopic dermatitis patients.

Sääf A; Pivarcsi A; Winge MCG; Wahlgren C-F; Homey B; Nordenskjöld M; Tengvall-Linder M; Bradley M
Article: HUMAN REPRODUCTION. 2012;27(9):2843-2849

One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre.

Haapaniemi Kouru K; Malmgren H; Nordenskjöld M; Fridström M; Csemiczky G; Blennow E
Article: BRITISH JOURNAL OF DERMATOLOGY. 2012;167(3):514-522

X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments.

Hoppe T; Winge MCG; Bradley M; Nordenskjöld M; Vahlquist A; Berne B; Törmä H
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2012;158(3):363-369

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.

Carlsson G; Fasth A; Berglöf E; Lagerstedt-Robinson K; Nordenskjöld M; Palmblad J; Henter J-I; Fadeel B
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2012;167(2):181-187

Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors.

de Laat JM; Tham E; Pieterman CRC; Vriens MR; Dorresteijn JAN; Bots ML; Nordenskjöld M; van der Luijt RB; Valk GD
Article: BEHAVIOR GENETICS. 2012;42(4):509-527

The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language.

Anthoni H; Sucheston LE; Lewis BA; Tapia-Páez I; Fan X; Zucchelli M; Taipale M; Stein CM; Hokkanen M-E; Castrén E; Pennington BF; Smith SD; Olson RK; Tomblin JB; Schulte-Körne G; Nöthen M; Schumacher J; Müller-Myhsok B; Hoffmann P; Gilger JW; Hynd GW; Nopola-Hemmi J; Leppanen PHT; Lyytinen H; Schoumans J; Nordenskjöld M; Spencer J; Stanic D; Boon WC; Simpson E; Mäkelä S; Gustafsson J-Å; Peyrard-Janvid M; Iyengar S; Kere J
Article: PLOS ONE. 2012;7(11):e49694

Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.

Liedén A; Winge MCG; Sääf A; Kockum I; Ekelund E; Rodriguez E; Fölster-Holst R; Franke A; Illig T; Tengvall-Linder M; Baurecht H; Weidinger S; Wahlgren C-F; Nordenskjöld M; Bradley M
Article: BLOOD. 2011;118(22):5783-5793

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.

Meeths M; Chiang SCC; Wood SM; Entesarian M; Schlums H; Bang B; Nordenskjöld E; Björklund C; Jakovljevic G; Jazbec J; Hasle H; Holmqvist B-M; Rajic L; Pfeifer S; Rosthøj S; Sabel M; Salmi TT; Stokland T; Winiarski J; Ljunggren H-G; Fadeel B; Nordenskjöld M; Henter J-I; Bryceson YT
Article: BRITISH JOURNAL OF DERMATOLOGY. 2011;165(5):1074-1080

Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis.

Winge MCG; Bilcha KD; Liedén A; Shibeshi D; Sandilands A; Wahlgren C-F; McLean WHI; Nordenskjöld M; Bradley M
Article: JOURNAL OF CLINICAL INVESTIGATION. 2011;121(10):4043-4055

Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target.

Baryawno N; Rahbar A; Wolmer-Solberg N; Taher C; Odeberg J; Darabi A; Khan Z; Sveinbjörnsson B; FuskevÅg O-M; Segerström L; Nordenskjöld M; Siesjö P; Kogner P; Johnsen JI; Söderberg-Nauclér C
Article: HUMAN MUTATION. 2011;32(8):921-929

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Nahorski MS; Reiman A; Lim DHK; Nookala RK; Seabra L; Lu X; Fenton J; Boora U; Nordenskjöld M; Latif F; Hurst LD; Maher ER
Article: LEUKEMIA. 2011;25(4):622-628

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial.

Zachariadis V; Gauffin F; Kuchinskaya E; Heyman M; Schoumans J; Blennow E; Gustafsson B; Barbany G; Golovleva I; Ehrencrona H; Cavelier L; Palmqvist L; Lönnerholm G; Nordenskjöld M; Johansson B; Forestier E; Nordgren A; Nordic Society of Pediatric Hematology, Oncology (; Swedish Cytogenetic Leukemia Study Group (SCLSG)
Article: PEDIATRIC BLOOD & CANCER. 2011;56(3):444-451

Hematopoietic stem cell transplantation in severe congenital neutropenia.

Carlsson G; Winiarski J; Ljungman P; Ringdén O; Mattsson J; Nordenskjöld M; Touw I; Henter J-I; Palmblad J; Fadeel B; Hägglund H
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2011;156(2):115-124

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Bremer A; Giacobini M; Eriksson M; Gustavsson P; Nordin V; Fernell E; Gillberg C; Nordgren A; Uppströmer A; Anderlid B-M; Nordenskjöld M; Schoumans J
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;152(5):615-622

Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 protocol.

Kuchinskaya E; Heyman M; Nordgren A; Söderhäll S; Forestier E; Wehner P; Vettenranta K; Jonsson O; Wesenberg F; Sahlén S; Nordenskjöld M; Blennow E
Article: CLINICAL GENETICS. 2011;79(2):147-157

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

Wincent J; Anderlid B-M; Lagerberg M; Nordenskjöld M; Schoumans J
Article: PLOS ONE. 2011;6(12):e28254

Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris.

Winge MCG; Hoppe T; Berne B; Vahlquist A; Nordenskjöld M; Bradley M; Törmä H
Article: BMC MEDICAL GENOMICS. 2010;3:59

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.

