Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

Polymorphism of the CTNNB1 and FOXL2 Genes is not Associated with Canine XX Testicular/Ovotesticular Disorder of Sex Development

(2015) Sylwia Salamon et al.   FOLIA BIOLOGICA-KRAKOW

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

(2015) Gwang-Jin Kim et al.   JOURNAL OF MEDICAL GENETICS

A Revised Genome Assembly of the Region 5′ to Canine SOX9 Includes the RevSex Orthologous Region

(2015) Elena Rossi et al.   Sexual Development

Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array

(2014) Anna-Maja Molin et al.   BMC GENOMICS

General assessment of copy number variation in normal and tumor tissues of the domestic dog (Canis lupus familiaris)

(2014) Artur Gurgul et al.   JOURNAL OF APPLIED GENETICS

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

(2014) Elena Rossi et al.   PLoS One

A Lack of Association between Polymorphisms of Three Positional Candidate Genes(CLASP2,UBP1,andFBXL2)and Canine Disorder of Sexual Development (78,XX;SRY-Negative)

(2014) Sylwia Salamon et al.   Sexual Development

Copy Number Variation in the Horse Genome

(2014) Sharmila Ghosh et al.   PLoS Genetics

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

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

SOX9 Duplication Linked to Intersex in Deer

(2013) Regina Kropatsch et al.   PLoS One

A Genome-Wide Association Study Points out the Causal Implication of SOX9 in the Sex-Reversal Phenotype in XX Pigs

(2013) Sarah Rousseau 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

Molecular methods for genotyping complex copy number polymorphisms

(2012) Stuart Cantsilieris et al.   GENOMICS

Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

(2012) Liborio Stuppia et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Novel origins of copy number variation in the dog genome

(2012) Jonas Berglund et al.   GENOME BIOLOGY

The molecular and cellular basis of gonadal sex reversal in mice and humans

(2012) Nick Warr et al.   Wiley Interdisciplinary Reviews-Developmental Biology

A selective sweep of >8 Mb on chromosome 26 in the Boxer genome

(2011) Javier Quilez et al.   BMC GENOMICS

A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog

(2011) Thomas J Nicholas et al.   BMC GENOMICS

Sex determination and the control ofSox9expression in mammals

(2011) Susanne Jakob et al.   FEBS Journal

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

Copy number variation in the domestic dog

(2011) Carlos E. Alvarez et al.   MAMMALIAN GENOME

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder

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

Robertsonian Translocation in a Sex Reversal Dog (XX, SRY negative) May Indicate that the Causative Mutation for This Intersexuality Syndrome Resides on Canine Chromosome 23 (CFA23)

(2011) M. Switonski et al.   Sexual Development

Hypospadias in a Male (78,XY; SRY-Positive) Dog and Sex Reversal Female (78,XX; SRY-Negative) Dogs: Clinical, Histological and Genetic Studies

(2011) M. Switonski et al.   Sexual Development

Telling the Story of XX Sex Reversal in the Goat: Highlighting the Sex-Crossroad in Domestic Mammals

(2011) M. Pannetier et al.   Sexual Development

Disorders of Sexual Development and Abnormal Early Development in Domestic Food-Producing Mammals: The Role of Chromosome Abnormalities, Environment and Stress Factors

(2011) L.A. Favetta et al.   Sexual Development

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

(2011) V.N. Meyers-Wallen   Sexual Development

Design and Generation of MLPA Probe Sets for Combined Copy Number and Small-Mutation Analysis of Human Genes: EGFR as an Example

(2011) Malgorzata Marcinkowska et al.   TheScientificWorldJOURNAL

New cytogenetically visible copy number variant in region 8q21.2

(2011) Marina Manvelyan et al.   Molecular Cytogenetics

Tools of the trade: diagnostics and research in domestic animal cytogenetics

(2010) Leopoldo Iannuzzi et al.   JOURNAL OF APPLIED GENETICS

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

(2010) Hasmik Mkrtchyan et al.   PLoS One

The genomic architecture of segmental duplications and associated copy number variants in dogs

(2009) T. J. Nicholas et al.   GENOME RESEARCH

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

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

Mapping DNA structural variation in dogs

(2008) W.-K. Chen et al.   GENOME RESEARCH