Elisabeth Syk Lundberg

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Articles

Article: PLOS GENETICS. 2019;15(2):e1007858
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements
Eisfeldt J; Pettersson M; Vezzi F; Wincent J; Kaeller M; Gruselius J; Nilsson D; Lundberg ES; Carvalho CMB; Lindstrand A
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; Nordenskjoeld M; Nordgren A; Lundberg ES
Article: PLOS GENETICS. 2018;14(11):e1007780
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Article: MUTATION RESEARCH - FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4
Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis
Pettersson M; Eisfeldt J; Lundberg ES; Lundin J; Lindstrand A
Article: REPRODUCTIVE BIOMEDICINE ONLINE. 2017;34(6):645-652
Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome
Kouru KH; Malmgren H; White I; Sanchez AR; Lundberg ES
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; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: LEUKEMIA AND LYMPHOMA. 2016;57(9):2161-2170
Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia
Ofverholm II; Anh NT; Olsson L; Zachariadis V; Heyman M; Rudd E; Lundberg ES; Nordenskjold M; Johansson B; Nordgren A; Barbany G
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; Albage M; Nordenskjold M; Anderlid BM; Nordgren A; Lundberg ES
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; Paez IT; Klingberg T; Samuelsson L; Wirta V; Vezzi F; Kere J; Nordenskjold M; Lundberg ES; Lindstrand A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(12):3083-3087
Intragenic Duplication-A Novel Causative Mechanism for SATB2-Associated Syndrome
Lieden A; Kvarnung M; Nilssson D; Sahlin E; Lundberg ES
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; Nordenskjold M; Grinnemo K-H; Kere J; Betsholtz C; Hovatta O; Tryggvason K
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; Stodberg T; Makitie O; Anderlid B-M; Bryceson YT; Nordenskjold M; Nordgren A
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
Kouru KH; Malmgren H; Nordenskjold M; Fridstrom M; Csemiczky G; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2012;158A(5):1111-1117
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype
Kvarnung M; Lindstrand A; Malmgren H; Thastrom A; Jacobson L; Dahl N; Lundin J; Blennow E
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; Lonnerholm G; Nordenskjold M; Johansson B; Forestier E; Nordgren A
Article: SEMINARS IN FETAL AND NEONATAL MEDICINE. 2011;16(2):74-80
Preimplantation genetic diagnosis: twenty years of practice
Iwarsson E; Malmgren H; Blennow E
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; Soderhall S; Forestier E; Wehner P; Vettenranta K; Jonsson O; Wesenberg F; Sahlen S; Nordenskjold M; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(9):2277-2286
Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J; Gustavsson P; Lagerstedt-Robinson K; Blennow E; Lundin J; Iwarsson E; Nordenstrom A; Anderlid B-M; Bondeson M-L; Nordenskjold A; Nordgren A
Article: CLINICAL GENETICS. 2010;77(6):552-562
Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH
Lindstrand A; Schoumans J; Gustavsson P; Hanemaaijer N; Malmgren H; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(5):1233-1243
Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions
Lindstrand A; Malmgren H; Verri A; Benetti E; Eriksson M; Nordgren A; Anderlid B-M; Golovleva I; Schoumans J; Blennow E
Article: CLINICAL GENETICS. 2010;77(2):145-154
Detailed molecular and clinical characterization of three patients with 21q deletions
Lindstrand A; Malmgren H; Sahlen S; Schoumans J; Nordgren A; Ergander U; Holm E; Anderlid BM; Blennow E
Article: GENES CHROMOSOMES AND CANCER. 2009;48(9):795-805
Clinical and Cytogenetic Features of a Population-Based Consecutive Series of 285 Pediatric T-Cell Acute Lymphoblastic Leukemias: Rare T-cell Receptor Gene Rearrangements Are Associated with Poor Outcome
Karrman K; Forestier E; Heyman M; Andersen MK; Autio K; Blennow E; Borgstrom G; Ehrencrona H; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Palmqvist L; Johansson B
Article: HAEMATOLOGICA. 2009;94(7):1016-1019
Overexpression of CD123 correlates with the hyperdiploid genotype in acute lymphoblastic leukemia
Djokic M; Bjorklund E; Blennow E; Mazur J; Soderhall S; Porwit A
Article: CLINICAL GENETICS. 2008;74(1):61-67
Concurrent microdeletion and duplication of 22q11.2
Blennow E; Lagerstedt K; Malmgren H; Sahlen S; Schoumans J; Anderlid BM
Article: LAKARTIDNINGEN. 2008;105(14):1008-1010
[More than 10 years with preimplantation genetic diagnosis in Sweden. An alternative when there is great risk of congenital diseases].