Klomp JA; Petillo D; Niemi NM; Dykema KJ; Chen J; Yang XJ; Sääf A; Zickert P; Aly M; Bergerheim U; Nordenskjöld M; Gad S; Giraud S; Denoux Y; Yonneau L; Méjean A; Vasiliu V; Richard S; MacKeigan JP; Teh BT; Furge KA
Article: BLOOD. 2010;116(15):2635-2643

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

Meeths M; Entesarian M; Al-Herz W; Chiang SCC; Wood SM; Al-Ateeqi W; Almazan F; Boelens JJ; Hasle H; Ifversen M; Lund B; van den Berg JM; Gustafsson B; Hjelmqvist H; Nordenskjöld M; Bryceson YT; Henter J-I
Article: MOLECULAR IMMUNOLOGY. 2010;47(14):2388-2396

The proteasome inhibitor bortezomib disrupts tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and natural killer (NK) cell killing of TRAIL receptor-positive multiple myeloma cells.

Feng X; Yan J; Wang Y; Zierath JR; Nordenskjöld M; Henter J-I; Fadeel B; Zheng C
Article: PEDIATRIC BLOOD & CANCER. 2010;54(4):563-572

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

Meeths M; Bryceson YT; Rudd E; Zheng C; Wood SM; Ramme K; Beutel K; Hasle H; Heilmann C; Hultenby K; Ljunggren H-G; Fadeel B; Nordenskjöld M; Henter J-I
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2010;153B(1):280-285

Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.

Bremer A; Giacobini M; Nordenskjöld M; Brøndum-Nielsen K; Mansouri M; Dahl N; Anderlid B; Schoumans J
Article: NEUROENDOCRINOLOGY. 2010;91(4):318-323

First report on metastasizing small bowel carcinoids in first-degree relatives in three generations.

Järhult J; Landerholm K; Falkmer S; Nordenskjöld M; Sundler F; Wierup N
Article: PEDIATRIC BLOOD & CANCER. 2009;53(6):1143-1146

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.

Carlsson G; Elinder G; Malmgren H; Trebinska A; Grzybowska E; Dahl N; Nordenskjöld M; Fadeel B
Article: BLOOD. 2009;114(19):4117-4127

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.

Wood SM; Meeths M; Chiang SCC; Bechensteen AG; Boelens JJ; Heilmann C; Horiuchi H; Rosthøj S; Rutynowska O; Winiarski J; Stow JL; Nordenskjöld M; Henter J-I; Ljunggren H-G; Bryceson YT
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009;52(5):358-362

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A; Schoumans J; Nordenskjöld M; Anderlid B-M; Giacobini M
Article: HAEMATOLOGICA. 2009;94(4):470-478

Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity.

Wang X; Ottosson A; Ji C; Feng X; Nordenskjöld M; Henter J-I; Fadeel B; Zheng C
Article: ALLERGY. 2009;64(2):304-311

Cornulin, a marker of late epidermal differentiation, is down-regulated in eczema.

Liedén A; Ekelund E; Kuo I-C; Kockum I; Huang C-H; Mallbris L; Lee SP; Seng LK; Chin GY; Wahlgren C-F; Palmer CNA; Björkstén B; Ståhle M; Nordenskjöld M; Bradley M; Chua KY; D'Amato M
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;143(1):75-83

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.

Horne A; Ramme KG; Rudd E; Zheng C; Wali Y; al-Lamki Z; Gürgey A; Yalman N; Nordenskjöld M; Henter J-I
Article: JOURNAL OF INTERNAL MEDICINE. 2008;264(4):388-400

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

Carlsson G; van't Hooft I; Melin M; Entesarian M; Laurencikas E; Nennesmo I; Trebińska A; Grzybowska E; Palmblad J; Dahl N; Nordenskjöld M; Fadeel B; Henter J-I
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;142(3):469-479

Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells.

Zhang S; Ma D; Wang X; Celkan T; Nordenskjöld M; Henter J-I; Fadeel B; Zheng C
Article: PEDIATRIC BLOOD & CANCER. 2008;50(5):1067-1069

Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.

Ma D; Rudd E; Edner J; Gavhed S; Ramme KG; Fadeel B; Nordenskjöld M; Henter J-I; Zheng C
Article: JOURNAL OF MEDICAL GENETICS. 2008;45(3):134-141

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.

Rudd E; Bryceson YT; Zheng C; Edner J; Wood SM; Ramme K; Gavhed S; Gürgey A; Hellebostad M; Bechensteen AG; Ljunggren H-G; Fadeel B; Nordenskjöld M; Henter J-I
Article: HUMAN MUTATION. 2008;29(3):398-408

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

Díaz de Ståhl T; Sandgren J; Piotrowski A; Nord H; Andersson R; Menzel U; Bogdan A; Thuresson A-C; Poplawski A; von Tell D; Hansson CM; Elshafie AI; Elghazali G; Imreh S; Nordenskjöld M; Upadhyaya M; Komorowski J; Bruder CEG; Dumanski JP
Article: PLOS ONE. 2008;3(12):e4017

Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes.

Sääf AM; Tengvall-Linder M; Chang HY; Adler AS; Wahlgren C-F; Scheynius A; Nordenskjöld M; Bradley M
Article: BLOOD. 2007;110(6):1906-1915

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.

Bryceson YT; Rudd E; Zheng C; Edner J; Ma D; Wood SM; Bechensteen AG; Boelens JJ; Celkan T; Farah RA; Hultenby K; Winiarski J; Roche PA; Nordenskjöld M; Henter J-I; Long EO; Ljunggren H-G
Article: LAKARTIDNINGEN. 2007;104(36):2507-2508

[QF-PCR or karyotyping in amniocentesis most often not the woman's decision. Difficult to give basis for an informed choice].

