scholarly journals Screening and familial characterization of copy-number variations inNR5A1in 46,XY disorders of sex development and premature ovarian failure

2013 ◽  
pp. n/a-n/a ◽  
Author(s):  
Steven M. Harrison ◽  
Ian M. Campbell ◽  
Melise Keays ◽  
Candace F. Granberg ◽  
Carlos Villanueva ◽  
...  
Keyword(s):  
Premature Ovarian Failure ◽  
Copy Number ◽  
Disorders Of Sex Development ◽  
Copy Number Variations ◽  
Ovarian Failure ◽  
Sex Development

High-resolution genome-wide array-CGH reveals copy number variations associated with premature ovarian failure

Placenta ◽  
2011 ◽  
Vol 32 ◽  
pp. S282
Author(s):  
Paola Scaruffi ◽  
Sara Stigliani ◽  
Annamaria Jane Nicoletti ◽  
Pier Luigi Venturini ◽  
Gian Paolo Tonini ◽  
...  
Keyword(s):  
High Resolution ◽  
Premature Ovarian Failure ◽  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variations ◽  
Ovarian Failure ◽  
Genome Wide

scholarly journals Integrated small copy number variations and epigenome maps of disorders of sex development

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Ina E Amarillo ◽  
Isabelle Nievera ◽  
Andrew Hagan ◽  
Vishwa Huchthagowder ◽  
Jennifer Heeley ◽  
...  
Keyword(s):  
Copy Number ◽  
Disorders Of Sex Development ◽  
Copy Number Variations ◽  
Sex Development

DNA Copy Number Variations in Patients with 46,XY Disorders of Sex Development

2014 ◽  
Vol 192 (6) ◽  
pp. 1801-1806 ◽  
Author(s):  
Steven M. Harrison ◽  
Candace F. Granberg ◽  
Melise Keays ◽  
Martinez Hill ◽  
Gwen M. Grimsby ◽  
...  
Keyword(s):  
Copy Number ◽  
Disorders Of Sex Development ◽  
Copy Number Variations ◽  
Dna Copy Number ◽  
Dna Copy Number Variations ◽  
Sex Development

scholarly journals Analysis of XX SRY-Negative Sex Reversal Dogs

Animals ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 1667 ◽  
Author(s):  
Sara Albarella ◽  
Lisa De Lorenzi ◽  
Elena Rossi ◽  
Francesco Prisco ◽  
Marita Georgia Riccardi ◽  
...  
Keyword(s):  
Copy Number ◽  
Promoter Region ◽  
Molecular Genetic ◽  
Disorders Of Sex Development ◽  
Sex Reversal ◽  
Copy Number Variations ◽  
Genomic Region ◽  
Chromosome 9 ◽  
Economic Losses ◽  
Sex Development

Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is to report the clinical, cytogenetic and molecular genetic findings of four XX SRY-negative DSD dog cases. All the subjects showed a female aspect and the presence of an enlarged clitoris with a penis bone. Morphopathological analyses performed in three of the four cases showed the presence of testes in two cases and ovotestis in another. Conventional and R-banded cytogenetic techniques were applied showing that no chromosome abnormalities were involved in these DSDs. CGH arrays show the presence of 11 copy number variations (CNVs), one of which is a duplication of 458 Kb comprising the genomic region between base 17,503,928 and base 17,962,221 of chromosome 9 (CanFam3 genome assembly). This CNV, confirmed also by qPCR, includes the promoter region of SOX9 gene and could explain the observed phenotype.

scholarly journals Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)

2010 ◽  
Vol 25 (8) ◽  
pp. 2139-2150 ◽  
Author(s):  
C. R. Quilter ◽  
A. C. Karcanias ◽  
M. R. Bagga ◽  
S. Duncan ◽  
A. Murray ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Dna Sequence ◽  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Copy Number ◽  
Genomic Dna ◽  
Ovarian Failure ◽  
Number Variation ◽  
Genomic Dna Sequence
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