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Magnus Nordenskjöld

Professor, senior

Om mig

Även överläkare och verksamhetschef för Klinisk Genetik vid Karolinska Universitetssjukhuset 

Publikationer

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, et al
PloS one 2017;12(5):e0173565-

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, et al
Frontiers in immunology 2017;8():426-

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker Mr, Heymann G, Wang T, Coe Bp, Turner Tn, Stessman Haf, et al
Nature neuroscience 2017;20(8):1043-1051

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis
Fernandez K, Asad S, Taylan F, Wahlgren Cf, Bilcha Kd, Nordenskjöld M, et al
Pediatric dermatology 2017;34(3):e140-e141

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
Journal of genetic counseling 2017;26(3):447-454

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman Ha, Xiong B, Coe Bp, Wang T, Hoekzema K, Fenckova M, et al
Nature genetics 2017;49(4):515-526

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, et al
Human mutation 2017;38(2):180-192

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, et al
Leukemia & lymphoma 2016;57(9):2161-70

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Stessman Haf, Willemsen Mh, Fenckova M, Penn O, Hoischen A, Xiong B, et al
American journal of human genetics 2016;98(3):541-552

Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas
Georgiou K, Chen L, Berglund M, Ren W, De Miranda Nf, Lisboa S, et al
Blood 2016;127(24):3026-34

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid Bm, et al
Clinical genetics 2016;89(1):99-103

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, et al
American journal of medical genetics. Part A 2016;170A(1):266-9

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
PloS one 2016;11(5):e0156088-

The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians
Asad S, Winge Mc, Wahlgren Cf, Bilcha Kd, Nordenskjöld M, Taylan F, et al
Journal of the European Academy of Dermatology and Venereology : JEADV 2016;30(11):1939-1941

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
Genomics 2015;105(3):150-8

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, et al
Clinical genetics 2015;87(5):496-8

CTNND2-a candidate gene for reading problems and mild intellectual disability
Hofmeister W, Nilsson D, Topa A, Anderlid Bm, Darki F, Matsson H, et al
Journal of medical genetics 2015;52(2):111-22

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, et al
Kidney international 2015;88(5):1057-69

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency
Tesi B, Sieni E, Neves C, Romano F, Cetica V, Cordeiro Ai, et al
The Journal of allergy and clinical immunology 2015;135(6):1638-41

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, et al
PLoS genetics 2015;11(3):e1005076-

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, Nordenskjold M, Vahlquist A, Torma H, et al
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY 2015;29(1):174-7

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, et al
Clinical genetics 2015;87(3):273-8

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations
Tesi B, Chiang Sc, El-ghoneimy D, Hussein Aa, Langenskiöld C, Wali R, et al
Pediatric blood & cancer 2015;62(12):2094-100

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Tesi B, Lagerstedt-robinson K, Chiang Sc, Ben Bdira E, Abboud M, Belen B, et al
Genome medicine 2015;7():130-

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis
Taylan F, Nilsson D, Asad S, Lieden A, Wahlgren Cf, Winge Mc, et al
The Journal of allergy and clinical immunology 2015;136(2):507-9.e19

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2
Müller Ml, Chiang Sc, Meeths M, Tesi B, Entesarian M, Nilsson D, et al
Frontiers in immunology 2014;4():515-

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, et al
American journal of medical genetics. Part A 2014;164A(7):1635-41

Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor
Lim Ml, Ooi Bn, Jungebluth P, Sjöqvist S, Hultman I, Lemon G, et al
PloS one 2014;9(9):e107712-

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, et al
Nature communications 2014;5():3195-

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, et al
The Journal of allergy and clinical immunology 2014;134(1):226-8

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, et al
Leukemia 2014;28(1):196-8

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid Bm, et al
JOURNAL OF MEDICAL GENETICS 2014;51(1):45-54

Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases
Sahlin E, Gustavsson P, Lieden A, Papadogiannakis N, Bjareborn L, Pettersson K, et al
FETAL DIAGNOSIS AND THERAPY 2014;36(4):326-32

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, et al
American journal of human genetics 2014;95(3):285-93

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 Lm, et al
HUMAN MOLECULAR GENETICS 2013;22(23):4841-56

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 Sc, Blennow E, et al
Journal of medical genetics 2013;50(8):521-8

Are BIC (miR-155) Polymorphisms Associated with Eczema Susceptibility?
Saaf A, Kockum I, Wahlgren Cf, Xu N, Sonkoly E, Stahle M, et al
ACTA DERMATO-VENEREOLOGICA 2013;93(3):366-7

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 Sc, Theorell J, Entesarian M, Meeths M, Mastafa M, Al-herz W, et al
Blood 2013;121(8):1345-56

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, et al
Leukemia 2013;27(9):1936-9

Lack of association between filaggrin gene mutations and onset of psoriasis in childhood
Winge Mc, Suneson J, Lysell J, Nikamo P, Liedén A, Nordenskjöld M, et al
Journal of the European Academy of Dermatology and Venereology : JEADV 2013;27(1):e124-7