Everhov AH; Nordenskjöld M; Björklund U; Persson E
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2007;92(9):3389-3395

Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

Tham E; Grandell U; Lindgren E; Toss G; Skogseid B; Nordenskjöld M
Article: NATURE GENETICS. 2007;39(8):966-968

Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice.

Kouznetsova A; Lister L; Nordenskjöld M; Herbert M; Höög C
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2007;50(3):237-241

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

Gustavsson P; Schoumans J; Staaf J; Borg A; Nordenskjöld M; Annerén G
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2007;144B(3):351-354

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).

Zhou X-L; Giacobini M; Anderlid B-M; Anckarsäter H; Omrani D; Gillberg C; Nordenskjöld M; Lindblom A
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2007;137(2):166-169

Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.

Karlsson J; Carlsson G; Ramme KG; Hägglund H; Fadeel B; Nordenskjöld M; Henter J-I; Palmblad J; Pütsep K; Andersson M
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2007;353(3):571-575

Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.

Melin M; Entesarian M; Carlsson G; Garwicz D; Klein C; Fadeel B; Nordenskjöld M; Palmblad J; Henter JI; Dahl N
Article: EXPERIMENTAL CELL RESEARCH. 2007;313(2):404-414

Phosphoinositide 3-kinase regulates a subset of interferon-alpha-stimulated genes.

Hjortsberg L; Lindvall C; Corcoran M; Arulampalam V; Chan D; Thyrell L; Nordenskjold M; Grandér D; Pokrovskaja K
Article: LAKARTIDNINGEN. 2006;103(50-52):4022-4027

[Kostmann's syndrome largely elucidated--by Swedish research. 50 years since Rolf Kostmann's pioneering work on severe congenital neutropenia].

Carlsson G; Garwicz D; Nordenskjöld M; Fadeel B; Palmblad J; Henter J-I
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2006;78(6):1060-1065

Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis.

Ekelund E; Saaf A; Tengvall-Linder M; Melen E; Link J; Barker J; Reynolds NJ; Meggitt SJ; Kere J; Wahlgren C-F; Pershagen G; Wickman M; Nordenskjold M; Kockum I; Bradley M
Article: HAEMATOLOGICA. 2006;91(5):589-595

Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.

Carlsson G; Aprikyan AAG; Ericson KG; Stein S; Makaryan V; Dale DC; Nordenskjöld M; Fadeel B; Palmblad J; Hentera J-I
Article: ALLERGY. 2006;61(5):617-621

Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population.

Bu LM; Bradley M; Söderhäll C; Wahlgren CF; Kockum I; Nordenskjold M
Article: INTERNATIONAL JOURNAL OF CANCER. 2006;118(8):2092-2097

Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4-1BB-L implicated in cell survival.

Ek S; Björck E; Högerkorp C-M; Nordenskjöld M; Porwit-MacDonald A; Borrebaeck CAK
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(4):e14

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.

Rudd E; Göransdotter Ericson K; Zheng C; Uysal Z; Ozkan A; Gürgey A; Fadeel B; Nordenskjöld M; Henter J-I
Article: INTERNATIONAL JOURNAL OF ONCOLOGY. 2006;28(3):605-617

Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines.

Karpova MB; Schoumans J; Blennow E; Ernberg I; Henter J-I; Smirnov AF; Nordenskjöld M; Fadeel B
Article: CLINICAL AND EXPERIMENTAL ALLERGY. 2006;36(2):204-210

Genome-wide linkage analysis of allergic rhinoconjunctivitis in a Swedish population.

Bu LM; Bradley M; Söderhäll C; Wahlgren CF; Kockum I; Nordenskjöld M
Article: HUMAN MUTATION. 2005;26(6):540-549

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

Buckley PG; Mantripragada KK; Díaz de Ståhl T; Piotrowski A; Hansson CM; Kiss H; Vetrie D; Ernberg IT; Nordenskjöld M; Bolund L; Sainio M; Rouleau GA; Niimura M; Wallace AJ; Evans DGR; Grigelionis G; Menzel U; Dumanski JP
Article: JOURNAL OF MEDICAL GENETICS. 2005;42(9):699-705

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

Schoumans J; Ruivenkamp C; Holmberg E; Kyllerman M; Anderlid B-M; Nordenskjöld M
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(3):290-300

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid B-M
Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2005;74(6):466-480

Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles.

Kuchinskaya E; Heyman M; Grandér D; Linderholm M; Söderhäll S; Zaritskey A; Nordgren A; Porwit-Macdonald A; Zueva E; Pawitan Y; Corcoran M; Nordenskjöld M; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2005;134(3):254-258

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).

Schoumans J; Sanner G; Nordenskjöld M; Anderlid B-M
Article: BLOOD. 2005;105(7):2908-2915

High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma.

Björck E; Ek S; Landgren O; Jerkeman M; Ehinger M; Björkholm M; Borrebaeck CAK; Porwit-MacDonald A; Nordenskjöld M
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(2):260-263

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

Schoumans J; Nordgren A; Ruivenkamp C; Brøndum-Nielsen K; Teh BT; Annéren G; Holmberg E; Nordenskjöld M; Anderlid B-M
Article: HAEMATOLOGICA. 2004;89(9):1072-1081

Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes.

