Gonadal Dysgenesis, 46,XX

Known as: Gonadal Dysgenesis, 46, XX, Gonadal Dysgenesis, 46,XX [Disease/Finding], 46,XX Ovarian Dysgenesis 
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus… (More)
National Institutes of Health

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Highly Cited
2012
Highly Cited
2012
Three sex-determining (SD) genes, SRY (mammals), Dmy (medaka), and DM-W (Xenopus laevis), have been identified to date in… (More)
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Highly Cited
2011
Highly Cited
2011
Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a… (More)
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2010
2010
Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be… (More)
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Highly Cited
2008
Highly Cited
2008
Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early… (More)
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Highly Cited
2007
Highly Cited
2007
CONTEXT Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in… (More)
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Highly Cited
2006
Highly Cited
2006
Despite the identification of SRY as the testis-determining gene in mammals, the genetic interactions controlling the earliest… (More)
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2004
2004
Targeted disruption of the orphan nuclear receptor SF1 results in the absence of adrenals and gonads, establishing that this… (More)
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Highly Cited
2000
Highly Cited
2000
We describe a patient with 46,XY partial gonadal dysgenesis (PGD) who presented with polyneuropathy. Sural nerve pathology… (More)
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Highly Cited
1999
Highly Cited
1999
Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea and apnea, developmental delay, and… (More)
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1994
1994
In a nationwide population-based study of women born between 1950 and 1976, 75 patients with XX gonadal dysgenesis (XXGD) were… (More)
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