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3
Entesarian M, Chiang Sc, Schlums H, Meeths M, Chan My, Mya Sn, et al
British journal of haematology 2013;162(3):415-8

Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?
Carlsson G, Kristrom B, Nordenskjold M, Henter Ji, Fadeel B
ACTA PAEDIATRICA 2013;102(1):78-82

Characterization of EGFR and ErbB2 expression in atopic dermatitis patients
Sääf A, Pivarcsi A, Winge Mc, Wahlgren Cf, Homey B, Nordenskjöld M, et al
Archives of dermatological research 2012;304(10):773-80

Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis
Liedén A, Winge Mc, Sääf A, Kockum I, Ekelund E, Rodriguez E, et al
PloS one 2012;7(11):e49694-

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, et al
British journal of haematology 2012;159(4):488-91

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
Carlsson G, Fasth A, Berglof E, Lagerstedt-robinson K, Nordenskjold M, Palmblad J, et al
BRITISH JOURNAL OF HAEMATOLOGY 2012;158(3):363-9

One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre
Kouru Kh, Malmgren H, Nordenskjold M, Fridstrom M, Csemiczky G, Blennow E
HUMAN REPRODUCTION 2012;27(9):2843-9

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, et al
EUROPEAN JOURNAL OF ENDOCRINOLOGY 2012;167(2):181-7

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-paez I, Fan Xt, Zucchelli M, et al
BEHAVIOR GENETICS 2012;42(4):509-27

X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments
Hoppe T, Winge Mcg, Bradley M, Nordenskjold M, Vahlquist A, Berne B, et al
BRITISH JOURNAL OF DERMATOLOGY 2012;167(3):514-22

[Birth-Hogg-Dube syndrome--a neglected condition that increases the risk of kidney cancer and pneumothorax]
Bradley M, Hedblad Ma, Björck E, Nordenskjöld M
Lakartidningen 2011;108(50):2657-9

Birt Hogg-Dube Syndrome-Associated FLCN Mutations Disrupt Protein Stability
Nahorski Ms, Reiman A, Lim Dhk, Nookala Rk, Seabra L, Lu Xh, et al
HUMAN MUTATION 2011;32(8):921-9

Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders
Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2011;156B(2):115-24

Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target
Baryawno N, Rahbar A, Wolmer-solberg N, Taher C, Odeberg J, Darabi A, et al
JOURNAL OF CLINICAL INVESTIGATION 2011;121(10):4043-55

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, et al
BLOOD 2011;118(22):5783-93

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, Nordenskjold M, Bradley M, et al
PLOS ONE 2011;6(12):e28254-

FREQUENCY OF PRF1, STX11 AND UNC13D MUTATIONS IN PATIENTS WITH A GENETIC DIAGNOSIS OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
Entesarian M, Meeths M, Rudd E, Nordenskjold M, Henter Ji
PEDIATRIC BLOOD & CANCER 2011;56(4):693-693

HAX-1 expression in human B lymphoma
Kwiecinska A, Ottosson-wadlund A, Ceder R, Grafstrom Rc, Bjorck E, Nordenskjold M, et al
LEUKEMIA 2011;25(5):868-72

Hematopoietic Stem Cell Transplantation in Severe Congenital Neutropenia
Carlsson G, Winiarski J, Ljungman P, Ringden O, Mattsson J, Nordenskjold M, et al
PEDIATRIC BLOOD & CANCER 2011;56(3):444-51

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
Wincent J, Anderlid Bm, Lagerberg M, Nordenskjold M, Schoumans J
CLINICAL GENETICS 2011;79(2):147-57

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, Soderhall S, Forestier E, Wehner P, et al
BRITISH JOURNAL OF HAEMATOLOGY 2011;152(5):615-22

Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis
Winge Mcg, Bilcha Kd, Lieden A, Shibeshi D, Sandilands A, Wahlgren Cf, et al
BRITISH JOURNAL OF DERMATOLOGY 2011;165(5):1074-80

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis
Winge Mcg, Hoppe T, Lieden A, Nordenskjold M, Vahlquist A, Wahlgren Cf, et al
JOURNAL OF DERMATOLOGICAL SCIENCE 2011;63(1):62-4

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
Nordic Soc Pediat Hematology Oncol, Sclsg, Zachariadis V, Gauffin F, Kuchinskaya E, Heyman M, et al
LEUKEMIA 2011;25(4):622-8

Birt-Hogg-Dube 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 Jd, Yang Xmj, et al
BMC MEDICAL GENOMICS 2010;:59-

Clinical Presentation of Griscelli Syndrome Type 2 and Spectrum of RAB27A Mutations
Meeths M, Bryceson Yt, Rudd E, Zheng Cy, Wood Sm, Ramme K, et al
PEDIATRIC BLOOD & CANCER 2010;54(4):563-72