Lindvall C; Furge K; Björkholm M; Guo X; Haab B; Blennow E; Nordenskjöld M; Teh BT
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2004;128A(4):340-351

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Stewart DR; Huang A; Faravelli F; Anderlid B-M; Medne L; Ciprero K; Kaur M; Rossi E; Tenconi R; Nordenskjöld M; Gripp KW; Nicholson L; Meschino WS; Capua E; Quarrell OWJ; Flint J; Irons M; Giampietro PF; Schowalter DB; Zaleski CA; Malacarne M; Zackai EH; Spinner NB; Krantz ID
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2004;12(6):447-454

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.

Schoumans J; Nielsen K; Jeppesen I; Anderlid B-M; Blennow E; Brøndum-Nielsen K; Nordenskjöld M
Article: HAEMATOLOGICA. 2004;89(6):686-695

Increased expression of Ki-67 in mantle cell lymphoma is associated with de-regulation of several cell cycle regulatory components, as identified by global gene expression analysis.

Ek S; Björck E; Porwit-MacDonald A; Nordenskjöld M; Borrebaeck CAK
Article: JOURNAL OF MEDICAL GENETICS. 2004;41(3):198-202

The performance of CGH array for the detection of cryptic constitutional chromosome imbalances.

Schoumans J; Anderlid B-M; Blennow E; Teh BT; Nordenskjöld M
Article: CANCER RESEARCH. 2003;63(15):4583-4587

Inactivation of BHD in sporadic renal tumors.

Khoo SK; Kahnoski K; Sugimura J; Petillo D; Chen J; Shockley K; Ludlow J; Knapp R; Giraud S; Richard S; Nordenskjöld M; Teh BT
Article: LEUKEMIA & LYMPHOMA. 2003;44(7):1229-1234

Molecular cytogenetic approach to the diagnosis of splenic lymphoma: a case report of blastoid mantle cell lymphoma.

Björck E; Landgren O; Schoumans J; Christensson B; Björkholm M; MacDonald AP; Nordenskjöld M
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2003;73(1):198-204

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Rahman N; Dunstan M; Teare MD; Hanks S; Douglas J; Coleman K; Bottomly WE; Campbell ME; Berglund B; Nordenskjöld M; Forssell B; Burrows N; Lunt P; Young I; Williams N; Bignell GR; Futreal PA; Pope FM
Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2003;11(4):529-533

Difference between Swedish and Japanese men in the association between AR CAG repeats and prostate cancer suggesting a susceptibility-modifying locus overlapping the androgen receptor gene.

Li C; Grönberg H; Matsuyama H; Weber G; Nordenskjöld M; Naito K; Bergh A; Bergerheim U; Damber J-E; Larsson C; Ekman P
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2003;11(1):89-92

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Anderlid B-M; Schoumans J; Hallqvist A; Ståhl Y; Wallin A; Blennow E; Nordenskjöld M
Article: HUMAN GENETICS. 2003;112(1):98-99

Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.

Ericson KG; Fadeel B; Andersson M; Gudmundsson GH; Gürgey A; Yalman N; Janka G; Nordenskjöld M; Henter J-I
Article: JOURNAL OF MEDICAL GENETICS. 2002;39(12):906-912

Clinical and genetic studies of Birt-Hogg-Dubé syndrome.

Khoo SK; Giraud S; Kahnoski K; Chen J; Motorna O; Nickolov R; Binet O; Lambert D; Friedel J; Lévy R; Ferlicot S; Wolkenstein P; Hammel P; Bergerheim U; Hedblad M-A; Bradley M; Teh BT; Nordenskjöld M; Richard S
Article: BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY. 2002;16(5):629-643

Prenatal diagnosis: molecular genetics and cytogenetics.

Bui T-H; Blennow E; Nordenskjöld M
Article: CLINICAL AND EXPERIMENTAL ALLERGY. 2002;32(8):1199-1202

Analysis of association and linkage for the interleukin-4 and interleukin-4 receptor b;alpha; regions in Swedish atopic dermatitis families.

Söderhäll C; Bradley M; Kockum I; Luthman H; Wahlgren C-F; Nordenskjöld M
Article: HUMAN MOLECULAR GENETICS. 2002;11(13):1539-1548

Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population.

Bradley M; Söderhäll C; Luthman H; Wahlgren C-F; Kockum I; Nordenskjöld M
Article: MOLECULAR HUMAN REPRODUCTION. 2002;8(5):502-510

Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations.

Malmgren H; Sahlén S; Inzunza J; Aho M; Rosenlund B; Fridström M; Hovatta O; Ahrlund-Richter L; Nordenskjöld M; Blennow E
Article: HUMAN GENETICS. 2002;110(5):439-443

FISH-mapping of a 100-kb terminal 22q13 deletion.

Anderlid B-M; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
Article: AIDS RESEARCH AND HUMAN RETROVIRUSES. 2002;18(5):383-390

Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations.

Castaños-Vélez E; Heiden T; Lindvall C; Capello D; Sandlund A; Imreh S; Blennow E; Andersson LC; Gaidano G; Nordenskjöld M; Biberfeld P
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2002;107(4):275-284

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

Anderlid B-M; Schoumans J; Annerén G; Sahlén S; Kyllerman M; Vujic M; Hagberg B; Blennow E; Nordenskjöld M
Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2002;68(1):31-41

Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases.

Nordgren A; Heyman M; Sahlén S; Schoumans J; Söderhäll S; Nordenskjöld M; Blennow E
Article: ACTA DERMATO-VENEREOLOGICA. 2001;81(5):340-342

The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis.

Bradley M; Söderhäll C; Wahlgren CF; Luthman H; Nordenskjöld M; Kockum I
Article: HUMAN GENETICS. 2001;109(5):551-558

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.

Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson A; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson NO; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
Article: HAEMATOLOGICA. 2001;86(11):1158-1164

Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements.

