Results 151 to 160 of about 12,853 (226)

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review. [PDF]

Pediatr Nephrol, 2022
Anderson E, Aldridge M, Turner R, Harraway J, McManus S, Stewart A, Borzi P, Trnka P, Burke J, Coman D.   +9 more
europepmc   +1 more source

An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report

, 2012
Tse‐Ya Yu, Huan-Sheng Lin, Pei‐Lung Chen, Tien‐Shang Huang   +3 more
openalex   +2 more sources

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci [PDF]

, 2010
Susanne Ledig, Olaf Hiort, Gerd Scherer, Michael J. Hoffmann, G. Wolff, Susanne Morlot, A. Kuechler, Peter Wieacker   +7 more
openalex   +1 more source

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

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant. [PDF]

Front Genet, 2022
Alhamoudi KM, Alghamdi B, Aljomaiah A, Alswailem M, Al-Hindi H, Alzahrani AS.   +5 more
europepmc   +1 more source

Gonadal dysgenesis with adenocarcinoma of the endometrium.An electron microscopic and steroid receptor analyses with a review of the literature [PDF]

, 1978
Kenneth S. McCarty, Thomas K. Barton, Charles H. Peete, William T. Creasman   +3 more
openalex   +1 more source

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing [PDF]

, 2020
Ahlee Kim, Katherine Abell, Jodie Johnson, Stephanie Cizek, Lesley Breech, Michelle M. Ernst, Robert J. Hopkin, Kimberly Kennedy, Jerzy Stanek, Andrew C. Strine, Meilan M. Rutter   +10 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

Testis‐Determining Factor and Gonadal Dysgenesis [PDF]

, 1997
Hiroki Shima, Tetsuro Kuraoka, Tomoko Hashimoto   +2 more
openalex   +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