Blennow E; Hanson C; Fridström M
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(5):572-577
Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding
Kuchinskaya E; Heyman M; Nordgren A; Schoumans J; Staaf J; Borg A; Soderhall S; Grander D; Nordenskjold M; Blennow E
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(6):665-672
Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol:: frequent late relapses but good overall survival
Forestier E; Heyman M; Andersen MK; Autio K; Blennow E; Borgstrom G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B
Article: HUMAN REPRODUCTION. 2007;22(12):3051-3058
Mechanical isolation of the inner cell mass is effective in derivation of new human embryonic stem cell lines
Strom S; Inzunza J; Grinnemo K-H; Hohmnberg K; Matilainen E; Stromberg A-M; Blennow E; Hovatta O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2007;143A(18):2143-2149
Distal 3p deletion syndrome:: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review
Malmgren H; Sahlen S; Wide K; Lundvall M; Blennow E
Article: JOURNAL OF CELLULAR BIOCHEMISTRY. 2007;100(6):1518-1525
Trisomy 12 in HESC leads to no selective in vivo growth advantage in teratomas, but induces an increased abundance of renal development
Gertow K; Cedervall J; Unger C; Szoke K; Blennow E; Imreh MP; Ahrlund-Richter L
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2006;135(4):492-499
Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2
Schoumans J; Johansson B; Corcoran M; Kuchinskaya E; Golovleva I; Grander D; Forestier E; Staaf J; Borg A; Gustafsson B; Blennow E; Nordgren A
Article: JOURNAL OF CELLULAR BIOCHEMISTRY. 2006;99(2):508-516
In vitro culture conditions favoring selection of chromosomal abnormalities in human ES cells
Imreh MP; Gertow K; Cedervall J; Unger C; Holmberg K; Szoke K; Cosregh L; Fried G; Dilber S; Blennow E; Ahrlund-Richter L
Article: MOLECULAR HUMAN REPRODUCTION. 2006;12(5):353-356
PGD for dystrophin gene deletions using fluorescence in situ hybridization
Malmgren H; White I; Johansson S; Levkov L; Iwarsson E; Fridstrom M; Blennow E
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 JI; Smirnov AF; Nordenskjöld M; Fadeel B
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2005;139A(1):25-31
Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34):: Deletion/duplication of 7q33-34 and clinical correlations
Malmgren H; Malm G; Sahlén S; Karlsson M; Blennow E
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: STEM CELLS. 2005;23(4):544-549
Derivation of human embryonic stem cell lines in serum replacement medium using postnatal human fibroblasts as feeder cells
Inzunza J; Gertow K; Strömberg MA; Matilainen E; Blennow E; Skottman H; Wolbank S; Ährlund-Richter L; Hovatta O
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2004;12(12):993-1000
An excess of chromosome 1 breakpoints in male infertility.