Lindvall C; Nordenskjöld M; Porwit A; Björkholm M; Blennow E
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2001;114(4):786-793

Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype.

Nordgren A; Schoumans J; Söderhäll S; Nordenskjöld M; Blennow E
Article: PRENATAL DIAGNOSIS. 2001;21(9):781-787

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities.

Fridström M; Ahrlund-Richter L; Iwarsson E; Malmgren H; Inzunza J; Rosenlund B; Sjöblom P; Nordenskjöld M; Blennow E; Hovatta O
Article: ONCOGENE. 2001;20(37):5239-5242

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

Khoo SK; Bradley M; Wong FK; Hedblad MA; Nordenskjöld M; Teh BT
Article: HUMAN GENETICS. 2001;109(2):129-135

Linkage and association to candidate regions in Swedish atopic dermatitis families.

Söderhäll C; Bradley M; Kockum I; Wahlgren CF; Luthman H; Nordenskjöld M
Article: LAKARTIDNINGEN. 2001;98(25):3024-3028

[Hereditary thyroid cancer can be cured by prophylactic surgery].

Wallin G; Bondesson AG; Farnebo LO; Hallengren B; Hamberger B; Jansson S; Nilsson O; Nordenskjöld M; Smeds S; Svensson KA; Wihlborg O; Zedenius J
Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2001;66(5):297-304

Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping.

Nordgren A; Farnebo F; Johansson B; Holmgren G; Forestier E; Larsson C; Söderhäll S; Nordenskjöld M; Blennow E
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2001;68(3):590-597

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

Göransdotter Ericson K; Fadeel B; Nilsson-Ardnor S; Söderhäll C; Samuelsson A; Janka G; Schneider M; Gürgey A; Yalman N; Révész T; Egeler R; Jahnukainen K; Storm-Mathiesen I; Haraldsson A; Poole J; de Saint Basile G; Nordenskjöld M; Henter J
Article: PRENATAL DIAGNOSIS. 2000;20(13):1038-1047

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers.

Iwarsson E; Malmgren H; Inzunza J; Ahrlund-Richter L; Sjöblom P; Rosenlund B; Fridström M; Hovatta O; Nordenskjöld M; Blennow E
Article: CANCER RESEARCH. 2000;60(22):6230-6235

Frequent amplification of the telomerase reverse transcriptase gene in human tumors.

Zhang A; Zheng C; Lindvall C; Hou M; Ekedahl J; Lewensohn R; Yan Z; Yang X; Henriksson M; Blennow E; Nordenskjöld M; Zetterberg A; Björkholm M; Gruber A; Xu D
Article: PRENATAL DIAGNOSIS. 2000;20(10):828-831

Early prenatal diagnosis of the ICF syndrome.

Björck EJ; Bui TH; Wijmenga C; Grandell U; Nordenskjöld M
Article: SEMINARS IN CANCER BIOLOGY. 2000;10(4):251-254

The biology of inherited cancer.

Lindblom A; Nordenskjöld M
Article: ACTA DERMATO-VENEREOLOGICA. 2000;80(2):106-110

Characterization by phenotype of families with atopic dermatitis.

Bradley M; Kockum I; Söderhäll C; Van Hage-Hamsten M; Luthman H; Nordenskjöld M; Wahlgren CF
Article: LAKARTIDNINGEN. 2000;97(6):548-549

[The genome project in its final phase: It will soon be possible to explain many of the brain diseases].

Nordenskjöld M
Article: HEMATOLOGY JOURNAL. 2000;1(2):95-101

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH.

Nordgren A; Farnebo F; Björkholm M; Sahlén S; Porwit-MacDonald A; Osby E; Kytölä S; Larsson C; Nordenskjöld M; Blennow E
Article: JOURNAL OF IMMUNOLOGY. 1999;163(4):2236-2242

A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families.

Vorechovský I; Blennow E; Nordenskjöld M; Webster AD; Hammarström L
Article: HUMAN GENETICS. 1999;104(5):376-382

A high degree of aneuploidy in frozen-thawed human preimplantation embryos.

Iwarsson E; Lundqvist M; Inzunza J; Ahrlund-Richter L; Sjöblom P; Lundkvist O; Simberg N; Nordenskjöld M; Blennow E
Article: CANCER GENETICS. 1999;111(1):32-36

Characterization of drug-resistant cell lines by comparative genomic hybridization.

Carlson KM; Gruber A; Liliemark E; Larsson R; Nordenskjöld M
Article: GENES CHROMOSOMES & CANCER. 1999;24(3):175-182

Distinct deleted regions on chromosome segment 16q23-24 associated with metastases in prostate cancer.

Li C; Berx G; Larsson C; Auer G; Aspenblad U; Pan Y; Sundelin B; Ekman P; Nordenskjöld M; van Roy F; Bergerheim US
Article: ACTA ONCOLOGICA. 1999;38(4):439-447

Hereditary cancer.

Lindblom A; Nordenskjöld M
Article: PRENATAL DIAGNOSIS. 1998;18(13):1381-1388

Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis.

Inzunza J; Iwarsson E; Fridström M; Rosenlund B; Sjöblom P; Hillensjö T; Blennow E; Jones B; Nordenskjöld M; Ahrlund-Richter L
Article: MOLECULAR HUMAN REPRODUCTION. 1998;4(9):871-875

Preimplantation genetic diagnosis of DiGeorge syndrome.

