46-XX-Disorders-of-Sex-Development

Search results for 46-XX-Disorders-of-Sex-Development

Found 62 articles. Showing from 1 to 10.

The Journal of clinical endocrinology and metabolism (2012-07-09)
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.

Fertility and sterility (2012-12-06)
CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development.

Hormone research in pædiatrics (2012-08-14)
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Fertility and sterility (2010-10-27)
46,XX/SRY-negative true hermaphrodite.

Fertility and sterility (2010-11-26)
Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.

Arquivos brasileiros de endocrinologia e metabologia (2012-07-31)
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.

Genetic testing and molecular biomarkers (2012-07-17)
A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (2012-08-09)
[Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].

Journal of the American Academy of Dermatology (2005-10-17)
Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome.

Journal of pediatric endocrinology & metabolism (2012-08-10)
Splenogonadal fusion and sex reversal.

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