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About me

Ann Nordgren presently serve as Adjunct Professor of Clinical Genetics at Karolinska Institutet and senior consultant and Project Manager at the Karolinska Center for Rare Diseases (KCRD) at Clinical genetics, Karolinska University hospital. Currently, Ann Nordgren is a Swedish board certified specialist in Clinical Genetics since 2002. Her clinical work is mainly focused on genetic counceling, syndrome diagnostics and childhood cancer diagnostics using detailed phenotyping as well as molecular, cytogenetic and massive parallell sequencing techniques. In 2012 Ann Nordgren started a clinical and research multidisciplinary expert team for syndrome diagnostics. and this team is now going to be part of the international  Undiagnosed Diseases Program (UDP). She is also leading a national collaborative work to create a national quality registry for rare diseases. Ann Nordgren has a 6-year research position financed by the Swedish Childhood Cancer foundation.


Her position as researcher and project leader of KCRD has led to fruitful collaborations with patients, patient organisations, politicians, European Commission, The National Board of Health and Welfare, healthcare professionals, orphan drug industry. She is a board member of Ågrenska and a deputie in the Nordic Network for Rare Diseases, commissioned by the Nordic Council as well as board member of Ågrenska AB, Sällsyntafonden, the Swedish Pediatric Genetics Association, and the International Conference of Rare Diseases and Orphan Drugs (ICORD). She is also a member of the IRDIRC Diagnostics Scientific Committee and member of the Undiagnosed Diseases Network (UDNI), member of the research grant prioritization committee at The Swedish Cancer Society and the Swedish coordinator of a European Reference Network (ERN) for Congenital malformations and Intellectual Disability as well as national coordinator for the Nordic childhood cancer etiology group. 

Research description

Her research is directed at identifying novel human disease genes, especially genes that predispose to rare intellectual disability and malformation syndromes, overgrowth and cancer. She studies clinical phenotypes in different syndromes and looks for constitutional genetic aberrations in patients with syndromes and cancer and in families with more than one affected first or second degree relative who developed cancer in childhood. She performs genetic studies as well as careful clinical phenotyping and registry-based studies. This approach has been very rewarding and in her recent activity her research team has identified a number of novel syndromes and disease-causing genes 


Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, et al
Journal of human genetics 2017;62(4):503-506

Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch Sa, et al
Genetics in medicine : official journal of the American College of Medical Genetics 2017;19(8):900-908

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
Pettersson M, Bergendal B, Norderyd J, Nilsson D, Anderlid Bm, Nordgren A, et al
American journal of medical genetics. Part A 2017;173(5):1396-1399

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

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Bramswig Nc, Lüdecke Hj, Pettersson M, Albrecht B, Bernier Ra, Cremer K, et al
Human genetics 2017;136(2):179-192

Medical history of discordant twins and environmental etiologies of autism
Willfors C, Carlsson T, Anderlid Bm, Nordgren A, Kostrzewa E, Berggren S, et al
Translational psychiatry 2017;7(1):e1014-

Minor physical anomalies in neurodevelopmental disorders: a twin study
Myers L, Anderlid Bm, Nordgren A, Willfors C, Kuja-halkola R, Tammimies K, et al

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha Km, et al
Scientific reports 2017;7(1):15585-

Otillräcklig kunskap om samband mellan könskromosom­­avvikelser och psykiatriska diagnoser - Viktigt att barn och unga utreds och får rätt omhändertagande
Björlin Avdic H, Giacobini M, Anderlid Bm, Nordgren A, Frisén L
Lakartidningen 2017;114():-

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

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E, Eklund Ea, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-robinson K, et al
European journal of human genetics : EJHG 2016;24(2):198-207

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome
Wincent J, Luthman A, Van Belzen M, Van Der Lans C, Albert J, Nordgren A, et al
Molecular genetics & genomic medicine 2016;4(1):39-45