Iwarsson E; Ahrlund-Richter L; Inzunza J; Fridström M; Rosenlund B; Hillensjö T; Sjöblom P; Nordenskjöld M; Blennow E
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1998;83(8):2621-2626

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

Teh BT; Kytölä S; Farnebo F; Bergman L; Wong FK; Weber G; Hayward N; Larsson C; Skogseid B; Beckers A; Phelan C; Edwards M; Epstein M; Alford F; Hurley D; Grimmond S; Silins G; Walters M; Stewart C; Cardinal J; Khodaei S; Parente F; Tranebjaerg L; Jorde R; Salmela P
Article: MOLECULAR HUMAN REPRODUCTION. 1998;4(7):719-723

Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5.

Iwarsson E; Ahrlund-Richter L; Inzunza J; Rosenlund B; Fridström M; Hillensjö T; Sjöblom P; Nordenskjöld M; Blennow E
Article: HUMAN MUTATION. 1998;Suppl 1:S31-S33

Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.

Li C; Weber G; Ekman P; Lagercrantz J; Norlen BJ; Akerström G; Nordenskjöld M; Bergerheim US
Article: GENES CHROMOSOMES & CANCER. 1997;20(4):419-424

1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization.

Carlson KM; Bruder C; Nordenskjöld M; Dumanski JP
Article: CANCER GENETICS. 1997;99(2):93-96

A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes.

Nordgren A; Nordenskjöld M; Söderhäll S; Porwit-MacDonald A; Blennow E
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1997;82(12):4258-4265

Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern.

Enmark E; Pelto-Huikko M; Grandien K; Lagercrantz S; Lagercrantz J; Fried G; Nordenskjöld M; Gustafsson JA
Article: HUMAN GENETICS. 1997;101(1):51-55

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer.

Tannergård P; Liu T; Weger A; Nordenskjöld M; Lindblom A
Article: LEUKEMIA. 1997;11(4):594-598

Expression of LAZ3/BCL6 in follicular center (FC) B cells of reactive lymph nodes and FC-derived non-Hodgkin lymphomas.

Bajalica-Lagercrantz S; Piehl F; Lagercrantz J; Lindahl J; Weber G; Kerckeart JP; Porwit-MacDonald A; Nordenskjöld M
Article: HUMAN GENETICS. 1996;99(1):130-132

Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1.

Weber G; Grimmond S; Lagercrantz J; Friedman E; Phelan C; Carson E; Hayward N; Jacobovitz O; Nordenskjöld M; Larsson C
Article: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 1996;276(19):1575-1579

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

Eng C; Clayton D; Schuffenecker I; Lenoir G; Cote G; Gagel RF; van Amstel HK; Lips CJ; Nishisho I; Takai SI; Marsh DJ; Robinson BG; Frank-Raue K; Raue F; Xue F; Noll WW; Romei C; Pacini F; Fink M; Niederle B; Zedenius J; Nordenskjöld M; Komminoth P; Hendy GN; Mulligan LM
Article: CANCER GENETICS. 1996;90(2):102-105

Duplication of 2q31-qter as a sole aberration in a case of non-Hodgkin's lymphoma.

Bajalica-Lagercrantz S; Tingaard Pedersen N; Sørensen AG; Nordenskjöld M
Article: HUMAN GENETICS. 1996;98(2):185-188

Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gs alpha gene.

DeMarco L; Stratakis CA; Boson WL; Jakbovitz O; Carson E; Andrade LM; Amaral VF; Rocha JL; Choursos GP; Nordenskjöld M; Friedman E
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 1996;223(2):335-340

Sequence and expression of the mouse homologue to human phospholipase C beta3 neighboring gene.

Lagercrantz J; Kedra D; Carson E; Nordenskjöld M; Dumanski JP; Weber G; Piehl F
Article: CHROMOSOME RESEARCH. 1996;4(4):310-313

Mapping of a new MAP kinase activated protein kinase gene (3PK) to human chromosome band 3p21.2 and ordering of 3PK and two cosmid markers in the 3p22-p21 tumour-suppressor region by two-colour fluorescence in situ hybridization.

Szeles A; Bajalica-Lagercrantz S; Lindblom A; Lushnikova T; Kashuba VI; Imreh S; Nordenskjöld M; Klein G; Zabarovsky ER
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 1996;220(3):922-928

Characterization of the murine VEGF-related factor gene.

Townson S; Lagercrantz J; Grimmond S; Silins G; Nordenskjöld M; Weber G; Hayward N
Article: LAKARTIDNINGEN. 1996;93(10):908-910

[Nobody will be punished for one's own hereditary disposition. Genetic information should be protected by law].

Lindblom A; Nordenskjöld M
Article: GENOME RESEARCH. 1996;6(2):124-131

Cloning and characterization of a novel human gene related to vascular endothelial growth factor.

Grimmond S; Lagercrantz J; Drinkwater C; Silins G; Townson S; Pollock P; Gotley D; Carson E; Rakar S; Nordenskjöld M; Ward L; Hayward N; Weber G
Article: GENOMICS. 1996;31(3):380-384

Isolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13.

Lagercrantz J; Carson E; Larsson C; Nordenskjöld M; Weber G
Article: NEUROREPORT. 1995;6(18):2542-2544

Expression of the phosphoinositide-specific phospholipase Cbeta3 gene in the rat.

Lagercrantz J; Piehl F; Nordenskjold M; Larsson C; Weber G
Article: CANCER RESEARCH. 1995;55(24):6092-6096

Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families.

Tannergård P; Lipford JR; Kolodner R; Frödin JE; Nordenskjöld M; Lindblom A
Article: CANCER GENETICS. 1995;84(1):56-59

Analysis of microsatellite repeats in pediatric brain tumors.

