Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
about
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndromeBipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent triosHomozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndromeIncidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western SwedenCNVs in neuropsychiatric disordersChromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complicationsAnalysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFSClinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11Verification of speech spectrum audibility for pediatric Baha Softband users with craniofacial anomaliesCopy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report.Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersAgenesis of the corpus callosum associated with DiGeorge-velocardiofacial syndrome: a case report and review of the literature.Bernard-Soulier syndrome associated with 22q11.2 microdeletion.Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.Velo-cardio-facial syndrome: 30 Years of study.Microdeletions 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.Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangementsChildren with chromosome 22q11.2 deletion syndrome exhibit impaired spatial working memory.Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?Alagille syndrome.The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.Phenotype of adults with the 22q11 deletion syndrome: A reviewStructure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene.Quality of life among children with velocardiofacial syndrome.Adaptive strategy for the statistical analysis of connectomes.Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.Endocrine aspects of the 22q11.2 deletion syndrome.Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion.Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.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.The KRAB zinc finger gene ZNF74 encodes an RNA-binding protein tightly associated with the nuclear matrix.Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11
P2860
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P2860
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
description
1992 nî lūn-bûn
@nan
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
1992年论文
@zh
1992年论文
@zh-cn
name
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
@en
type
label
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
@en
prefLabel
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
@en
P2093
P356
P1476
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
@en
P2093
Driscoll DA
Goldberg RB
McDonald-McGinn DM
Shprintzen RJ
Spinner NB
P304
P356
10.1002/AJMG.1320440237
P577
1992-09-01T00:00:00Z