Bache I; Assche EV; Cingoz S; Bugge M; Tümer Z; Hjorth M; Lundsteen C; Lespinasse J; Winther K; Niebuhr A; Kalscheuer V; Liebaers I; Bonduelle M; Tournaye H; Ayuso C; Barbi G; Blennow E; Bourrouillou G; Brondum-Nielsen K; Bruun-Petersen G; Croquette M-F; Dahoun S; Dallapiccola B; Davison V; Delobel B; Duba H-C; Duprez L; Ferguson-Smith M; Fitzpatrick DR; Grace E; Hansmann I; Hultén M; Jensen PK; Jonveaux P; Kristoffersson U; Lopez-Pajares I; McGowan-Jordan J; Murken J; Orera M; Parkin T; Passarge E; Ramos C; Rasmussen K; Schempp W; Schubert R; Schwinger E; Shabtai F; Smith K; Stallings R; Stefanova M; Tranebjerg L; Turleau C; van der Hagen CB; Vekemans M; Vokac NK; Wagner K; Wahlstroem J; Zelante L; Tommerup N
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2004;130A(4):340-344
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.
Tümer Z; Harboe TL; Blennow E; Kalscheuer VM; Tommerup N; Brøndum-Nielsen K
Article: GENES CHROMOSOMES AND CANCER. 2004;41(2):133-144
Spontaneously immortalized human T lymphocytes develop gain of chromosomal region 2p13-24 as an early and common genetic event
Siwicki JK; Berglund M; Rygier J; Pienkowska-Grela B; Grygalewicz B; Degerman S; Golovleva I; Chrzanowska KH; Lagercrantz S; Blennow E; Roos G; Larsson C
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: MOLECULAR HUMAN REPRODUCTION. 2004;10(6):461-466
Comparative genomic hybridization and karyotyping of human embryonic stem cells reveals the occurrence of an isodicentric X chromosome after long-term cultivation
Inzunza J; Sahlén S; Holmberg K; Strömberg AM; Teerijoki H; Blennow E; Hovatta O; Malmgren H
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 BM; Blennow E; Brondum-Nielsen K; Nordenskjöld M
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 BM; Blennow E; Teh BT; Nordenskjöld M
Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2004;13(2):273-279
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets
Mantripragada KK; Tapia-Páez I; Blennow E; Nilsson P; Wedell A; Dumanski JP
Article: CHROMOSOME RESEARCH. 2004;12(1):25-33
Reverse painting highlights the origin of chromosome aberrations.
Blennow E
Article: GENOME RESEARCH. 2003;13(9):2059-2068
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.
Ventura M; Mudge JM; Palumbo V; Burn S; Blennow E; Pierluigi M; Giorda R; Zuffardi O; Archidiacono N; Jackson MS; Rocchi M
Article: HUMAN REPRODUCTION. 2003;18(7):1404-1409
A culture system using human foreskin fibroblasts as feeder cells allows production of human embryonic stem cells
Hovatta O; Mikkola M; Gertow K; Strömberg AM; Inzunza J; Hreinsson J; Rozell B; Blennow E; Andäng M; Ahrlund-Richter L
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2003;121(4):566-577
Cytogenetic abnormalities in childhood acute myeloid leukaemia:: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001
Forestier E; Heim S; Blennow E; Borgström G; Holmgren G; Heinonen K; Johannsson J; Kerndrup G; Andersen MK; Lundin C; Nordgren A; Rosenquist R; Swolin B; Johansson B
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2003;72(4):940-948
Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome
Zhang AJ; Zheng CY; Hou M; Lindvall C; Li KJ; Erlandsson F; Björkholm M; Gruber A; Blennow E; Xu DW
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 BM; Schoumans J; Hallqvist Å; Ståhl Y; Wallin A; Blennow E; Nordenskjöld M
Article: HUMAN MOLECULAR GENETICS. 2002;11(25):3221-3229
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
Buckley PG; Mantripragada KK; Benetkiewicz M; Tapia-Páez I; de Ståhl TD; Rosenquist M; Ali H; Jarbo C; de Bustos C; Hirvelä C; Wilén BS; Fransson I; Thyr C; Johnsson BI; Bruder CEG; Menzel U; Hergersberg M; Mandahl N; Blennow E; Wedell A; Beare DM; Collins JE; Dunham I; Albertson D; Pinkel D; Bastian BC; Faruqi AF; Lasken RS; Ichimura K; Collins VP; Dumanski JP
Article: BEST PRACTICE AND RESEARCH: CLINICAL OBSTETRICS AND GYNAECOLOGY. 2002;16(5):629-643
Prenatal diagnosis:: molecular genetics and cytogenetics
Bui TH; Blennow E; Nordenskjöld M
Article: ONCOGENE. 2002;21(30):4646-4662
Novel colon cancer cell lines leading to better understanding of the diversity of respective primary cancers.
