Results 101 to 110 of about 5,457 (170)

Patatin-Like Phospholipase Domain-Containing Protein 8 Mutation Associated with Gonadal Dysgenesis, Cerebellar Ataxia, and Peripheral Neuropathy in an Indian Family. [PDF]

Ann Indian Acad Neurol
Saluja A, Anees S, Ghotekar LH, Yadav V, Haque A, Sharma MC.   +5 more
europepmc   +1 more source

Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation. [PDF]

Proc (Bayl Univ Med Cent), 2021
Fine S, Ford K, Trotter B, Le HK, Crisp M, Santiago J, Birkemeier K.   +6 more
europepmc   +1 more source

Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome.

Sex Dev, 2023
Yang H, Ma X, Tian H, Yuan J, Wu D, Dong G, Liu Q, Fu J.   +7 more
europepmc   +1 more source

Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis. [PDF]

Reprod Biol Endocrinol
Ding L, Deng S, Zhang P, Zhang D, Tian Q.   +4 more
europepmc   +1 more source

Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype. [PDF]

Clin Case Rep
Monolov N, Nurbekova U, Mamytova E, Unusov A, Osmonova M, Makambaeva M, Vityala Y, Tagaev T.   +7 more
europepmc   +1 more source

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya. [PDF]

Clin Case Rep
Omoaghe C.
europepmc   +1 more source

Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report. [PDF]

Exp Ther Med
Uyama T, Koh I, Komoshita T, Matsushima A, Ohara R, Nomura A, Enokizono Y, Sato Y, Nakamoto K, Morioka H, Oomori Y, Teraoka Y, Nosaka S, Tomono K, Sekine M, Yamazaki T, Mukai Y, Banno K, Kurahashi H, Kudo Y.   +19 more
europepmc   +1 more source

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.

J Clin Endocrinol Metab
Tadokoro-Cuccaro R, Hughes IA, Cools M, van de Vijver K, Bilharinho de Mendonça B, Domenice S, Loch Batista R, Thomazini Dallago R, Costa EF, Lisboa Gomes N, Maciel-Guerra AT, Guerra-Junior G, Gabriel Ribeiro de Andrade J, Lucas-Herald A, Bryce J, Hannema S, Juul A, Globa E, McElreavey K, Baronio F, Rey R, Lopez Dacal J, Darendeliler F, Poyrazoglu S, Kolesińska Z, Niedziela M, Claahsen-van der Grinten HL, van den Akker ELT, Herrmann G, Atapattu N, Jain V, Sharma R, Bettendorf M, Konrad D, Lenherr-Taube N, Holterhus PM, Fica S, Skae M, Russo G, Stancampiano MR, Gazdagh G, Davies JH, Mohamed Z, Seneviratne SN, Güran T, Güven A, Wasniewska M, Mladenov V, Verkauskas G, Markosyan R, Korbonits M, Hiort O, Frielitz-Wagner IV, Ahmed SF, Thankamony A.   +54 more
europepmc   +1 more source

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report. [PDF]

Medicine (Baltimore)
Yu T, Liu L.
europepmc   +1 more source

A rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis after receiving oocyte donation and overcoming multiple pregnancy complications. [PDF]

J Assist Reprod Genet
Luo Y, Liao X, Wen J, Wu W, Tang G, Zhu H, Jiang Y, Liang D, Li Z, Wu L.   +9 more
europepmc   +1 more source