First Report on Metastasizing Small Bowel Carcinoids in First-Degree Relatives in Three Generations
Jarhult J, Landerholm K, Falkmer S, Nordenskjold M, Sundler F, Wierup N
NEUROENDOCRINOLOGY 2010;91(4):318-23

[Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis]
Anderlid Bm, Blennow E, Giacobini M, Nordgren A, Wincent J, Schoumans J, et al
Lakartidningen 2010;107(17):1144-9

Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification
Bremer A, Giacobini M, Nordenskjold M, Brondum-nielsen K, Mansouri M, Dahl N, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2010;153B(1):280-5

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, et al
BLOOD 2010;116(15):2635-43

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 Xl, Yan J, Wang Yb, Zierath Jr, Nordenskjold M, Henter Ji, et al
MOLECULAR IMMUNOLOGY 2010;47(14):2388-96

An interstitial deletion of 7.1 Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
Bremer A, Schoumans J, Nordenskjold M, Anderlid Bm, Giacobini M
EUROPEAN JOURNAL OF MEDICAL GENETICS 2009;52(5):358-62

Birt-Hogg-Dube syndrome: diagnosis and management
European Bhd Consortium, Menko Fh, Van Steensel Mam, Giraud S, Friis-hansen L, Richard S, et al
LANCET ONCOLOGY 2009;10(12):1199-206

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, et al
PEDIATRIC BLOOD & CANCER 2009;53(6):1143-6

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, et al
BLOOD 2009;114(19):4117-27

Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy
Lunden L, Boxhammer S, Carlsson G, Ellstrom Kg, Nordenskjold M, Lagerstedt-robinson K, et al
BRITISH JOURNAL OF HAEMATOLOGY 2009;147(4):587-90

FREQUENCY AND SPECTRUM OF RAB27A GENE MUTATIONS IN PATIENTS WITH HEMOPHAGOCYTIC SYNDROMES
Meeths M, Bryceson Y, Rudd E, Ramme K, Zheng Cy, Beutel K, et al
PEDIATRIC BLOOD & CANCER 2009;53(4):686-687

Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome (vol 106, pg 468, 2008)
Chan Cb, Abe M, Hashimoto N, Hao Ch, Williams Ir, Liu X, et al
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 2009;106(14):6023-6023

Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity
Wang Xl, Ottosson A, Ji Cy, Feng Xl, Nordenskjold M, Henter Ji, et al
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL 2009;94(4):470-8

Screening for Genomic Imbalances in Autism Spectrum Disorders (ASDs) using Array-based Comparative Genomic Hybridization (array-CGH)
Bremer A, Anderlid B, Nordenskjold M, Giacobini M, Schoumans J
CHROMOSOME RESEARCH 2009;:91-91

Survivin expression in the bone marrow of patients with severe congenital neutropenia
Carlsson G, Boxhammer S, Garwicz D, Henter Ji, Palmblad J, Nordenskjold M, et al
LEUKEMIA 2009;23(3):622-5

SYNTAXIN-11 ACTS AS A NEGATIVE REGULATOR OF MACROPHAGE-MEDIATED PHAGOCYTOSIS
Zhang St, Ma Dx, Wang Xl, Celkan T, Nordenskjold M, Henter Ji, et al
PEDIATRIC BLOOD & CANCER 2009;53(4):686-686

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, et al
JOURNAL OF INTERNAL MEDICINE 2008;264(4):388-400

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
Horne A, Ramme Kg, Rudd E, Zheng Cy, Wali Y, Al-lamki Z, et al
BRITISH JOURNAL OF HAEMATOLOGY 2008;143(1):75-83

Global Expression Profiling in Atopic Eczema Reveals Reciprocal Expression of Inflammatory and Lipid Genes
Saaf Am, Tengvall-linder M, Chang Hy, Adler As, Wahlgren Cf, Scheynius A, et al
PLOS ONE 2008;3(12):e4017-

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 KBAC-clone-based array
De Stahl Td, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, et al
HUMAN MUTATION 2008;29(3):398-408

Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis
Ma Dx, Rudd E, Edner J, Gavhed S, Ramme Kg, Fadeel B, et al
PEDIATRIC BLOOD & CANCER 2008;50(5):1067-9

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, et al
JOURNAL OF MEDICAL GENETICS 2008;45(3):134-41

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, et al
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 2007;353(3):571-5

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
Zhou Xl, Giacobini M, Anderlid Bm, Anckarsater H, Omrani D, Gillberg C, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2007;144B(3):351-4

Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice
Kouznetsova A, Lister L, Nordenskjold M, Herbert M, Hoog C
NATURE GENETICS 2007;39(8):966-8

Characterization of genotype-phenotype correlations in hemophagocytic lymphohistiocytosis
Horne A, Rudd E, Ericson Kg, Zheng Cy, Wali Y, Al-lamki Z, et al
PEDIATRIC BLOOD & CANCER 2007;48(7):750-751

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, Nordenskjold M
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2007;92(9):3389-95

