Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.
about
Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesMutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probesA genome-wide scan for signatures of differential artificial selection in ten cattle breeds.Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic featuresExisting challenges associated with offering prenatal genetic diagnosis in an Arab society in the Sultanate of Oman.MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype.Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
P2860
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P2860
Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@ast
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@en
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@nl
type
label
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@ast
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@en
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@nl
prefLabel
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@ast
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@en
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@nl
P2093
P2860
P356
P1476
Interstitial Deletions at 6q14 ...... a Distinct Clinical Phenotype.
@en
P2093
A-C Thuresson
E-L Stattin
F H Sharkey
P2860
P356
10.1159/000314025
P577
2010-06-09T00:00:00Z