About: Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

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About: Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region Goto Sponge NotDistinct Permalink

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scientific article published on 01 March 1995

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в березні 1995 (uk) article scientifique publié en 1995 (fr) im März 1995 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 1995 (ast) scientific article published on 01 March 1995 (en)
publication date	wds:Q57813361-5C6DB2B9-618B-4ACF-9EA3-BE4666946AD0
publication date	1995-03-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q57813361-5FDD4742-25AD-40D6-8549-294AB7A3643A wds:Q57813361-91DEC495-DD96-41AC-8E3B-916C61E2710B wds:Q57813361-AA8AA051-F872-4D8F-96B1-F4FE94240250 wds:Q57813361-B1D19E99-87F5-4866-8CEE-0C5021E492A4 wds:Q57813361-C8A2EE8C-1A59-4ADD-9403-C055B76D1BA8
author name string	Greenberg F Baldini A Shaffer LG Lindsay EA Shapira SK
rdfs:label	Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region (en) Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region (nl)
skos:prefLabel	Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region (en) Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region (nl)
name	Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region (en) Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region (nl)
author	wds:Q57813361-47C135C0-DA55-4999-B2E9-C217581CB4B5
author	Peter J Scambler
title	wds:Q57813361-94A8001E-39A5-423B-9247-314ADC7A0AA7
title	Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region (en)
page(s)	wds:Q57813361-3F6F7E6E-B7CE-4C2F-BFFC-94055980D4EF
page(s)	191-197
instance of	wds:Q57813361-339B1B9D-2FE9-46A9-A77C-82CB79678240
instance of	scholarly article
PubMed ID	wds:Q57813361-288421EE-A106-4D43-9286-095EC6AE0095
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7625444
PubMed ID	7625444
published in	wds:Q57813361-02B6D875-B0A9-4BDD-950B-8E1B6FA700E8
published in	American Journal of Medical Genetics Part A
issue	wds:Q57813361-64E90FBC-FE8C-483E-82AA-3731C20A102F
volume	wds:Q57813361-9B6322C9-7F39-4983-B9AA-84210D67CE66
issue	2
volume	56
DOI	wds:Q57813361-FC09E67D-5476-4B8E-ABD7-121B79885A2B
DOI	http://dx.doi.org/10.1002/AJMG.1320560216
DOI	10.1002/AJMG.1320560216
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57813361
is cites work of	Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome Phenotype of adults with the 22q11 deletion syndrome: A review A common region of 10p deleted in DiGeorge and velocardiofacial syndromes Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11 Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients Clinical features of 78 adults with 22q11 Deletion Syndrome. Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Another critical region for deletion of 22q11: a study of 100 patients. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene 22q11 deletion syndrome: a genetic subtype of schizophrenia Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Chromosome 22q11 deletion presenting as the Potter sequence What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans A patient with 22q11.2 deletion syndrome: case report Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot. Conotruncal heart defects and chromosome 22q11 microdeletion Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region. Association of copy number polymorphisms at the promoter and translated region of COMT with Japanese patients with schizophrenia. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semiquantitative polymerase chain reaction method. Direct selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like gene Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome. MicroRNAs in Schizophrenia: Implications for Synaptic Plasticity and Dopamine-Glutamate Interaction at the Postsynaptic Density. New Avenues for Antipsychotic Treatment Under a Theranostic Perspective. Prenatal diagnosis by FISH of a 22q11 deletion in two families New findings from genetic association studies of schizophrenia Associations of common copy number variants in glutathione S-transferase mu 1 and D-dopachrome tautomerase-like protein genes with risk of schizophrenia in a Japanese population Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects Otitis media in children with congenital immunodeficiencies Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory A 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. Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome) Tricuspid atresia and 22q11 deletion How many breaks do we need to CATCH on 22q11? Velocardiofacial syndrome Schizophrenia and Hypocalcaemia: Variable Phenotype of Deletion at Chromosome 22q11 Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH. Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children.
is cites work of	wds:Q24317602-04053383-1766-4048-B6EA-6D0663C52057 wds:Q34063057-E055BD4B-C055-43A3-866B-DEAF531B6E61 wds:Q42678770-7263291C-3DC0-4C23-998A-DD36713BE0C2

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