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders Mr, Zachariadis V, Latour B, Jolly L, Mancini Gm, Pfundt R, et al
American journal of human genetics 2016;98(2):373-81

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

Expanding the ataxia with oculomotor apraxia type 4 phenotype
Paucar M, Malmgren H, Taylor M, Reynolds Jj, Svenningsson P, Press R, et al
Neurology. Genetics 2016;2(1):e49-

Increased risk of colorectal cancer in patients diagnosed with breast cancer in women
Lu Y, Segelman J, Nordgren A, Lindström L, Frisell J, Martling A
Cancer epidemiology 2016;41():57-62

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

PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia
Marincevic-zuniga Y, Zachariadis V, Cavelier L, Castor A, Barbany G, Forestier E, et al
Haematologica 2016;101(1):e20-3

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Kapferer-seebacher I, Pepin M, Werner R, Aitman Tj, Nordgren A, Stoiber H, et al
American journal of human genetics 2016;99(5):1005-1014

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour Cm, Arveiler B, et al
American journal of medical genetics. Part A 2016;170(12):3069-3082

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
Kasher Pr, Schertz Ke, Thomas M, Jackson A, Annunziata S, Ballesta-martinez Mj, et al
American journal of human genetics 2016;98(2):363-72

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

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia
Nordlund J, Bäcklin Cl, Zachariadis V, Cavelier L, Dahlberg J, Öfverholm I, et al
Clinical epigenetics 2015;7():11-

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features
Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs Ha, et al
American journal of human genetics 2015;96(3):507-13

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Ockeloen Cw, Willemsen Mh, De Munnik S, Van Bon Bw, De Leeuw N, Verrips A, et al
European journal of human genetics : EJHG 2015;23(9):1176-85

No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations
Winberg J, Berggren H, Malm T, Johansson S, Johansson Ramgren J, Nilsson B, et al
European journal of medical genetics 2015;58(3):129-33

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
Reynaert N, Ockeloen Cw, Savendahl L, Beckers D, Devriendt K, Kleefstra T, et al

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

The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013
Olsson L, Ivanov Öfverholm I, Norén-nyström U, Zachariadis V, Nordlund J, Sjögren H, et al
British journal of haematology 2015;170(6):847-58

The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia
Paulsson K, Lilljebjörn H, Biloglav A, Olsson L, Rissler M, Castor A, et al
Nature genetics 2015;47(6):672-6

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Helsmoortel C, Vulto-van Silfhout At, Coe Bp, Vandeweyer G, Rooms L, Van Den Ende J, et al
Nature genetics 2014;46(4):380-4

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

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries
Lundin C, Forestier E, Klarskov Andersen M, Autio K, Barbany G, Cavelier L, et al
Journal of hematology & oncology 2014;7():32-

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

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, et al
Molecular genetics & genomic medicine 2014;2(5):402-11

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association
Winberg J, Gustavsson P, Papadogiannakis N, Sahlin E, Bradley F, Nordenskjöld E, et al
PloS one 2014;9(1):e85313-

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

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype
Anderlid Bm, Lundin J, Malmgren H, Lehtihet M, Nordgren A
American journal of medical genetics. Part A 2014;164A(2):425-31

The Roots of Autism and ADHD Twin Study in Sweden (RATSS)
Bölte S, Willfors C, Berggren S, Norberg J, Poltrago L, Mevel K, et al
Twin research and human genetics : the official journal of the International Society for Twin Studies 2014;17(3):164-76

The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes With Autism
Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout At, Coe Bp, Bernier R, et al

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

Distinct patterns of gained chromosomes in high hyperdiploid acute lymphoblastic leukemia with t(1;19)(q23;p13), t(9;22)(q34;q22) or MLL rearrangements
Paulsson K, Harrison Cj, Andersen Mk, Chilton L, Nordgren A, Moorman Av, et al
Leukemia 2013;27(4):974-7

