Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

No abstract is available for this paper.

• Publication year

  2009

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2009-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.32830PMID 19449405
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

  2008cited by this paper
• Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

  2008cited by this paper
• Boys, girls and shuttling of SRY and SOX9.

  2008cited by this paper
• Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

  2007influential reference
• Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

  2007cited by this paper
• SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.

  2007influential reference
• Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

  2006influential reference
• Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern.

  2006cited by this paper
• Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

  2005influential reference
• 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.

  2005influential reference
• Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

  2005influential reference
• Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

  2004cited by this paper
• Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester

  2004cited by this paper
• 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

  2004influential reference
• Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter

  2003cited by this paper
• The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].

  2003cited by this paper
• Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p

  2003cited by this paper
• The phenotype of survivors of campomelic dysplasia

  2002influential reference
• The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6.

  2002cited by this paper
• Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

  1999cited by this paper
• Sox9 is required for cartilage formation

  1999cited by this paper
• Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia.

  1998cited by this paper
• Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9

  1996influential reference
• A male-specific role for SOX9 in vertebrate sex determination.

  1996cited by this paper
• Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal.

  1996influential reference
• Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds

  1996cited by this paper
• A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.

  1996cited by this paper
• A clinical and genetic study of campomelic dysplasia.

  1995influential reference
• Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

  1994influential reference
• Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

  1994influential reference
• Campomelic dysplasia: evidence of autosomal dominant inheritance.

  1993cited by this paper
• Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

  1993influential reference
• Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

  1992influential reference
• A new case of monosomy for 17q25----qter due to a maternal translocation [t(3;17)(p12;q24)].

  1992cited by this paper
• Prenatal diagnosis of campomelic dysplasia by ultrasonography

  1985cited by this paper
• The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

  1983cited by this paper
• The camptomelic syndrome in two female siblings

  1980cited by this paper
• Camptomelic syndrome in siblings

  1976cited by this paper
• Letter: Camptomelic syndrome in siblings.

  1976cited by this paper
• Familial camptomelic dwarfism.

  1973cited by this paper
• [Acromesomelic dwarfism].

  1971cited by this paper

• Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty

  2025influential citation
• Genetic Landscape of Robin Sequence: A Systematic Review

  2025cites this paper
• The evolution of hominin bipedalism in two steps

  2025cites this paper
• Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.

  2025cites this paper
• Advances in monogenic female infertility.

  2025cites this paper
• Functional categorization of gene regulatory variants that cause Mendelian conditions

  2024cites this paper
• SOX Genes and Their Role in Disorders of Sex Development

  2022influential citation
• Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion

  2022cites this paper
• Clinical Reports Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.

  2021cites this paper
• Targeting the Non-Coding Genome for the Diagnosis of Disorders of Sex Development

  2021cites this paper
• Ambiguous Genitalia

  2021cites this paper
• A pioneering approach for non-invasive sex identification of Chinese sturgeon at early stage

  2021cites this paper
• Nonneoplastic Diseases of the Testis

  2020cites this paper
• Translating genomics to the clinical diagnosis of disorders/differences of sex development.

  2019cites this paper
• Mechanistic insights into skeletal development gained from genetic disorders.

  2019cites this paper
• New technologies to uncover the molecular basis of disorders of sex development.

  2018cites this paper
• Altered SOX9 genital tubercle enhancer region in hypospadias.

  2017cites this paper
• Clinical Syndromes Associated with Streak Gonads with Epithelial Cords

  2017cites this paper
• Management of Disorders of Sex Development

  2017cites this paper
• SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements

  2017cites this paper
• Non‐coding variation in disorders of sex development

  2017influential citation
• Campomelic Dysplasia : 2 Cases

  2017cites this paper
• 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.

  2016cites this paper
• 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

  2015cites this paper
• Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

  2015cites this paper
• Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9

  2015influential citation
• Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis

  2015cites this paper
• Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

  2015cites this paper
• Sex Determination and Differentiation

  2015cites this paper
• Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients , and identification of seven new SOX 9 mutations

  2015cites this paper
• New Genomic Technologies: An Aid for Diagnosis of Disorders of Sex Development

  2015cites this paper
• SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype.

  2014cites this paper
• Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

  2014cites this paper
• Understanding the genetic basis of atrial fibrillation : next steps after genome-wide association studies

  2014cites this paper
• Ischiovertebral Dysplasia: A Retrospective Analysis of 30 Consecutive Cases Pointing Out the Specifics and Risks of the Spine Management

  2014cites this paper
• Disorders of sex development (DSDs): an update.

  2014cites this paper
• Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

  2014cites this paper
• Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences

  2014cites this paper
• A case of campomelic dysplasia causing a pathological fracture

  2014cites this paper
• A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome

  2013cites this paper
• Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

  2013cites this paper
• Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter

  2013influential citation
• Mammalian Sex Determination

  2013cites this paper
• Disorders of the Gonads, Genital Tract, and Genitalia

  2013cites this paper
• A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.

  2013cites this paper
• The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

  2013influential citation
• p.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia

  2013influential citation
• Translational genetics for diagnosis of human disorders of sex development.

  2013cites this paper
• Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

  2012cites this paper
• Clinical Utility Gene Card for: campomelic dysplasia

  2012cites this paper
• Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.

  2012cites this paper
• Cis -Regulatory Disruption at the SOX9 Locus as a Cause of Pierre Robin Sequence

  2012cites this paper
• Mammalian sex determination—insights from humans and mice

  2012cites this paper
• Disorders of sex development: neonatal diagnosis and management.

  2012cites this paper
• Caracterização de rearranjos cromossômicos aparentemente equilibrados associados a quadros clínicos

  2011cites this paper
• Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

  2011cites this paper
• [Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence].

  2011cites this paper
• Genetic disorders of sex differentiation.

  2011cites this paper
• Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

  2011cites this paper
• Copy-number variations, noncoding sequences, and human phenotypes.

  2011cites this paper
• Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium

  2011cites this paper
• Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

  2011cites this paper
• Mild Campomelic Dysplasia: Report on a Case and Review

  2011cites this paper
• Oligonucleotide microarrays in constitutional genetic diagnosis

  2011cites this paper
• A Case Report of Camptomelic Dysplasia

  2011cites this paper
• Molecular cloning and mRNA expression pattern of Sox9 during sex reversal in orange-spotted grouper (Epinephelus coioides)

  2010cites this paper
• Best Practice & Research Clinical Endocrinology & Metabolism

  2010cites this paper
• Molecular cloning and mRNA expression pattern of Sox 9 during sex reversal in orange-spotted grouper ( Epinephelus coioides )

  2010cites this paper
• Mutations of the SRY-Responsive Enhancer of SOX9 Are Uncommon in XY Gonadal Dysgenesis

  2010cites this paper
• The quiet revolution: Disorders of sex development.

  2010cites this paper
• Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.

  2010cites this paper
• Heterozygous SOX9 Mutations Allowing for Residual DNA‐binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia

  2010cites this paper
• Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

  2010influential citation
• Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

  2010cites this paper
• New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

  2010cites this paper
• Genetic Bone Deformities and its Treatment at Molecular Level

  year unknowncites this paper
• Cis -ruptions d’´el´ements g´enomiques hautement conserv´es non codants `a distance du g`ene SOX9 dans la s´equence de Pierre Robin

  year unknowncites this paper