Results 141 to 150 of about 110,162 (292)

A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia. [PDF]

Endocrinol Diabetes Metab Case Rep, 2022
Ambachew R, Gulilat A, Aberra T, Terefework Z, Bedilu W, Tarekegn G, Reja A.   +6 more
europepmc   +1 more source

AB0172 Turner syndrome and pure gonadal dysgenesis: a strong risk factor for osteopenia and osteoporosis [PDF]

, 2001
Cristina Laguna Benetti‐Pinto, AJ Bedone, Luís Alberto Magna, J. F. Marques-Neto   +3 more
openalex   +1 more source

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review. [PDF]

Front Genet, 2022
Zhang W, Mao J, Wang X, Sun B, Zhao Z, Zhang X, Nie M, Wu X.   +7 more
europepmc   +1 more source

A case of mixed gonadal dysgenesis(MGD)-with a review of MGD patients reported in Japan.

, 1989
Noriyoshi Yamakita, Keigo Yasuda, Hiroaki Mori, Manabu Kuriyama, Yoshiaki Kumamoto, Kiyoshi Miura   +5 more
openalex   +2 more sources

Mixed Gonadal Dysgenesis Mimicking True Hermaphroditism [PDF]

, 2007
Jae Duck Choi, Jong Ho Jeon, Jae Shin Park   +2 more
openalex   +1 more source

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

Sexual Development, 2018
Erkut Ilaslan, Pierre Calvel, Dominika Nowak, M. Szarras-Czapnik, J. Słowikowska-Hilczer, A. Spik, Pauline Sararols, S. Nef, J. Jaruzelska, Kamila Kusz-Zamelczyk   +9 more
semanticscholar   +1 more source

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. [PDF]

Eur J Endocrinol, 2021
Cicek D, Warr N, Yesil G, Kocak Eker H, Bas F, Poyrazoglu S, Darendeliler F, Direk G, Hatipoglu N, Eltan M, Yavas Abali Z, Gurpinar Tosun B, Kaygusuz SB, Seven Menevse T, Helvacioglu D, Turan S, Bereket A, Reeves R, Simon M, Mackenzie M, Teboul L, Greenfield A, Guran T.   +22 more
europepmc   +1 more source

Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study

Pediatric Blood & Cancer, 2018
B. Dicken, D. Billmire, M. Krailo, C. Xia, Furqan Shaikh, J. Cullen, T. Olson, F. Pashankar, M. Malogolowkin, J. Amatruda, F. Rescorla, R. Egler, J. Ross, C. Rodríguez-Galindo, A. L. Frazier   +14 more
semanticscholar   +1 more source

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis [PDF]

J Clin Res Pediatr Endocrinol, 2023
Rjiba K, Slimani W, Gaddas M, Hassine IH, Jelloul A, Khelifa HB, El Amri F, Zaouali M, Mcelreavey K, Saad A, Mougou-Zerelli S.   +10 more
europepmc   +1 more source

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing. [PDF]

Front Endocrinol (Lausanne)
Zhang N, You S, Guo J, Chang X, Qiu J, Hua K.   +5 more
europepmc   +1 more source