about
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determinationA SWI/SNF-related autism syndrome caused by de novo mutations in ADNPExpanding the ataxia with oculomotor apraxia type 4 phenotypeNeu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwaySmall 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityComprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patientsGerminal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?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.Characterisation of hairy cell leukaemia by tiling resolution array-based comparative genome hybridisation: a series of 13 cases and review of the literature.Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia.Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrationsA novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsAdenovirus DNA is detected at increased frequency in Guthrie cards from children who develop acute lymphoblastic leukaemiaCytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature.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.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.Molecular and clinical delineation of the 17q22 microdeletion phenotype.Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL associationDetailed molecular and clinical characterization of three patients with 21q deletions.Medical history of discordant twins and environmental etiologies of autism.Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells.Limitations of chromosome classification by multicolor karyotyping.Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.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.Expression of PTEN and SHP1, investigated from tissue microarrays in pediatric acute lymphoblastic, leukemia.Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Further delineation of the KBG syndrome caused by ANKRD11 aberrations.CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
P50
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P50
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Zweeds onderzoekster
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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Ann Nordgren
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P1053
N-4057-2013
P106
P21
P27
P31
P3829
P496
0000-0003-3285-4281