Elisabeth Syk Lundberg

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

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; Käller M; Gruselius J; Nilsson D; Syk Lundberg E; 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; Nordenskjöld 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; Mäkitie O; Nordgren A; Vezzi F; Wirta V; Käller M; Hjortshøj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tümer 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; Syk Lundberg E; 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.

Haapaniemi Kouru K; Malmgren H; White I; Rodriguez Sanchez A; Syk Lundberg E
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: 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: 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: 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: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164A(12):3083-3087

Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.

Liedén 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; Nordenskjöld 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; Stödberg T; Mäkitie O; Anderlid B-M; Bryceson YT; Nordenskjöld 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.

Haapaniemi Kouru K; Malmgren H; Nordenskjöld M; Fridström 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; Thåström 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; Lönnerholm G; Nordenskjöld M; Johansson B; Forestier E; Nordgren A; Nordic Society of Pediatric Hematology, Oncology (; Swedish Cytogenetic Leukemia Study Group (SCLSG)
Article: SEMINARS IN FETAL & 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; Söderhäll S; Forestier E; Wehner P; Vettenranta K; Jonsson O; Wesenberg F; Sahlén S; Nordenskjöld 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; Nordenström A; Anderlid B-M; Bondeson M-L; Nordenskjöld 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; Sahlén S; Schoumans J; Nordgren A; Ergander U; Holm E; Anderlid BM; Blennow E
Article: GENES CHROMOSOMES & 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; Borgström G; Ehrencrona H; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Palmqvist L; Johansson B; Nordic Society of Pediatric Hematology, Oncology (; Swedish Cytogenetic Leukemia Study Group (SCLSG); NOPHO Leukemia Cytogenetic Study Group (NLCSG)
Article: HAEMATOLOGICA. 2009;94(7):1016-1019

Overexpression of CD123 correlates with the hyperdiploid genotype in acute lymphoblastic leukemia.

Djokic M; Björklund E; Blennow E; Mazur J; Söderhäll S; Porwit A
Article: CLINICAL GENETICS. 2008;74(1):61-67

Concurrent microdeletion and duplication of 22q11.2.

Blennow E; Lagerstedt K; Malmgren H; Sahlén S; Schoumans J; Anderlid B
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; Söderhäll S; Grandér D; Nordenskjöld 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; Borgström G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B; Nordic Society of Paediatric Haematology, Oncology; Swedish Cytogenetic Leukaemia Study Group (SCLSG); NOPHO Leukaemia Cytogenetic Study Group (NLCSG)
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.

Ström S; Inzunza J; Grinnemo K-H; Holmberg K; Matilainen E; Strömberg 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; Sahlén 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; Szöke 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; Grandér 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; Szöke K; Csöregh 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; Fridström 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 J-I; Smirnov AF; Nordenskjöld M; Fadeel B
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2005;139(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; Ahrlund-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 & 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 A-M; 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 B-M; Blennow E; Brøndum-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 B-M; 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 A-M; 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; Nordic Society of Paediatric Haematology and Oncol; Swedish Cytogenetic Leukaemia Study Group (SCLSG); NOPHO Leukaemia Cytogenetic Study Group (NLCSG)
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 A; Zheng C; Hou M; Lindvall C; Li K-J; Erlandsson F; Björkholm M; Gruber A; Blennow E; Xu D
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 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; Diaz De Ståhl T; Rosenquist M; Ali H; Jarbo C; De Bustos C; Hirvelä C; Sinder Wilén B; Fransson I; Thyr C; Johnsson B-I; 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 & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY. 2002;16(5):629-643

Prenatal diagnosis: molecular genetics and cytogenetics.

Bui T-H; 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 & CANCER. 2002;34(3):269-275

Amplification of the telomerase reverse transcriptase (hTERT) gene in cervical carcinomas.

Zhang A; Zheng C; Hou M; Lindvall C; Wallin K-L; Angström T; Yang X; Hellström A-C; Blennow E; Björkholm M; Zetterberg A; Gruber A; Xu D
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: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2002;9(4):405-409

A region close to Tp53 shows LOH in familial breast cancer.

Luo L; Chen J; 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 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: 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: 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; Ahsgren 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 CE; 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; Niimura M; Sahlén S; Blennow E; Albertson DG; Pinkel D; Dumanski JP
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: 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: 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: 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 CE; 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; Sørensen 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.

Vorechovský I; Blennow E; Nordenskjöld M; Webster AD; Hammarström L
Article: GENES CHROMOSOMES & 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; Ahrlund-Richter L; Sjöblom P; Lundkvist O; 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; Ahrlund-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; Fridström M; Rosenlund B; Hillensjö T; Sjöblom P; Nordenskjöld M; Blennow E
Article: GENES CHROMOSOMES & 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; Fridström M; Hillensjö T; Sjöblom P; Nordenskjöld M; Blennow E
Article: GENES CHROMOSOMES & 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; Sahlén S; Hii SI; Brookwell R; Brauch H; Nordenskjöld M; 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; Nordenskjöld M; Söderhäll S; Porwit-MacDonald 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.

Jönsson EG; Härnryd C; Johannesson T; Wahlström J; Bergenius J; Bergstedt H; Greitz D; Nyman H; Björck 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

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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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; Sahlén 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; Söderhäll S; Grandér D; Nordenskjöld M; Blennow E
Review: GENES CHROMOSOMES & CANCER. 2007;46(5):440-450

Cytogenetic patterns in ETV6/RUNX1-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; Borgström G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B; Nordic Society of Pediatric Hematology and Oncolog; Swedish Cytogenetic Leukemia Study Group (SCLSG); NOPHO Leukemia Cytogenetic Study Group (NLCSG)
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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Anknuten till Forskning, Molekylär medicin och kirurgi, Karolinska Institutet, 2021-2024

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Docent, Inriktning: Medicinsk genetik, Karolinska Institutet, 1998

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