about
Haploinsufficiency of TAB2 causes congenital heart defects in humansBreakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern EuropeansImprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociAssignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisationCharacterization of the exon structure of the Menkes disease gene using vectorette PCRA human phenome-interactome network of protein complexes implicated in genetic disordersX-linked recessive Menkes disease: identification of partial gene deletions in affected males.First trimester prenatal diagnosis of Menkes disease by DNA analysis.Not para-, not peri-, but centric inversion of chromosome 12.Splice site mutations in the ATP7A gene.Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsSequencing and mapping of the porcine CCS gene.Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxiaDisruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damageSingle gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.Three new loci for determining x chromosome inactivation patterns.Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical careTwo new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.Genetic anticipation in Behçet's syndromeMetaphase FISH on a chip: miniaturized microfluidic device for fluorescence in situ hybridization.Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?Clinical expression of Menkes disease in females with normal karyotype.Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-upPrenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.Breakpoints around the HOXD cluster result in various limb malformations.TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette SyndromeEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort.Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization.De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0002-4777-5802
@en
name
Zeynep Tumer
@ast
Zeynep Tumer
@en
Zeynep Tumer
@es
Zeynep Tumer
@nl
type
label
Zeynep Tumer
@ast
Zeynep Tumer
@en
Zeynep Tumer
@es
Zeynep Tumer
@nl
prefLabel
Zeynep Tumer
@ast
Zeynep Tumer
@en
Zeynep Tumer
@es
Zeynep Tumer
@nl
P106
P108
P31
P496
0000-0002-4777-5802