Related references
Note: Only part of the references are listed.RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts
Helle Lybaek et al.
EPIGENETICS (2014)
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence
Christopher T. Gordon et al.
HUMAN MUTATION (2014)
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene
Bala Bhagavath et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2014)
The Database of Genomic Variants: a curated collection of structural variation in the human genome
Jeffrey R. MacDonald et al.
NUCLEIC ACIDS RESEARCH (2014)
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs
Elena Rossi et al.
PLOS ONE (2014)
Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect
Ina E. Amarillo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
Ana Carolina S. Fonseca et al.
BMC MEDICAL GENETICS (2013)
Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter
Marta Smyk et al.
CHROMOSOME RESEARCH (2013)
CNVs of noncoding cis-regulatory elements in human disease
Malte Spielmann et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2013)
A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9
Bing Xiao et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Congenital Heart Defects in Patients with Deletions Upstream of SOX9
Marta Sanchez-Castro et al.
HUMAN MUTATION (2013)
SOX9 Duplication Linked to Intersex in Deer
Regina Kropatsch et al.
PLOS ONE (2013)
XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication
Sharon Moalem et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula
Maki Fukami et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype
Jodi M. Lestner et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD
Tossaporn Seeherunvong et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2012)
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s
Elena Rossi et al.
PLOS ONE (2012)
Identification of SOX3 as an XX male sex reversal gene in mice and humans
Edwina Sutton et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
XX males SRY negative: a confirmed cause of infertility
Annalisa Vetro et al.
JOURNAL OF MEDICAL GENETICS (2011)
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
Sabina Benko et al.
JOURNAL OF MEDICAL GENETICS (2011)
A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder.
James J. Cox et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
Stefan White et al.
PLOS ONE (2011)
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
Maria Clara Bonaglia et al.
PLOS GENETICS (2011)
De Novo 12;17 Translocation Upstream of SOX9 Resulting in 46,XX Testicular Disorder of Sex Development
Osama Refai et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal
S. Jakubiczka et al.
SEXUAL DEVELOPMENT (2010)
Gene Conversion between the X Chromosome and the Male-Specific Region of the Y Chromosome at a Translocation Hotspot
Zoe H. Rosser et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Familial Acampomelic Form of Campomelic Dysplasia Caused by a 960 kb Deletion Upstream of SOX9
Claire Lecointre et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation
N. Henriette Uhlenhaut et al.
CELL (2009)
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia
Ingo Kurth et al.
NATURE GENETICS (2009)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Sabina Benko et al.
NATURE GENETICS (2009)
A 2.3 Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'
Moira Blyth et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
Stabilization of β-catenin in XY gonads causes male-to-female sex-reversal
Danielle M. Maatouk et al.
HUMAN MOLECULAR GENETICS (2008)
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
Ryohei Sekido et al.
NATURE (2008)
Cryptic deletions are a common finding in balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients
M. De Gregori et al.
JOURNAL OF MEDICAL GENETICS (2007)
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
KS Woods et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
GVN Velagaleti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Fine mapping of chromosome 17 translocation breakpoints ≥900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia
KL Hill-Harfe et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
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 -: art. no. e47
R Pop et al.
JOURNAL OF MEDICAL GENETICS (2004)
Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism
NM Solomon et al.
GENOMICS (2002)
Sox9 induces testis development in XX transgenic mice
VPI Vidal et al.
NATURE GENETICS (2001)
Share Paper