Vécsey-Semjén B; Becker K-F; Sinski A; Blennow E; Vietor I; Zatloukal K; Beug H; Wagner E; Huber LA
Article: GENES CHROMOSOMES AND CANCER. 2002;34(3):269-275
Amplification of the telomerase reverse transcriptase (hTERT) gene in cervical carcinomas
Zhang AJ; Zheng CY; Hou M; Lindvall C; Wallin KL; Ångström T; Yang XY; Hellström AC; Blennow E; Björkholm M; Zetterberg A; Gruber A; Xu DW
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; Ährlund-Richter L; Nordenskjöld M; Blennow E
Article: HUMAN GENETICS. 2002;110(5):439-443
FISH-mapping of a 100-kb terminal 22q13 deletion
Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2002;9(4):405-409
A region close to Tp53 shows LOH in familial breast cancer
Luo LP; Chen JD; Du Q; Dumanski J; Blennow E; Kockum I; Luthman H; Lindblom A
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 BM; 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: 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; Ährlund-Richter L; Iwarsson E; Malmgren H; Inzunza J; Rosenlund B; Sjöblom P; Nordenskjöld M; Blennow E; Hovatta O
Article: HUMAN GENETICS. 2001;109(2):167-177
The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers
Tapia-Páez I; Kost-Alimova M; Hu P; Roe BA; Blennow E; Fedorova L; Imreh S; Dumanski JP
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(4):1043-1047
Limitations of chromosome classification by multicolor karyotyping
Lee C; Gisselsson D; Jin C; Nordgren A; Ferguson DO; Blennow E; Fletcher JA; Morton CC
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2001;99(3):223-233
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
Anderlid BM; Sahlén S; Schoumans J; Holmberg E; Åhsgren I; Mortier G; Speleman F; Blennow E
Article: DIAGNOSTIC MOLECULAR PATHOLOGY. 2001;10(1):46-54
Physical state of HPV16 and chromosomal mapping of the integrated form in cervical carcinomas
Kalantari M; Blennow E; Hagmar B; Johansson B
Article: HUMAN MOLECULAR GENETICS. 2001;10(3):271-282
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Bruder CEG; Hirvelä C; Tapia-Paez I; Fransson I; Segraves R; Hamilton G; Zhang XX; Evans DG; Wallace AJ; Baser ME; Zucman-Rossi J; Hergersberg M; Boltshauser E; Papi L; Rouleau GA; Poptodorov G; Jordanova A; Rask-Andersen H; Kluwe L; Mautner V; Sainio M; Hung G; Mathiesen T; Möller C; Pulst SM; Harder H; Heiberg A; Honda M; Miimura M; Sahlén S; Blennow E; Albertson DG; Pinkel D; Dumanski JP
Article: HUMAN REPRODUCTION. 2000;15(12):2673-2683
ESHRE preimplantation genetic diagnosis (PGD) consortium: data collection II (May 2000).
