256 related articles for article (PubMed ID: 27711951)
1. Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.
Chauhan V; Jyotsna VP; Jain V; Khadgawat R; Dada R
Horm Metab Res; 2017 Jan; 49(1):36-42. PubMed ID: 27711951
[TBL] [Abstract][Full Text] [Related]
2. Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Paliwal P; Sharma A; Birla S; Kriplani A; Khadgawat R; Sharma A
Mol Hum Reprod; 2011 Jun; 17(6):372-8. PubMed ID: 21242195
[TBL] [Abstract][Full Text] [Related]
3. Mutation analysis of the SRY, NR5A1, and DHH genes in six Chinese 46,XY women.
Liao X; Liang D; Li Y; Xi H; Quan Y; Wu L
J Matern Fetal Neonatal Med; 2011 Jun; 24(6):863-6. PubMed ID: 21366396
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.
Helszer Z; Dmochowska A; Szemraj J; Słowikowska-Hilczer J; Wieczorek M; Jędrzejczyk S; Kałużewski B
Gene; 2013 Sep; 526(2):467-70. PubMed ID: 23624391
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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.
Ledig S; Hiort O; Scherer G; Hoffmann M; Wolff G; Morlot S; Kuechler A; Wieacker P
Hum Reprod; 2010 Oct; 25(10):2637-46. PubMed ID: 20685758
[TBL] [Abstract][Full Text] [Related]
7. Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.
Hussain S; Amar A; Najeeb MN; Khaliq S
Andrologia; 2016 Jun; 48(5):509-17. PubMed ID: 26260161
[TBL] [Abstract][Full Text] [Related]
8. Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Mazen I; Abdel-Hamid M; Mekkawy M; Bignon-Topalovic J; Boudjenah R; El Gammal M; Essawi M; Bashamboo A; McElreavey K
Sex Dev; 2016; 10(3):147-51. PubMed ID: 27169744
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.
Canto P; Söderlund D; Reyes E; Méndez JP
J Clin Endocrinol Metab; 2004 Sep; 89(9):4480-3. PubMed ID: 15356051
[TBL] [Abstract][Full Text] [Related]
10. Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B; Achermann JC
Minerva Endocrinol; 2010 Jun; 35(2):73-86. PubMed ID: 20595937
[TBL] [Abstract][Full Text] [Related]
11. Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.
Das DK; Sanghavi D; Gawde H; Idicula-Thomas S; Vasudevan L
Eur J Med Genet; 2011; 54(6):e529-34. PubMed ID: 21816240
[TBL] [Abstract][Full Text] [Related]
12. Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Rehkämper J; Tewes AC; Horvath J; Scherer G; Wieacker P; Ledig S
Sex Dev; 2017; 11(5-6):248-253. PubMed ID: 29190620
[TBL] [Abstract][Full Text] [Related]
13. Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
Tantawy S; Mazen I; Soliman H; Anwar G; Atef A; El-Gammal M; El-Kotoury A; Mekkawy M; Torky A; Rudolf A; Schrumpf P; Grüters A; Krude H; Dumargne MC; Astudillo R; Bashamboo A; Biebermann H; Köhler B
Eur J Endocrinol; 2014 May; 170(5):759-67. PubMed ID: 24591553
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.
Tagliarini EB; Assumpção JG; Scolfaro MR; Mello MP; Maciel-Guerra AT; Guerra Júnior G; Hackel C
Braz J Med Biol Res; 2005 Jan; 38(1):17-25. PubMed ID: 15665984
[TBL] [Abstract][Full Text] [Related]
16. [XY type gonadal dysgenesis, trisomy X and variants].
Kikuchi I; Takeuchi H; Kinoshita K
Nihon Rinsho; 2004 Feb; 62(2):309-12. PubMed ID: 14968537
[TBL] [Abstract][Full Text] [Related]
17. A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.
Filges I; Kunz C; Miny P; Boesch N; Szinnai G; Wenzel F; Tschudin S; Zumsteg U; Heinimann K
Fertil Steril; 2011 Oct; 96(4):851-5. PubMed ID: 21868002
[TBL] [Abstract][Full Text] [Related]
18. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L; Philibert P; Ferraz-de-Souza B; Kelberman D; Homfray T; Albanese A; Molini V; Sebire NJ; Einaudi S; Conway GS; Hughes IA; Jameson JL; Sultan C; Dattani MT; Achermann JC
J Clin Endocrinol Metab; 2007 Mar; 92(3):991-9. PubMed ID: 17200175
[TBL] [Abstract][Full Text] [Related]
19. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Köhler B; Lin L; Ferraz-de-Souza B; Wieacker P; Heidemann P; Schröder V; Biebermann H; Schnabel D; Grüters A; Achermann JC
Hum Mutat; 2008 Jan; 29(1):59-64. PubMed ID: 17694559
[TBL] [Abstract][Full Text] [Related]
20. 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Neocleous V; Fanis P; Cinarli F; Kokotsis V; Oulas A; Toumba M; Spyrou GM; Phylactou LA; Skordis N
Hormones (Athens); 2019 Sep; 18(3):315-320. PubMed ID: 31240586
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