Defective cytotoxic lymphocyte degranulation in syntaxin-11-deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
Bryceson Yt, Rudd E, Zheng Cy, Edner J, Ma D, Wood Sm, et al
BLOOD 2007;110(6):1906-15

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
Gustavsson P, Schoumans J, Staaf J, Borg A, Nordenskjold M, Anneren G
EUROPEAN JOURNAL OF MEDICAL GENETICS 2007;50(3):237-41

Hidden unbalanced chromosomal abnormalities revealed by tiling array-CGH in children with acute lymphoblastic leukemia with normal G-banding karyotype
Kuchinskaya E, Nordgren A, Heyman M, Schoumans J, Corcoran M, Staaf J, et al
CELLULAR ONCOLOGY 2007;29(2):118-119

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, Nordenskjold M, Palmblad J, et al
ACTA PAEDIATRICA 2007;96(6):813-9

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, Hagglund H, Nordenskjold M, Henter Ji, et al
BRITISH JOURNAL OF HAEMATOLOGY 2007;137(2):166-9

Nucleotide changes in the syntaxin 11 gene in patients with familial hemophagocytic lymphohistiocytosis (FHL) originating from three countries in two continents
Zheng Cy, Rudd E, Edner J, Farah Ra, Celkan T, Hellebostad M, et al
PEDIATRIC BLOOD & CANCER 2007;48(7):752-752

Phosphoinositide 3-kinase regulates a subset of interferon-alpha-stimulated genes
Hjortsberg L, Lindvall C, Corcoran M, Arulampalam V, Chan D, Thyrell L, et al
EXPERIMENTAL CELL RESEARCH 2007;313(2):404-14

[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
Lakartidningen 2007;104(36):2507-8

Screening for gene dose imbalances of autism candidate genes in patients with autism spectrum disorders (ASD) using two-color MLPA
Bremer A, Anderlid Bm, Brondum-nielsen K, Dahl N, Barbaro M, Mansouri M, et al
CELLULAR ONCOLOGY 2007;29(2):135-135

Spectrum of MUNC 13-4 gene mutations in familial hemophagocytic lymphohistiocytosis
Rudd E, Zheng Cy, Edner J, Gurgey A, Wali Y, Hellebostad M, et al
PEDIATRIC BLOOD & CANCER 2007;48(7):752-752

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, et al
LEUKEMIA 2007;21(6):1327-30

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 Ji, Smirnov Af, et al
INTERNATIONAL JOURNAL OF ONCOLOGY 2006;28(3):605-17

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, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2006;78(6):1060-5

Genome-wide linkage analysis of allergic rhinoconjunctivitis in a Swedish population
Bu Lm, Bradley M, Soderhall C, Wahlgren Cf, Kockum I, Nordenskjold M
CLINICAL AND EXPERIMENTAL ALLERGY 2006;36(2):204-10

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, Jonsson G, Carlsson F, Kristoffersson U, et al
CLINICAL GENETICS 2006;69(5):441-3

[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 Ji
Lakartidningen 2006;103(50-52):4022-7

Kostmann syndrome or infantile genetic agranulocytosis, part one: Celebrating 50 years of clinical and basic research on severe congenital neutropenia
Carlsson G, Andersson M, Putsep K, Garwicz D, Nordenskjold M, Henter Ji, et al
ACTA PAEDIATRICA 2006;95(12):1526-32

Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4-1BB-L implicated in cell survival
Ek S, Bjorck E, Hogerkorp Cm, Nordenskjold M, Porwit-macdonald A, Borrebaeck Cak
INTERNATIONAL JOURNAL OF CANCER 2006;118(8):2092-7

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, et al
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL 2006;91(5):589-95

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies
Rudd E, Ericson Kg, Zheng C, Uysal Z, Ozkan A, Gurgey A, et al
JOURNAL OF MEDICAL GENETICS 2006;43(4):e14-

Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population
Bu Lm, Bradley M, Soderhall C, Wahlgren Cf, Kockum I, Nordenskjold M
ALLERGY 2006;61(5):617-21

Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles
Kuchinskaya E, Heyman M, Grander D, Linderholm M, Soderhall S, Zaritskey A, et al
EUROPEAN JOURNAL OF HAEMATOLOGY 2005;74(6):466-80

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, Nordenskjold M, Anderlid Bm
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2005;134A(3):254-8

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to similar to 650 kb
Schoumans J, Staaf J, Jonsson G, Rantala J, Zimmer Ks, Borg A, et al
EUROPEAN JOURNAL OF MEDICAL GENETICS 2005;48(3):290-300

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 Bm, Nordenskjold M
JOURNAL OF MEDICAL GENETICS 2005;42(9):699-705

Gene-expression profiling of lesional and atopy patched tested skin in patients with atopic dermatitis using cDNA microarrays
Saaf A, Bradley M, Tengvall-linder M, Chang Hy, Wahlgren Cf, Scheynius A, et al
JOURNAL OF INVESTIGATIVE DERMATOLOGY 2005;125(3):594-594

