A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
about
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1GATA3 haplo-insufficiency causes human HDR syndromeHIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletionFeatures of DiGeorge syndrome and CHARGE association in five patients.MRI findings in a patient with partial monosomy 10p.22q11 deletion syndrome: a genetic subtype of schizophrenia.An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene.Transcriptional regulation of cardiac development: implications for congenital heart disease and DiGeorge syndrome.Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.Prenatal diagnosis of the 22q11.2 deletion syndrome.A locus for isolated cleft palate, located on human chromosome 2q32Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortionConstitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two casesUtero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.Telomeres: a diagnosis at the end of the chromosomesMolecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.A monoallelic-to-biallelic T-cell transcriptional switch regulates GATA3 abundance.Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).22q11.2 deletion syndromeGenomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete AthymiaFOXN1 in organ development and human diseases.Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis.Inflammatory response to chronic otitis media in DiGeorge syndrome: a case study using immunohistochemistry on archival temporal bone sections.Genetic Variants Associated with Circulating Parathyroid Hormone.GATA3 Abundance Is a Critical Determinant of T Cell Receptor β Allelic Exclusion.Primary immunodeficiency diseases: dissectors of the immune system.Homeobox genes in embryogenesis and pathogenesis.T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome.The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2.Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA.Partial DiGeorge syndrome in two patients with a 10p rearrangement.Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities.
P2860
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P2860
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
description
article
@en
im August 1996 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 1996
@uk
name
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
@en
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
@nl
type
label
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
@en
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
@nl
prefLabel
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
@en
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
@nl
P2093
P50
P356
P1433
P1476
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
@en
P2093
Catherine Taylor
Judith Goodship
Kathy Call
Sara C.M. Daw
Simone Schuffenhauer
Tony Lipson
P2888
P304
P356
10.1038/NG0896-458
P407
P577
1996-08-01T00:00:00Z