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Targeted disruption of SPI3/Serpinb6 does not result in developmental or growth defects, leukocyte dysfunction, or susceptibility to strokePhenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairmentAP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesisDissecting the genetic complexity of human 6p deletion syndromes by using a region-specific, phenotype-driven mouse screen.Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchymeNovel retrotransposed imprinted locus identified at human 6p25Neuronal Actin Dynamics, Spine Density and Neuronal Dendritic Complexity Are Regulated by CAP2Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.Primary cellular meningeal defects cause neocortical dysplasia and dyslamination.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsFamilial 6p22.2 duplication associates with mild developmental delay and increased SSADH activityPhenotype mining in CNV carriers from a population cohort.Xenopus: An emerging model for studying congenital heart disease.Telomeres: a diagnosis at the end of the chromosomesDeletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersMosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.Deficiency of cyclase-associated protein 2 promotes arrhythmias associated with connexin43 maldistribution and fibrosis.Mutations responsible for Larsen syndrome cluster in the FLNB protein.Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomaliesFrontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins.Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings.Genetic, environmental, and epigenetic factors involved in CAKUT.Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)The 6p25 deletion syndrome: An update on a rare neurocristopathy.Phenotype of a Belgian Family With 6p25 Deletion Syndrome.Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse.Clinical expression of an inherited unbalanced translocation in chromosome 6.6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.Ablation of cyclase-associated protein 2 (CAP2) leads to cardiomyopathy.Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.Schizophrenia in an adult with 6p25 deletion syndrome.Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.Ophthalmological Findings in 6p Deletion Syndrome.Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Delineation of two distinct 6p deletion syndromes.
@en
Delineation of two distinct 6p deletion syndromes.
@nl
type
label
Delineation of two distinct 6p deletion syndromes.
@en
Delineation of two distinct 6p deletion syndromes.
@nl
prefLabel
Delineation of two distinct 6p deletion syndromes.
@en
Delineation of two distinct 6p deletion syndromes.
@nl
P2093
P356
P1433
P1476
Delineation of two distinct 6p deletion syndromes.
@en
P2093
Ragoussis J
Speleman F
Turnpenny P
P2888
P356
10.1007/S004390050911
P577
1999-01-01T00:00:00Z