High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols
Paulsson K, Forestier E, Andersen Mk, Autio K, Barbany G, Borgström G, et al
Haematologica 2013;98(9):1424-32

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

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
Makrythanasis P, Van Bon Bw, Steehouwer M, Rodriguez-santiago B, Simpson M, Dias P, et al
CLINICAL GENETICS 2013;84(6):539-45

Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T, Lundin J, Anderlid Bm, Gorski Jl, Grigelioniene G, Knight Sj, et al
European journal of human genetics : EJHG 2013;21(10):1085-92

Partial tetrasomy 14 associated with multiple malformations
Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, et al
American journal of medical genetics. Part A 2013;161A(6):1284-90

The ETV6/RUNX1 fusion transcript is not detected in RNA isolated from neonatal dried blood spots from children later diagnosed with the corresponding leukemia
Barbany G, Gauffin F, Ofverholm I, Karlsson H, Thorn I, Arvidson J, et al
LEUKEMIA & LYMPHOMA 2013;54(12):2742-4

The phenotype range of achondrogenesis 1A
Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A, et al
American journal of medical genetics. Part A 2013;161A(10):2554-8

Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol
Nopho Leukaemia Cytogenetic Study, Swedish Cytogenetic Leukaemia St, Nordic Soc Paediat Haematology, Barbany G, Andersen Mk, Autio K, et al
LEUKEMIA RESEARCH 2012;36(7):936-8

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
Laurell T, Vandermeer Je, Wenger Am, Grigelioniene G, Nordenskjöld A, Arner M, et al
Human mutation 2012;33(7):1063-6

High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome
Lundin C, Hjorth L, Behrendtz M, Nordgren A, Palmqvist L, Andersen Mk, et al
GENES CHROMOSOMES & CANCER 2012;51(2):196-206

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

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

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

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters Rg, Kutalik Z, et al
NATURE 2011;478(7367):97-102

Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols
Andersen Mk, Autio K, Barbany G, Borgstrom G, Cavelier L, Golovleva I, et al

Characterisation of hairy cell leukaemia by tiling resolution array-based comparative Genome hybridisation: a series of 13 cases and review of the literature
Nordgren A, Corcoran M, Saaf A, Bremer A, Kluin-nelemans Hc, Schoumans J, et al

Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J, Gustavsson P, Lagerstedt-robinson K, Blennow E, Lundin J, Iwarsson E, et al

Detailed molecular and clinical characterization of three patients with 21q deletions
Lindstrand A, Malmgren H, Sahlen S, Schoumans J, Nordgren A, Ergander U, et al
CLINICAL GENETICS 2010;77(2):145-54

[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

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?
Hulten Ma, Jonasson J, Nordgren A, Iwarsson E
CURRENT GENOMICS 2010;11(6):409-19

Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions
Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, Nordgren A, et al

Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations
Davidsson J, Paulsson K, Lindgren D, Lilljebjorn H, Chaplin T, Forestier E, et al
LEUKEMIA 2010;24(5):924-31

Atypical deletion in the Prader Willi region
Nordgren A, Lundin J, Malmgren H, Lehtihet M, Anderlid B

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
Nordic Soc Pediat Hematology Oncol, Nopho Leukemia Cytogenetic Study G, Sclsg, Karrman K, Forestier E, Heyman M, et al
GENES CHROMOSOMES & CANCER 2009;48(9):795-805

Dic(9;20)(p13;q11) in childhood acute lymphoblastic leukaemia is related to low cellular resistance to asparaginase, cytarabine and corticosteroids
Nordic Soc Paediat Haematology & O, Lonnerholm G, Nordgren A, Frost Bm, Jonsson Og, Kanerva J, et al
LEUKEMIA 2009;23(1):209-12

Gauffin F, Diffner E, Gustafsson B, Nordgren A, Wingren Ag, Sander B, et al

Expression of VEGF and VEGF Receptors in Childhood Precursor B-cell Acute Lymphoblastic Leukemia Evaluated by Immunohistochemistry
Diffner E, Gauffin F, Anagnostaki L, Nordgren A, Gustafsson B, Sander B, et al