Geraedts J; Handyside A; Harper J; Liebaers I; Sermon K; Staessen C; Thornhill A; Viville S; Wilton L; European Society of Human Reproduction and Embryol
Article: PRENATAL DIAGNOSIS. 2000;20(13):1038-1047
Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers
Iwarsson E; Malmgren H; Inzunza J; Ährlund-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 AJ; Zheng CY; Lindvall C; Hou M; Ekedahl J; Lewensohn R; Yan ZQ; Yang XY; Henriksson M; Blennow E; Nordenskjöld M; Zetterberg A; Björkholm M; Gruber A; Xu DW
Article: MEDICAL ONCOLOGY. 2000;17(4):270-278
Generation of dendritic cells from peripheral blood of patients at different stages of chronic myeloid leukemia
Zheng C; Pisa P; Stromberg O; Blennow E; Hansson M
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2000;8(10):801-804
Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome.
Bergman A; Blennow E
Article: HUMAN GENETICS. 2000;106(5):506-516
Fine mapping of the constitutional translocation t(11;22)(q23;q11)
Tapia-Páez I; O'Brien KP; Kost-Alimova M; Sahlén S; Kedra D; Bruder CEG; Andersson B; Roe BA; Hu P; Imreh S; Blennow E; Dumanski JP
Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2000;5(5):485-492
New chromosomal breakpoints in non-Hodgkin's lymphomas revealed by spectral karyotyping and G-banding
Nordgren A; Sorensen AG; Tinggaard-Pedersen N; Blennow E; Larsson C; Lagercrantz S
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2000;91(2):102-106
Molecular cytogenetic characterization and origin of two de novo duplication 9p cases.
Tsezou A; Kitsiou S; Galla A; Petersen MB; Karadima G; Syrrou M; Sahlèn S; Blennow E
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: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1999;87(1):49-52
Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes:: i(9p) and i(9q)
Björck EJ; Anderlid BM; 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
Vorechovsky I; Blennow E; Nordenskjöld M; Webster ADB; Hammarström L
Article: GENES CHROMOSOMES AND CANCER. 1999;25(2):184-190
Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?
Bruder CE; Ichimura K; Blennow E; Ikeuchi T; Yamaguchi T; Yuasa Y; Collins VP; Dumanski JP
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; Ährlund-Richter L; Sjöblom P; Lundkvist Ö; Simberg N; Nordenskjöld M; Blennow E
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; Ährlund-Richter L
Article: HUMAN GENETICS. 1998;103(2):131-141
Characterization of the human synaptogyrin gene family
Kedra D; Pan HQ; Seroussi E; Fransson I; Guilbaud C; Collins JE; Dunham I; Blennow E; Roe BA; Piehl F; Dumanski JP
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1998;6(5):432-438
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
Karadima G; Bugge M; Nicolaidis P; Vassilopoulos D; Avramopoulos D; Grigoriadou M; Albrecht B; Passarge E; Annerén G; Blennow E; Clausen N; Galla-Voumvouraki A; Tsezou A; Kitsiou-Tzeli S; Hahnemann JM; Hertz JM; Houge G; Kuklík M; Macek M; Lacombe D; Miller K; Moncla A; López Pajares I; Patsalis PC; Petersen MB
Article: MOLECULAR HUMAN REPRODUCTION. 1998;4(9):871-875
Preimplantation genetic diagnosis of DiGeorge syndrome
Iwarsson E; Ahrlund-Richter L; Inzunza J; Fridstrom M; Rosenlund B; Hillensjo T; Sjoblom P; Nordenskjold M; Blennow E
Article: GENES CHROMOSOMES AND CANCER. 1998;23(1):67-71
Molecular analysis of 1p36 breakpoints in two Merkel cell carcinomas.
Van Gele M; Van Roy N; Ronan SG; Messiaen L; Vandesompele J; Geerts ML; Naeyaert JM; Blennow E; Bar-Am I; Das Gupta TK; van der Drift P; Versteeg R; Leonard JH; Speleman F
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; Fridstrom M; Hillensjo T; Sjoblom P; Nordenskjold M; Blennow E
Article: GENES CHROMOSOMES AND CANCER. 1998;21(3):260-264
Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution
Teh BT; Blennow E; Giraud S; Sahlen S; Hii SI; Brookwell R; Nordenskjold HM; Larsson C; Nicol D
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1997;73(3):351-355
Trisomy 5q12->q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting
Nordgren A; Arver S; Kvist U; Carter N; Blennow E
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; Nordenskjold M; Soderhall S; PorwitMacDonald A; Blennow E
Article: HUMAN GENETICS. 1997;100(5-6):611-619
The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13.