Amariglio N; Friedman E; Mor O; Stiebel H; Phelan C; Collins P; Nordenskjold M; Brok-Simoni F; Rechavi G
Article: JOURNAL OF INTERNAL MEDICINE. 1995;238(3):245-248

Candidate genes for multiple endocrine neoplasia type 1.

Lagercrantz J; Larsson C; Grimmond S; Skogseid B; Gobl A; Friedman E; Carson E; Phelan C; Oberg K; Nordenskjöld M
Article: GENES CHROMOSOMES & CANCER. 1995;13(1):34-39

Characterization of add(1)(p36) in non-Hodgkin lymphomas by fluorescence in situ hybridization.

Bajalica S; Brøndum-Nielsen K; Sørensen AG; Pedersen NT; Kristoffersson U; Akerman M; Anderson M; Pisa P; Nordenskjöld M
Article: GENOMICS. 1995;26(3):467-472

Genomic organization and complete cDNA sequence of the human phosphoinositide-specific phospholipase C beta 3 gene (PLCB3).

Lagercrantz J; Carson E; Phelan C; Grimmond S; Rosén A; Daré E; Nordenskjöld M; Hayward NK; Larsson C; Weber G
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 1995;55(1):85-94

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.

Blennow E; Nielsen KB; Telenius H; Carter NP; Kristoffersson U; Holmberg E; Gillberg C; Nordenskjöld M
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Genetiska sjukdomar
Review: ACTA PAEDIATRICA. 2021;110(11):2912-2920

Kostmann disease and other forms of severe congenital neutropenia.

Fadeel B; Garwicz D; Carlsson G; Sandstedt B; Nordenskjöld M
Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; SPARK Consortium; Nordenskjöld M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Review: JOURNAL OF INTERNAL MEDICINE. 2019;286(2):118-136

Cell-free tumour DNA testing for early detection of cancer - a potential future tool.

Barbany G; Arthur C; Liedén A; Nordenskjöld M; Rosenquist R; Tesi B; Wallander K; Tham E
Editorial comment: ACTA DERMATO-VENEREOLOGICA. 2019;99(1):101-102

Evaluation of Single Nucleotide Variants in Ethiopian Patients with Atopic Dermatitis.

Asad S; Tapia-Páez I; Montano Montes A; Wahlgren C-F; Bilcha KD; Nordenskjöld M; Bradley M
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016;170A(1):266-269

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Hammarsjö A; Nordgren A; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Wedrén S; Nordenskjöld M; Nishimura G; Grigelioniene G
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2015;136(2):507-9.e19

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

Taylan F; Nilsson D; Asad S; Lieden A; Wahlgren C-F; Winge MCG; Bilcha KD; Nordenskjöld M; Bradley M
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2015;135(6):1638-1641

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

Tesi B; Sieni E; Neves C; Romano F; Cetica V; Cordeiro AI; Chiang S; Schlums H; Galli L; Avenali S; Tondo A; Canessa C; Henter J-I; Nordenskjöld M; Hsu AP; Holland SM; Neves JF; Azzari C; Bryceson YT
Letter: CLINICAL GENETICS. 2015;87(5):496-498

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.

Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjö A; Armenio M; Mäkitie O; Zabel B; Nordgren A; Nordenskjöld M; Grigelioniene G
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2014;134(1):226-228

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.

Borte S; Meeths M; Liebscher I; Krist K; Nordenskjöld M; Hammarström L; von Döbeln U; Henter J-I; Bryceson YT
Letter: LEUKEMIA. 2014;28(1):196-198

Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization.

Zachariadis V; Schoumans J; Ofverholm I; Barbany G; Halvardsson E; Forestier E; Johansson B; Nordenskjöld M; Nordgren A
Letter: LEUKEMIA. 2013;27(9):1936-1939

Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols.

Ofverholm I; Tran AN; Heyman M; Zachariadis V; Nordenskjöld M; Nordgren A; Barbany G
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2013;162(3):415-418

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

Entesarian M; Chiang SCC; Schlums H; Meeths M; Chan M-Y; Mya S-N; Soh S-Y; Nordenskjöld M; Henter J-I; Bryceson YT
Letter: ACTA DERMATO-VENEREOLOGICA. 2013;93(3):366-367

Are BIC (miR-155) polymorphisms associated with eczema susceptibility?

Sääf A; Kockum I; Wahlgren C-F; Xu N; Sonkoly E; Ståhle M; Nordenskjöld M; Bradley M; Pivarcsi A
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2012;159(4):488-491

Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation.

Zachariadis V; Schoumans J; Barbany G; Heyman M; Forestier E; Johansson B; Nordenskjöld M; Nordgren A
Review: LAKARTIDNINGEN. 2011;108(50):2657-2659

[Birth-Hogg-Dube syndrome--a neglected condition that increases the risk of kidney cancer and pneumothorax].

Bradley M; Hedblad M-A; Björck E; Nordenskjöld M
Letter: JOURNAL OF DERMATOLOGICAL SCIENCE. 2011;63(1):62-64

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.

Winge MCG; Hoppe T; Liedén A; Nordenskjöld M; Vahlquist A; Wahlgren C-F; Törmä H; Bradley M; Berne B
Letter: LEUKEMIA. 2011;25(5):868-872

HAX-1 expression in human B lymphoma.

Kwiecinska A; Ottosson-Wadlund A; Ceder R; Grafström RC; Björck E; Nordenskjöld M; Porwit A; Fadeel B
Review: LAKARTIDNINGEN. 2010;107(17):1144-1149

[Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis].

