The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
about
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndromeBiogenesis and mechanism of action of small non-coding RNAs: insights from the point of view of structural biologyPractical guidelines for managing patients with 22q11.2 deletion syndromeEtiology and clinical presentation of birth defects: population based studyHuman chromosome 22.Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosisMolecular mechanisms and diagnosis of chromosome 22q11.2 rearrangementsDiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).Microdeletion syndromes, balanced translocations, and gene mappingTwo 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.The 22q11.2 deletion: from diversity to a single gene theory.Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.A prospective cytogenetic study of 36 cases of DiGeorge syndromeMolecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.Cytogenetic findings in a prospective series of patients with DiGeorge anomalyA new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic featuresMolecular definition of the 22q11 deletions in velo-cardio-facial syndromeDeletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome.The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.22q11.2 deletion syndromeDevelopmental trajectories in 22q11.2 deletion.Otologic and audiologic findings in 22q11.2 deletion syndrome.Immunological aspects of 22q11.2 deletion syndrome.Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete AthymiaChromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Molecular studies of DiGeorge syndrome.DiGeorge syndrome: an historical review of clinical and cytogenetic features.Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.How many breaks do we need to CATCH on 22q11?Molecular characterization of the deletion in retinoblastoma patients with 13q14 cytogenetic anomalies.DiGeorge syndrome in a child with partial monosomy of chromosome 22.
P2860
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P2860
The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
description
1982 nî lūn-bûn
@nan
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
1982年论文
@zh
1982年论文
@zh-cn
name
The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
@en
type
label
The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
@en
prefLabel
The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
@en
P2093
P1476
The association of the DiGeorge anomalad with partial monosomy of chromosome 22.
@en
P2093
Emanuel BS
Greenberg F
Kistenmacher M
Punnett HH
P304
P356
10.1016/S0022-3476(82)80116-9
P407
P577
1982-08-01T00:00:00Z