Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal
about
Mammalian sex determination—insights from humans and mice.Genetic background of HSH in three Polish families and a patient with an X;9 translocationPierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.Long-range control of gene expression: emerging mechanisms and disruption in disease.Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasiaClinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersNon-coding genetic variants in human disease.Remote control of gene transcription.From SRY to SOX9: mammalian testis differentiation.Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development.Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.Looking beyond the genes: the role of non-coding variants in human disease.Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.Non-coding variation in disorders of sex development.Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.Clinical Utility Gene Card for: campomelic dysplasia.Genomic disorders 20 years on-mechanisms for clinical manifestations.A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.
P2860
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P2860
Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal
description
2004 nî lūn-bûn
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2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
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2004年论文
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name
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@ast
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@en
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@nl
type
label
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@ast
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@en
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@nl
prefLabel
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@ast
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@en
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@nl
P2093
P356
P1476
Screening of the 1 Mb SOX9 5' ...... dysplasia with XY sex reversal
@en
P2093
B Schmalenberger
K S Lindenberg
P356
10.1136/JMG.2003.013185
P407
P577
2004-04-01T00:00:00Z