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
Schoumans J, Nordgren A, Ruivenkamp C, Brondum-nielsen K, Teh Bt, Anneren G, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2005;13(2):260-3

High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma
Bjorck E, Ek S, Landgren O, Jerkeman M, Ehinger M, Bjorkholm M, et al
BLOOD 2005;105(7):2908-15

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2
Buckley Pg, Mantripragada Kk, De Stahl Td, Piotrowski A, Hansson Cm, Kiss H, et al
HUMAN MUTATION 2005;26(6):540-9

Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line
Karpova Mb, Schoumans J, Ernberg I, Henter Ji, Nordenskjold M, Fadeel B
LEUKEMIA 2005;19(1):159-61

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size
Schoumans J, Nielsen K, Jeppesen I, Anderlid Bm, Blennow E, Brondum-nielsen K, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2004;12(6):447-54

Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes
Lindvall C, Furge K, Bjorkholm M, Guo X, Haab B, Blennow E, et al
HAEMATOLOGICA 2004;89(9):1072-81

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, Bjorck E, Porwit-macdonald A, Nordenskjold M, Borrebaeck Cak
HAEMATOLOGICA 2004;89(6):686-95

Inherited recurrent corneal erosions - a large family with an autosomal dominant inherited disorder
Fagerholm P, Hammar B, Bjorck E, Dellby A, Lagerstedt K, Nordenskjold M
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 2004;:U571-U571

Recurrent corneal erosions - studies of an autosomal dominant inherited corneal dystrophy
Hammar B, Lind H, Bjorck E, Lagerstedt K, Dellby A, Nordenskjold M, et al
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 2004;:U571-U571

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome
Stewart Dr, Huang A, Faravelli F, Anderlid Bm, Medne L, Ciprero K, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2004;128A(4):340-51

The performance of CGH array for the detection of cryptic constitutional chromosome imbalances
Schoumans J, Anderlid Bm, Blennow E, Teh Bt, Nordenskjold M
JOURNAL OF MEDICAL GENETICS 2004;41(3):198-202

Cleft palate, polydactyly and mild mental retardation in a girl with a balanced chromosome 7;9 translocation.
Gustavsson P, Gourgouvelis E, Blennow E, Ilicki A, Nordenskjold M
AMERICAN JOURNAL OF HUMAN GENETICS 2003;73(5):315-315

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
Anderlid Bm, Schoumans J, Hallqvist A, Stahl Y, Wallin A, Blennow E, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2003;11(1):89-92

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 Cd, Gronberg H, Matsuyama H, Weber G, Nordenskjold M, Naito K, et al
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE 2003;11(4):529-33

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, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2003;73(1):198-204

Gene expression analysis in patients with acute lymphoblastic leukemia, children and adults
Kuchinskaya E, Soderhall S, Heyman M, Grander D, Linderholm M, Zaritskey A, et al
EXPERIMENTAL HEMATOLOGY 2003;31(7):144-144

Inactivation of BHD in sporadic renal tumors
Khoo Sk, Kahnoski K, Sugimura J, Petillo D, Chen Jd, Shockley K, et al
CANCER RESEARCH 2003;63(15):4583-7

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 Cy, Henriksson M, Sedivy Jm, et al
CANCER RESEARCH 2003;63(8):1743-7

Molecular cytogenetic approach to the diagnosis of splenic lymphoma: A case report of blastoid mantle cell lymphoma
Bjorck E, Landgren O, Schoumans J, Christensson B, Bjorkholm M, Macdonald Ap, et al
LEUKEMIA & LYMPHOMA 2003;44(7):1229-34

Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis
Ericson Kg, Fadeel B, Andersson M, Gudmundsson Gh, Gurgey A, Yalman N, et al
HUMAN GENETICS 2003;112(1):98-9

The 9q subtelomeric microdeletion syndrome: Evidence for genomic susceptibility
Huang A, Stewart Dr, Faravelli F, Anderlid Bm, Kaur M, Rossi E, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2003;73(5):426-426

Analysis of association and linkage for the interleukin-4 and interleukin-4 receptor alpha; regions in Swedish atopic dermatitis families
Soderhall C, Bradley M, Kockum I, Luthman H, Wahlgren Cf, Nordenskjold M
CLINICAL AND EXPERIMENTAL ALLERGY 2002;32(8):1199-202

Clinical and genetic studies of Birt-Hogg-Dube syndrome
Khoo Sk, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, et al
JOURNAL OF MEDICAL GENETICS 2002;39(12):906-12

FISH-mapping of a 100-kb terminal 22q13 deletion
Anderlid Bm, Schoumans J, Anneren G, Tapia-paez I, Dumanski J, Blennow E, et al
HUMAN GENETICS 2002;110(5):439-43

Prenatal diagnosis: molecular genetics and cytogenetics
Bui Th, Blennow E, Nordenskjold M
BEST PRACTICE & RESEARCH IN CLINICAL OBSTETRICS & GYNAECOLOGY 2002;16(5):629-43

Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations
Castanos-velez E, Heiden T, Lindvall C, Capello D, Sandlund A, Imreh S, et al
AIDS RESEARCH AND HUMAN RETROVIRUSES 2002;18(5):383-90

Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations
Malmgren H, Sahlen S, Inzunza J, Aho M, Rosenlund B, Fridstrom M, et al
MOLECULAR HUMAN REPRODUCTION 2002;8(5):502-10

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, Sahlen S, Schoumans J, Soderhall S, Nordenskjold M, et al
EUROPEAN JOURNAL OF HAEMATOLOGY 2002;68(1):31-41

Submicroscopic telomere deletions of chromosome 9q
Stewart D, Zackai E, Huang A, Medne L, Russell K, Rossi E, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2002;71(4):299-299

Subtelomeric rearrangements detected in patients with idiopathic mental retardation
Anderlid Bm, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, et al
AMERICAN JOURNAL OF MEDICAL GENETICS 2002;107(4):275-84

Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population
Bradley M, Soderhall C, Luthman H, Wahlgren Cf, Kockum I, Nordenskjold M
HUMAN MOLECULAR GENETICS 2002;11(13):1539-48

Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17, and 18 in a Swedish population.
Bradley M, Soderhall C, Luhtman H, Wahlgren Cf, Kockum I, Nordenskjold M
AMERICAN JOURNAL OF HUMAN GENETICS 2002;71(4):496-496

Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson Sa, Eklof O, Enkvist O, et al
HUMAN GENETICS 2001;109(5):551-8

Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2
Khoo Sk, Bradley M, Wong Fk, Hedblad Ma, Nordenskjold M, Teh Bt
ONCOGENE 2001;20(37):5239-42

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities
Fridstrom M, Ahrlund-richter L, Iwarsson E, Malmgren H, Inzunza J, Rosenlund B, et al
PRENATAL DIAGNOSIS 2001;21(9):781-7

[Hereditary thyroid cancer can be cured by prophylactic surgery]
Wallin G, Bondesson Ag, Farnebo Lo, Hallengren B, Hamberger B, Jansson S, et al
Lakartidningen 2001;98(25):3024-8

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, et al
EUROPEAN JOURNAL OF HAEMATOLOGY 2001;66(5):297-304

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, Soderhall S, Nordenskjold M, Blennow E
BRITISH JOURNAL OF HAEMATOLOGY 2001;114(4):786-93

Linkage and association to candidate regions in Swedish atopic dermatitis families
Soderhall C, Bradley M, Kockum I, Wahlgren Cf, Luthman H, Nordenskjold M
HUMAN GENETICS 2001;109(2):129-35

Linkage to the Wiskott-Aldrich syndrome gene in Swedish patients with atopic dermatitis
Bradley M, Soderhall C, Wahlgren Cf, Luthman H, Nordenskjold M, Kockum I
JOURNAL OF INVESTIGATIVE DERMATOLOGY 2001;117(3):798-798

Mapping of the Birt-Hogg-Dube syndrome gene to chromosome 17.
Khoo Sk, Bradley M, Wong Fk, Hedblad M, Nordenskjold M, Teh Bt
AMERICAN JOURNAL OF HUMAN GENETICS 2001;69(4):191-191

Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements
Lindvall C, Nordenskjold M, Porwit A, Bjorkholm M, Blennow E
HAEMATOLOGICA 2001;86(11):1158-64

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis
Ericson Kg, Fadeel B, Nilsson-ardnor S, Soderhall C, Samuelsson A, Janka G, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2001;68(3):590-7

The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis
Bradley M, Soderhall C, Wahlgren Cf, Luthman H, Nordenskjold M, Kockum I
ACTA DERMATO-VENEREOLOGICA 2001;81(5):340-2

Characterization by phenotype of families with atopic dermatitis
Bradley M, Kockum I, Soderhall C, Van Hage-hamsten M, Luthman H, Nordenskjold M, et al
ACTA DERMATO-VENEREOLOGICA 2000;80(2):106-10

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, et al
The hematology journal : the official journal of the European Haematology Association 2000;1(2):95-101

Early prenatal diagnosis of the ICF syndrome
Bjorck Ej, Bui Th, Wijmenga C, Grandell U, Nordenskjold M
PRENATAL DIAGNOSIS 2000;20(10):828-31

Frequent amplification of the Telomerase Reverse Transcriptase gene in human tumors
Zhang Aj, Zheng Cy, Lindvall C, Hou M, Ekedahl J, Lewensohn R, et al
CANCER RESEARCH 2000;60(22):6230-5

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers
Iwarsson E, Malmgren H, Inzunza J, Ahrlund-richter L, Sjoblom P, Rosenlund B, et al
PRENATAL DIAGNOSIS 2000;20(13):1038-47

