Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence

(2014) Christopher T. Gordon et al.   HUMAN MUTATION

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

(2014) Bala Bhagavath et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs

(2014) Elena Rossi et al.   PLoS One

Familial Microdeletion of 17q24.3 Upstream ofSOX9Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

(2013) Ina E. Amarillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

(2013) Ana Carolina S Fonseca et al.   BMC Medical Genetics

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter

(2013) Marta Smyk et al.   CHROMOSOME RESEARCH

CNVs of noncoding cis-regulatory elements in human disease

(2013) Malte Spielmann et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

RevSex duplication-induced and sex-related differences in theSOX9regulatory region chromatin landscape in human fibroblasts

(2013) Helle Lybæk et al.   Epigenetics

A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9

(2013) Bing Xiao et al.   European Journal of Medical Genetics

Congenital Heart Defects in Patients with Deletions Upstream ofSOX9

(2013) Marta Sanchez-Castro et al.   HUMAN MUTATION

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

SOX9 Duplication Linked to Intersex in Deer

(2013) Regina Kropatsch et al.   PLoS One

XX male sex reversal with genital abnormalities associated with a de novoSOX3gene duplication

(2012) Sharon Moalem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Complex genomic rearrangement in theSOX95′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

(2012) Maki Fukami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Delineating the 17q24.2–q24.3 microdeletion syndrome phenotype

(2012) Jodi M. Lestner et al.   European Journal of Medical Genetics

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

(2012) Elena Rossi et al.   PLoS One

XX males SRY negative: a confirmed cause of infertility

(2011) A. Vetro et al.   JOURNAL OF MEDICAL GENETICS

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

(2011) S. Benko et al.   JOURNAL OF MEDICAL GENETICS

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

(2011) Tossaporn Seeherunvong et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder

(2011) James J. Cox et al.   NEW ENGLAND JOURNAL OF MEDICINE

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

(2011) Stefan White et al.   PLoS One

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

De novo 12;17 translocation upstream ofSOX9resulting in 46,XX testicular disorder of sex development

(2010) Osama Refai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of SOX3 as an XX male sex reversal gene in mice and humans

(2010) Edwina Sutton et al.   JOURNAL OF CLINICAL INVESTIGATION

Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

(2010) S. Jakubiczka et al.   Sexual Development

Gene Conversion between the X Chromosome and the Male-Specific Region of the Y Chromosome at a Translocation Hotspot

(2009) Zoë H. Rosser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream ofSOX9

(2009) Claire Lecointre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation

(2009) N. Henriette Uhlenhaut et al.   CELL

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

(2009) Ingo Kurth et al.   NATURE GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

A 2.3Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’

(2008) Moira Blyth et al.   European Journal of Medical Genetics

Stabilization of β-catenin in XY gonads causes male-to-female sex-reversal

(2008) Danielle M. Maatouk et al.   HUMAN MOLECULAR GENETICS

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

(2008) Ryohei Sekido et al.   NATURE