Copy number variation of two separate regulatory regions upstream ofSOX9causes isolated 46,XY or 46,XX disorder of sex development

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia

(2014) Lauren C. Walters-Sen et al.   European Journal of Medical Genetics

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

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

(2013) Marta Smyk et al.   CHROMOSOME RESEARCH

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

A far-upstream (−70 kb) enhancer mediates Sox9 auto-regulation in somatic tissues during development and adult regeneration

(2013) Timothy J. Mead et al.   NUCLEIC ACIDS RESEARCH

SOX9 Duplication Linked to Intersex in Deer

(2013) Regina Kropatsch 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

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

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

Control of sex development

(2010) Anna Biason-Lauber   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Sry: the master switch in mammalian sex determination

(2010) K. Kashimada et al.   DEVELOPMENT

Five-Vertebrate ChIP-seq Reveals the Evolutionary Dynamics of Transcription Factor Binding

(2010) D. Schmidt et al.   SCIENCE

Mutations of the SRY-Responsive Enhancer of SOX9 Are Uncommon in XY Gonadal Dysgenesis

(2010) I. Georg et al.   Sexual Development

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

Long-range regulation at the SOX9 locus in development and disease

(2009) C T Gordon et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Ingo Kurth et al.   NATURE GENETICS

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

(2008) Ryohei Sekido et al.   NATURE