Multiple endocrine neoplasia type 1
Wong Fk, Burgess J, Nordenskjold M, Larsson C, Teh Bt
SEMINARS IN CANCER BIOLOGY 2000;10(4):299-312

The biology of inherited cancer
Lindblom A, Nordenskjold M
SEMINARS IN CANCER BIOLOGY 2000;10(4):251-4

[The genome project in its final phase: It will soon be possible to explain many of the brain diseases]
Nordenskjöld M
Lakartidningen 2000;97(6):548-9

A high degree of aneuploidy in frozen-thawed human preimplantation embryos
Iwarsson E, Lundqvist M, Inzunza J, Ahrlund-richter L, Sjoblom P, Lundkvist O, et al
HUMAN GENETICS 1999;104(5):376-82

A high degree of mosaicism in preimplantation embryos from a carrier of a reciprocal translocation t(11;22)(q23;q11).
Iwarsson E, Malmgren H, Inzunza J, Ahrlund-richter L, Rosenlund B, Fridstrom M, et al
AMERICAN JOURNAL OF HUMAN GENETICS 1999;65(4):A165-A165

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
Vorechovsky I, Blennow E, Nordenskjold M, Webster Adb, Hammarstrom L
JOURNAL OF IMMUNOLOGY 1999;163(4):2236-42

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
PEDIATRIC RESEARCH 1999;45(4):144A-144A

Characterization of drug-resistant cell lines by comparative genomic hybridization
Carlson Km, Gruber A, Liliemark E, Larsson R, Nordenskjold M
CANCER GENETICS AND CYTOGENETICS 1999;111(1):32-6

Distinct deleted regions on chromosome segment 16q23-24 associated with metastases in prostate cancer
Li Cd, Berx G, Larsson C, Auer G, Aspenblad U, Pan Y, et al
GENES CHROMOSOMES & CANCER 1999;24(3):175-82

Hereditary cancer
Lindblom A, Nordenskjold M
ACTA ONCOLOGICA 1999;38(4):439-47

[Identification of cancer genes has made the testing of predisposition possible. Genetic counseling and mutation screening can result in new therapeutic methods]
Nordenskjöld M
Lakartidningen 1999;96(32-33):3392-6

Subtelomeric rearrangements detected by FISH in patients with idiopatic mental retardation.
Anderlid B, Anneren G, Blennow E, Nordenskjold M
AMERICAN JOURNAL OF HUMAN GENETICS 1999;65(4):A67-A67

Tumor suppressor genes (TSG)
Teh Bt, Larsson C, Nordenskjold M
ANTICANCER RESEARCH 1999;19(6A):4715-28

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, Nordenskjold M, et al
AMERICAN JOURNAL OF HUMAN GENETICS 1998;63(5):1544-9

Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis
Inzunza J, Iwarsson E, Fridstrom M, Rosenlund B, Sjoblom P, Hillensjo T, et al
PRENATAL DIAGNOSIS 1998;18(13):1381-8

Birth of healthy twins after preimplantation genetic diagnosis of a pericentric inversion of chromosome 5
Iwarsson E, Ahrlund-richter L, Inzunza J, Rosenlund B, Fridstrom M, Sjoblom P, et al
HUMAN REPRODUCTION 1998;:81-82

Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing
Li Cd, Weber G, Ekman P, Lagercrantz J, Norlen Bj, Akerstrom G, et al
HUMAN MUTATION 1998;:S31-3

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism
Teh Bt, Kytola S, Farnebo F, Bergman L, Wong Fk, Weber G, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 1998;83(8):2621-6

Numerical chromosomal abnormalities in tripronuclear preimplantation embryos fertilized in vitro
Iwarsson E, Lundquist M, Inzunza J, Ahrlund-richter L, Nordenskjold M, Sjoblom P, et al
HUMAN REPRODUCTION 1998;:330-331

Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5
Iwarsson E, Ahrlund-richter L, Inzunza J, Rosenlund B, Fridstrom M, Hillensjo T, et al
MOLECULAR HUMAN REPRODUCTION 1998;4(7):719-23

Preimplantation genetic diagnosis of DiGeorge syndrome
Iwarsson E, Ahrlund-richter L, Inzunza J, Fridstrom M, Rosenlund B, Hillensjo T, et al
MOLECULAR HUMAN REPRODUCTION 1998;4(9):871-5

1p and 3p deletions in meningiomas without detectable aberrations or chromosome 22 identified by comparative genomic hybridization
Carlson Km, Bruder C, Nordenskjold M, Dumanski Jp
GENES CHROMOSOMES & CANCER 1997;20(4):419-24

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, Nordenskjold M, Soderhall S, Porwitmacdonald A, Blennow E
CANCER GENETICS AND CYTOGENETICS 1997;99(2):93-6

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, et al
HUMAN GENETICS 1997;99(1):130-2

Expression of LAZ3/BCL6 in follicular center (FC) B cells of reactive lymph nodes and FC-derived non-Hodgkin lymphomas
Bajalicalagercrantz S, Piehl F, Lagercrantz J, Lindahl J, Weber G, Kerckeart Jp, et al
LEUKEMIA 1997;11(4):594-8

Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern
Enmark E, Pelto-huikko M, Grandien K, Lagercrantz S, Lagercrantz J, Fried G, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 1997;82(12):4258-65

[Preimplantation genetic diagnosis. An alternative to traditional prenatal diagnosis]
Iwarsson E, Blennow Es, Anvret M, Nordenskjöld M, Inzunza J, Ahrlund-richter L, et al
Lakartidningen 1997;94(35):2919-22

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer
Tannergard P, Liu T, Weger A, Nordenskjold M, Lindblom A
HUMAN GENETICS 1997;101(1):51-5

Characterization of the murine VEGF-related factor gene
Townson S, Lagercrantz J, Grimmond S, Silins G, Nordenskjold M, Weber G, et al
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 1996;220(3):922-8

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, et al
GENOME RESEARCH 1996;6(2):124-31

Duplication of 2q31-qter as a sole aberration in a case of non-Hodgkin's lymphoma
Bajalicalagercrantz S, Pedersen Nt, Sorensen Ag, Nordenskjold M
CANCER GENETICS AND CYTOGENETICS 1996;90(2):102-5

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, Nordenskjold M, Weber G
GENOMICS 1996;31(3):380-4

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, Bajalicalagercrantz S, Lindblom A, Lushnikova T, Kashuba Vi, Imreh S, et al
CHROMOSOME RESEARCH 1996;4(4):310-3

[Nobody will be punished for one's own hereditary disposition. Genetic information should be protected by law]
Lindblom A, Nordenskjöld M
Lakartidningen 1996;93(10):908-10

Sequence and expression of the mouse homologue to human phospholipase C beta 3 neighboring gene
Lagercrantz J, Kedra D, Carson E, Nordenskjold M, Dumanski Jp, Weber G, et al
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 1996;223(2):335-40

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, et al
HUMAN GENETICS 1996;98(2):185-8

Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) after treatment with cyclophosphamide, alpha-interferon and betamethasone in a patient with multiple myeloma
Bjorck E, Samuelsson J
EUROPEAN JOURNAL OF HAEMATOLOGY 1996;56(5):323-5

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, et al
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION 1996;276(19):1575-9

50 PROBANDS WITH EXTRA STRUCTURALLY ABNORMAL CHROMOSOMES CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Blennow E, Nielsen Kb, Telenius H, Carter Np, Kristoffersson U, Holmberg E, et al
AMERICAN JOURNAL OF MEDICAL GENETICS 1995;55(1):85-94

Analysis of microsatellite repeats in pediatric brain tumors
Amariglio N, Friedman E, Mor O, Stiebel H, Phelan C, Collins P, et al
CANCER GENETICS AND CYTOGENETICS 1995;84(1):56-9

CANDIDATE GENES FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
Lagercrantz J, Larsson C, Grimmond S, Skogseid B, Gobl A, Friedman E, et al
JOURNAL OF INTERNAL MEDICINE 1995;238(3):245-8

CHARACTERIZATION OF ADD(I)(P36) IN NON-HODGKIN LYMPHOMAS BY FLUORESCENCE IN-SITU HYBRIDIZATION
Bajalica S, Brondumnielsen K, Sorensen Ag, Pedersen Nt, Kristoffersson U, Akerman M, et al
GENES CHROMOSOMES & CANCER 1995;13(1):34-9

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, et al
HUMAN GENETICS 1995;95(4):455-8

Expression of the phosphoinositide-specific phospholipase C beta 3 gene in the rat
Lagercrantz J, Piehl F, Nordenskjold M, Larsson C, Weber G
NEUROREPORT 1995;6(18):2542-4

FINNISH MUTATIONS IN SWEDISH HNPCC FAMILIES
Tannergard P, Nordenskjold M, Lindblom A
NATURE MEDICINE 1995;1(11):1104-

FINNISH MUTATIONS IN SWEDISH HNPCC FAMILIES (VOL 1, PG 1104, 1995)
Tannergard P, Nordenskjold M, Lindblom A, Lystromlahti M, Delachapelle A, Peltomaki P
NATURE MEDICINE 1995;1(12):1319-1319

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, Rosen A, Dare E, et al
GENOMICS 1995;26(3):467-72

MOLECULAR CHARACTERIZATION OF DER(1)T(1-2)(P36-Q31) IN NON-HODGKIN LYMPHOMAS
Carlson K, Bajalica S, Nordenskjold M
AMERICAN JOURNAL OF HUMAN GENETICS 1995;57(4):322-322

MUTATION SCREENING IN THE HMLH1 GENE IN SWEDISH HEREDITARY NONPOLYPOSIS COLON-CANCER FAMILIES
Tannergard P, Lipford Jr, Kolodner R, Frodin Je, Nordenskjold M, Lindblom A
CANCER RESEARCH 1995;55(24):6092-6

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