Results 151 to 160 of about 50,074,769 (205)

Novel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients. [PDF]

Medicine (Baltimore)
Peng X, Zu J, Wang S, Hu Q.
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Influence of X-Chromosome Inactivation in Pathogenesis of Turner Syndrome. [PDF]

Epigenomes
Grigore AM, Caba L, Iacob VT, Antoci LM, Pânzaru MC, Butnariu LI, Gorduza EV.   +6 more
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Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review. [PDF]

BMC Pediatr
Sadeghi A, Rezaei R, Razavi Z, Salehi AM, Dehghan A.   +4 more
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A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y). [PDF]

Clin Exp Reprod Med
Maghsoomi Z, Abiri M, Golgiri F, Iraji H, Ghahestani SM, Tajikrostami F, Emtiazi N, Eghbali M.   +7 more
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Familial <i>WT1</i>-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. [PDF]

World J Nephrol
Khandelwal MH, Piparva KG, Parchwani D.
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Serum androgen profile of elite athletes.

J Clin Endocrinol Metab
Handelsman DJ, Bermon S.
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Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Sex Dev
Lima-Santos J, Nascimento-Vidoti CG, Correia-Costa GR, Campos NLV, Guaragna MS, de Oliveira FM, Barros BA, Miranda ML, Antolini Tavares A, Guerra-Junior G, Maciel-Guerra AT, Fabbri-Scallet H, Vieira TP.   +12 more
europepmc   +1 more source

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Pure 46,XY gonadal dysgenesis

Orvosi Hetilap, 2010
A szerzők 46,XY tiszta gonáddiszgenezis (Swyer-szindróma) esetük kórtörténetét mutatják be. A Swyer-szindróma jellemzői a 46,XY karyotypus, primer amenorrhoea, női belső nemi szervek, kétoldali csíkgonád és a női fenotípus. A szindróma számos jól ismert gén mutációjával áll összefüggésben, amelyek szerepet játszanak a heredifferenciálódás kaszkádjában.
László, Ságodi, Erzsébet, Ladányi, Ákos, Kiss, Attila, Tar, Valéria, Lukács, Károly, Minik, Ildikó, Vámosi   +6 more
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Ovarian development in 46,XY gonadal dysgenesis

Human Genetics, 1982
In humans the XY ovary is degenerative, there being scant evidence of persistence of that organ beyond the perinatal period. Here we describe indications of functional ovarian tissue in a 17-year-old female with male karyotype, H-Y+ cellular phenotype, and some signs of the Turner syndrome.
M H, Russell, S S, Wachtel, B W, Davis, L T, Cahill, E, Groos, G D, Niblack, I M, Burr   +6 more
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Abnormal streak gonads in 46,XY complete gonadal dysgenesis

Fertility and Sterility, 2011
To describe the surgical findings in two adolescents with 46,XY complete gonadal dysgenesis.Report of two cases.University teaching hospital.Two adolescents with 46,XY complete gonadal dysgenesis who underwent laparoscopic bilateral gonadectomy.Laparoscopic bilateral gonadectomy.Removal of dysgenetic gonads.One benign fibrothecoma and one ...
Leo F, Doherty, Beth W, Rackow
openaire   +2 more sources