Kedra D; Seroussi E; Fransson I; Trifunovic J; Clark M; Lagercrantz J; Blennow E; Mehlin H; Dumanski J
Article: EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE. 1997;247(5):239-247
Further studies on a male monozygotic triplet with schizophrenia: cytogenetical and neurobiological assessments in the patients and their parents
Jonsson EG; Harnryd C; Johannesson T; Wahlstrom J; Bergenius J; Bergstedt H; Greitz D; Nyman H; Bjorck E; Blennow E; Sedvall GC
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1996;65(1):60-67
Monosomy 1p36.31-33->pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis
Blennow E; Bui TH; Wallin A; Kogner P
Article: JOURNAL OF MEDICAL GENETICS. 1996;33(5):399-402
Small extra ring chromosome derived from chromosome 10p: Clinical report and characterisation by FISH
Blennow E; Tillberg E
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1996;4(3):160-167
Tetrasomy 18p de novo: parental origin and different mechanisms of formation.
Bugge M; Blennow E; Friedrich U; Petersen MB; Pedeutour F; Tsezou A; Orum A; Hermann S; Lyngbye T; Sarri C; Avramopoulos D; Kitsiou S; Lambert JC; Guzda M; Tommerup N; Brøndum-Nielsen K
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1995;55(1):85-94
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; GILLBERG C; NORDENSKJOLD M
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Editorial comment: FERTILITY AND STERILITY. 2011;95(2):806-808
Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring?
Kouru KH; Malmgren H; White I; Blennow E
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
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2008;146A(24):3217-3222
Molecular Cytogenetic Characterization of a Constitutional, Highly Complex Intrachromosomal Rearrangement of Chromosome 1, With 14 Breakpoints and a 0.5 Mb Submicroscopic Deletion
Lindstrand A; Malmgren H; Sahlen S; Xin H; Schoumans J; Blennow E
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; Soderhall S; Grander D; Nordenskjold M; Blennow E
Review: GENES CHROMOSOMES AND CANCER. 2007;46(5):440-450
Cytogenetic patterns in ETV6/RUNXI-positive pediatric B-cell precursor acute lymphoblastic leukemia:: A Nordic series of 245 cases and review of the literature
Forestier E; Andersen MK; Autio K; Blennow E; Borgstrom G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B
Letter: JOURNAL OF MEDICAL GENETICS. 1999;36(9):718-719
Rescue from the effects of trisomy 13q32-->qter owing to skewed X inactivation in a der(X)t(X;13)(p21;q32) carrier.
Blennow E; Sahlén S
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
Addendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 1996;4(5):291
Tetrasomy 18p de novo: Parental origin and different mechanisms of formation (vol 4, pg 160, 1996)
Bugge M; Blennow E; Friedrich U; Petersen MB; Pedeutour F; Tsezou A; Orum A; Hermann S; Lyngbye T; Sarri C; Avramopoulos D; Kitsiou S; Lambert JC; Guzda M; Tommerup N; BrondumNielsen K
Other: JOURNAL OF MEDICAL GENETICS. 1995;32(12):987-990
Partial disomy of Xp and the presence of SRY in a phenotypic female.
Bajalica S; Blennow E; Tşezou A; Galla-Voumvouraki A; Alevizaki M; Sinaniotis C; Kitsiou-Tzeli S

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Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2024-2027

Degrees and Education

Docent, Karolinska Institutet, 1998

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Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE, https://openarchive.ki.se/articles/thesis/Structural_genomic_variation_in_human_disease/26917915?file=48962779

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