A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
about
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndromeGenomic disorders on 22q11Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndromeIncidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western SwedenReview of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplantsModeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit developmentClinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyCopy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersDecreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn miceFeasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome.Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplicationsMicrodeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosisDiGeorge syndrome: part of CATCH 22.Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangementsIncreased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.Chromosome 22q11 deletion presenting as the Potter sequence.Prenatal diagnosis by FISH of a 22q11 deletion in two familiesA mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS.A comprehensive analysis of 22q11 gene expression in the developing and adult brain.Functional annotation of proteome encoded by human chromosome 22.Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome.Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children.Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11The phenotype of recurrent 10q22q23 deletions and duplications.High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome.Molecular analysis of the 18q- syndrome--and correlation with phenotype.Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.A population study of chromosome 22q11 deletions in infancyDiGeorge syndrome who developed lymphoproliferative mediastinal massDisrupted fornix integrity in children with chromosome 22q11.2 deletion syndrome
P2860
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P2860
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
description
1992 nî lūn-bûn
@nan
1992 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A genetic etiology for DiGeorg ...... s and microdeletions of 22q11.
@ast
A genetic etiology for DiGeorg ...... s and microdeletions of 22q11.
@en
type
label
A genetic etiology for DiGeorg ...... s and microdeletions of 22q11.
@ast
A genetic etiology for DiGeorg ...... s and microdeletions of 22q11.
@en
prefLabel
A genetic etiology for DiGeorg ...... s and microdeletions of 22q11.
@ast
A genetic etiology for DiGeorg ...... s and microdeletions of 22q11.
@en
P2093
P2860
P1476
A genetic etiology for DiGeorg ...... s and microdeletions of 22q11.
@en
P2093
B S Emanuel
D A Driscoll
M L Budarf
P2860
P304
P407
P577
1992-05-01T00:00:00Z