These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
178 related articles for article (PubMed ID: 34714774)
1. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. 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 Eur J Endocrinol; 2021 Dec; 186(1):65-72. PubMed ID: 34714774 [TBL] [Abstract][Full Text] [Related]
2. PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. Guran T; Yesil G; Turan S; Atay Z; Bozkurtlar E; Aghayev A; Gul S; Tinay I; Aru B; Arslan S; Koroglu MK; Ercan F; Demirel GY; Eren FS; Karademir B; Bereket A Eur J Endocrinol; 2019 May; 180(5):291-309. PubMed ID: 30893644 [TBL] [Abstract][Full Text] [Related]
3. Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. Altunoglu U; Börklü E; Shukla A; Escande-Beillard N; Ledig S; Azaklı H; Nayak SS; Eraslan S; Girisha KM; Kennerknecht I; Kayserili H Clin Genet; 2022 Feb; 101(2):221-232. PubMed ID: 34750818 [TBL] [Abstract][Full Text] [Related]
4. Case Report: Novel Compound Heterozygotic Variants in Zhang W; Mao J; Wang X; Sun B; Zhao Z; Zhang X; Nie M; Wu X Front Genet; 2022; 13():871328. PubMed ID: 35812758 [No Abstract] [Full Text] [Related]
5. [Pure gonadal dysgenesis XX and XY: observations in fifteen patients]. Marrakchi A; Belhaj L; Boussouf H; Chraibi A; Kadiri A Ann Endocrinol (Paris); 2005 Dec; 66(6):553-6. PubMed ID: 16357819 [TBL] [Abstract][Full Text] [Related]
6. Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. Ciaccio M; Costanzo M; Guercio G; De Dona V; Marino R; Ramirez PC; Galeano J; Warman DM; Berensztein E; Saraco N; Baquedano MS; Chaler E; Maceiras M; Lazzatti JM; Rivarola MA; Belgorosky A Horm Res Paediatr; 2012; 78(2):119-26. PubMed ID: 22907560 [TBL] [Abstract][Full Text] [Related]
7. Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum. Siklar Z; Berberoğlu M; Adiyaman P; Salih M; Tükün A; Cetinkaya E; Aycan Z; Evliyaoğlu O; Ergur AT; Oçal G Pediatr Endocrinol Rev; 2007 Mar; 4(3):210-7. PubMed ID: 17551482 [TBL] [Abstract][Full Text] [Related]
8. Management of phenotypic female patients with an XY karyotype. Portuondo JA; Neyro JL; Barral A; Gonzalez-Gorospe F; Benito JA J Reprod Med; 1986 Jul; 31(7):611-5. PubMed ID: 3091820 [TBL] [Abstract][Full Text] [Related]
9. Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review. Baldinotti F; Cavallaro T; Dati E; Baroncelli GI; Bertini V; Valetto A; Massart F; Fabrizi GM; Zanette G; Peroni D; Bertelloni S Horm Res Paediatr; 2018; 89(3):141-149. PubMed ID: 29471294 [TBL] [Abstract][Full Text] [Related]
10. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. McElreavey K; Jorgensen A; Eozenou C; Merel T; Bignon-Topalovic J; Tan DS; Houzelstein D; Buonocore F; Warr N; Kay RGG; Peycelon M; Siffroi JP; Mazen I; Achermann JC; Shcherbak Y; Leger J; Sallai A; Carel JC; Martinerie L; Le Ru R; Conway GS; Mignot B; Van Maldergem L; Bertalan R; Globa E; Brauner R; Jauch R; Nef S; Greenfield A; Bashamboo A Genet Med; 2020 Jan; 22(1):150-159. PubMed ID: 31337883 [TBL] [Abstract][Full Text] [Related]
11. Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis. Yu PH; Tsai MC; Chiang CT; Wang HY; Kuo PL Taiwan J Obstet Gynecol; 2022 Sep; 61(5):903-905. PubMed ID: 36088066 [TBL] [Abstract][Full Text] [Related]
13. The Evaluation of Cases with Y-Chromosome Gonadal Dysgenesis: Clinical Experience over 18 Years. Berberoğlu M; Şıklar Z; J Clin Res Pediatr Endocrinol; 2018 Mar; 10(1):30-37. PubMed ID: 28825592 [TBL] [Abstract][Full Text] [Related]
14. Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37. Zidoune H; Martinerie L; Tan DS; Askari M; Rezgoune D; Ladjouze A; Boukri A; Benelmadani Y; Sifi K; Abadi N; Satta D; Rastari M; Seresht-Ahmadi M; Bignon-Topalovic J; Mazen I; Leger J; Simon D; Brauner R; Totonchi M; Jauch R; Bashamboo A; McElreavey K Sex Dev; 2021; 15(4):244-252. PubMed ID: 34293745 [TBL] [Abstract][Full Text] [Related]
16. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Berkovitz GD; Fechner PY; Zacur HW; Rock JA; Snyder HM; Migeon CJ; Perlman EJ Medicine (Baltimore); 1991 Nov; 70(6):375-83. PubMed ID: 1956279 [TBL] [Abstract][Full Text] [Related]
17. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. Weinberg-Shukron A; Renbaum P; Kalifa R; Zeligson S; Ben-Neriah Z; Dreifuss A; Abu-Rayyan A; Maatuk N; Fardian N; Rekler D; Kanaan M; Samson AO; Levy-Lahad E; Gerlitz O; Zangen D J Clin Invest; 2015 Nov; 125(11):4295-304. PubMed ID: 26485283 [TBL] [Abstract][Full Text] [Related]
18. 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. Le Caignec C; Baron S; McElreavey K; Joubert M; Rival JM; Mechinaud F; David A Am J Med Genet A; 2003 Jan; 116A(1):37-43. PubMed ID: 12476449 [TBL] [Abstract][Full Text] [Related]
19. XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Zangen D; Kaufman Y; Zeligson S; Perlberg S; Fridman H; Kanaan M; Abdulhadi-Atwan M; Abu Libdeh A; Gussow A; Kisslov I; Carmel L; Renbaum P; Levy-Lahad E Am J Hum Genet; 2011 Oct; 89(4):572-9. PubMed ID: 21963259 [TBL] [Abstract][Full Text] [Related]
20. 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. Werner R; Merz H; Birnbaum W; Marshall L; Schröder T; Reiz B; Kavran JM; Bäumer T; Capetian P; Hiort O J Clin Endocrinol Metab; 2015 Jul; 100(7):E1022-9. PubMed ID: 25927242 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]