Anderlid B-M; Blennow E; Giacobini M; Nordgren A; Wincent J; Schoumans J; Nordenskjöld M
Review: LANCET ONCOLOGY. 2009;10(12):1199-1206

Birt-Hogg-Dubé syndrome: diagnosis and management.

Menko FH; van Steensel MAM; Giraud S; Friis-Hansen L; Richard S; Ungari S; Nordenskjöld M; Hansen TV; Solly J; Maher ER; European BHD Consortium
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2009;147(4):587-590

Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy.

Lundén L; Boxhammer S; Carlsson G; Ellström K-G; Nordenskjöld M; Lagerstedt-Robinson K; Fadeel B
Letter: LEUKEMIA. 2009;23(3):622-625

Survivin expression in the bone marrow of patients with severe congenital neutropenia.

Carlsson G; Boxhammer S; Garwicz D; Henter JI; Palmblad J; Nordenskjöld M; Porwit A; Fadeel B
Corrigendum: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2009;106(14):6023

Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome (vol 106, pg 468, 2008)

Chan C-B; Abe M; Hashimoto N; Hao C; Williams IR; Liu X; Nakao S; Yamamoto A; Zheng C; Henter J-I; Meeths M; Nordenskjold M; Li S-Y; Hara-Nishimura I; Asano M; Ye K
Review: ACTA PAEDIATRICA. 2007;96(6):813-819

Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.

Carlsson G; Melin M; Dahl N; Ramme KG; Nordenskjöld M; Palmblad J; Henter J-I; Fadeel B
Letter: LEUKEMIA. 2007;21(6):1327-1330

Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?

Kuchinskaya E; Nordgren A; Heyman M; Schoumans J; Corcoran M; Staaf J; Borg A; Söderhäll S; Grandér D; Nordenskjöld M; Blennow E
Review: ACTA PAEDIATRICA. 2006;95(12):1526-1532

Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia.

Carlsson G; Andersson M; Pütsep K; Garwicz D; Nordenskjöld M; Henter J-I; Palmblad J; Fadeel B
Letter: CLINICAL GENETICS. 2006;69(5):441-443

Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.

Gustavsson P; Schoumans J; Staaf J; Jönsson G; Carlsson F; Kristoffersson U; Borg A; Nordenskjöld M; Dahl N
Letter: LEUKEMIA. 2005;19(1):159-161

Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line.

Karpova MB; Schoumans J; Ernberg I; Henter J-I; Nordenskjöld M; Fadeel B
Published conference paper: CANCER RESEARCH. 2003;63(8):1743-1747

Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling: activation of the epiregulin gene.

Lindvall C; Hou M; Komurasaki T; Zheng C; Henriksson M; Sedivy JM; Björkholm M; Teh BT; Nordenskjöld M; Xu D
Review: SEMINARS IN CANCER BIOLOGY. 2000;10(4):299-312

Multiple endocrine neoplasia type 1.

Ki Wong F; Burgess J; Nordenskjöld M; Larsson C; Tean Teh B
Review: ANTICANCER RESEARCH. 1999;19(6A):4715-4728

Tumor suppressor genes (TSG).

Teh BT; Larsson C; Nordenskjöld M
Review: LAKARTIDNINGEN. 1999;96(32-33):3392-3396

[Identification of cancer genes has made the testing of predisposition possible. Genetic counseling and mutation screening can result in new therapeutic methods].

Nordenskjöld M
Meeting abstract: PEDIATRIC RESEARCH. 1999;45(4):144A

Characterization of chromosomal changes in 17 children with acute lymphoblastic leukemia and hyperdiploidy using spectral karyotyping (SKY)

Blennow E; Nordgren A; Farnebo F; Soderhall S; Nordenskjold M
Letter: AMERICAN JOURNAL OF HUMAN GENETICS. 1998;63(5):1544-1549

A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.

Teh BT; Esapa CT; Houlston R; Grandell U; Farnebo F; Nordenskjöld M; Pearce CJ; Carmichael D; Larsson C; Harris PE
Review: LAKARTIDNINGEN. 1997;94(35):2919-2922

[Preimplantation genetic diagnosis. An alternative to traditional prenatal diagnosis].

Iwarsson E; Blennow ES; Anvret M; Nordenskjöld M; Inzunza J; Ahrlund-Richter L; Pousette A; Hillensjó T; Fridström M; Rosenlund B; Sjöblom P
Letter: EUROPEAN JOURNAL OF HAEMATOLOGY. 1996;56(5):323-325

Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) after treatment with cyclophosphamide, alpha-interferon and betamethasone in a patient with multiple myeloma.

Björck E; Samuelsson J
Letter: NATURE MEDICINE. 1995;1(11):1104

Finnish mutations in Swedish HNPCC families.

Tannergård P; Nordenskjöld M; Lindblom A
Other: HUMAN GENETICS. 1995;95(4):455-458

Exclusion of the 13-kDa rapamycin binding protein gene (FKBP2) as a candidate gene for multiple endocrine neoplasia type 1.

Grimmond S; Weber G; Larsson C; Walters M; Teh B; Shepherd J; Nordenskjold M; Hayward N
Addendum: NATURE MEDICINE. 1995;1(12):1319

FINNISH MUTATIONS IN SWEDISH HNPCC FAMILIES (VOL 1, PG 1104, 1995)

TANNERGARD P; NORDENSKJOLD M; LINDBLOM A; LYSTROMLAHTI M; DELACHAPELLE A; PELTOMAKI P
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Professor, Klinisk genetik, Molekylär medicin och kirurgi, Karolinska Institutet, 1993-
Överläkare och verksamhetschef, ME Klinisk genetik och genomik, Karolinska Universitetssjukhuset, 1991-2017

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