Jumping Translocation in a Phenotypically Normal Male: A Study of Mosaicism in Spermatozoa, Lymphocytes, and Fibroblasts
Iwarsson E, Sahlen S, Nordgren A

Quantitation of RNA decay in dried blood spots during 20 years of storage
Gauffin F, Nordgren A, Barbany G, Gustafsson B, Karlsson H

Relapsed Childhood High Hyperdiploid Acute Lymphoblastic Leukemia: Genome-Wide Screening Reveals the Presence of Preleukemic Ancestral Clones and the Secondary Nature of Microdeletions and RTK-RAS Mutations
Davidsson J, Paulsson K, Lindgren D, Lilljebjorn H, Chaplin T, Forestier E, et al
BLOOD 2009;114(22):1017-1017

Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells
Akagi T, Shih Ly, Ogawa S, Gerss J, Moore Sr, Schreck R, et al

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, et al

Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia
Thelander Ef, Ichimura K, Corcoran M, Barbany G, Nordgren A, Heyman M, et al
LEUKEMIA & LYMPHOMA 2008;49(3):477-87

Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature
Nopho, Nlcsg, Sclsg, Forestier E, Gauffin F, Andersen Mk, et al
GENES CHROMOSOMES & CANCER 2008;47(2):149-58

Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival
Nordic Soc Paediatr Haematology No, Nlcsg, Sclsg, Forestier E, Heyman M, Andersen Mk, et al

U-2973, a novel B-cell line established from a patient with a mature B-cell leukemia displaying concurrent t(14;18) and MYC translocation to a non-IG gene partner
Bostrom H, Leuchowius Kj, Hallbook H, Nordgren A, Thorn I, Thorselius M, et al

Adenovirus DNA is detected at increased frequency in Guthrie cards from children who develop acute lymphoblastic leukaemia
Gustafsson B, Huang W, Bogdanovic G, Gauffin F, Nordgren A, Talekar G, et al

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Schoumans J, Wincent J, Barbaro M, Djureinovic T, Maguire P, Forsberg L, et al

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, et al
GENES CHROMOSOMES & CANCER 2007;46(5):440-50

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

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
Hilton En, Manson Fdc, Urquhart Je, Johnston Jj, Slavotinek Am, Hedera P, et al
HUMAN MOLECULAR GENETICS 2007;16(14):1773-82

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

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, et al

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

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

Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001
Nopho, Nlcsg, Sclsg, Forestier E, Heim S, Blennow E, et al

Hidden aberrations diagnosed by interphase fluorescence in situ hybridisation and spectral karyotyping in childhood acute lymphoblastic leukaemia
Nordgren A
LEUKEMIA & LYMPHOMA 2003;44(12):2039-53

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

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

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

Limitations of chromosome classification by multicolor karyotyping
Lee C, Gisselsson D, Jin C, Nordgren A, Ferguson Do, Blennow E, et al

Chromosomal alterations in 15 breast cancer cell lines by comparative genomic hybridization and spectral karyotyping
Kytola S, Rummukainen J, Nordgren A, Karhu R, Farnebo F, Isola J, et al
GENES CHROMOSOMES & CANCER 2000;28(3):308-17

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

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

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

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

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

A T cell lymphoblastic lymphoma patient with two malignant cell populations carrying different 9p deletions including the p16(INK4) and p15(INK4B) genes. Clinical response to interferon-alpha therapy in one of the subclones
Heyman M, Nordgren A, Jedditehrani M, Rasool O, Liu Y, Grander D, et al
LEUKEMIA 1996;10(5):909-17

Clonal cell lineage involvement in myelodysplastic syndromes studied by fluorescence in situ hybridizaiion and morphology
Bernell P, Jacobsson B, Nordgren A, Hast R
LEUKEMIA 1996;10(4):662-8

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