A locus for isolated cleft palate, located on human chromosome 2q32
about
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndromeSatb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw developmentDisorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.The clinical significance of small copy number variants in neurodevelopmental disordersGenomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34Roles of SATB2 in osteogenic differentiation and bone regenerationFurther delineation of the SATB2 phenotype.Current concepts in genetics of nonsyndromic cleftsDisruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.Role of tissue-specific AT-rich DNA sequence-binding proteins in lymphocyte differentiation.Sumoylation in Craniofacial Disorders.Genetic Screening in Patients with Craniofacial Malformations.Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Satb2 Ablation Impairs Hippocampus-Based Long-Term Spatial Memory and Short-Term Working Memory and Immediate Early Genes (IEGs)-Mediated Hippocampal Synaptic Plasticity.Genetics and management of the patient with orofacial cleft.Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population.Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.Chromosomal abnormalities in Finnish orofacial cleft patients: excess of submucous cleft patients?Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.Classification of oral clefts by affection site and laterality: a genotype-phenotype correlation study.Mixed clefting type in Rapp-Hodgkin syndrome.SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
P2860
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P2860
A locus for isolated cleft palate, located on human chromosome 2q32
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A locus for isolated cleft palate, located on human chromosome 2q32
@ast
A locus for isolated cleft palate, located on human chromosome 2q32
@en
A locus for isolated cleft palate, located on human chromosome 2q32
@nl
type
label
A locus for isolated cleft palate, located on human chromosome 2q32
@ast
A locus for isolated cleft palate, located on human chromosome 2q32
@en
A locus for isolated cleft palate, located on human chromosome 2q32
@nl
prefLabel
A locus for isolated cleft palate, located on human chromosome 2q32
@ast
A locus for isolated cleft palate, located on human chromosome 2q32
@en
A locus for isolated cleft palate, located on human chromosome 2q32
@nl
P2093
P2860
P50
P356
P1476
A locus for isolated cleft palate, located on human chromosome 2q32
@en
P2093
P2860
P304
P356
10.1086/302498
P407
P577
1999-08-01T00:00:00Z