291 related articles for article (PubMed ID: 22815844)
21. Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
Wang X; Xue M; Zhao M; He F; Li C; Li X
Gene; 2018 Apr; 651():143-151. PubMed ID: 29378242
[TBL] [Abstract][Full Text] [Related]
22. Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.
Chernin G; Vega-Warner V; Schoeb DS; Heeringa SF; Ovunc B; Saisawat P; Cleper R; Ozaltin F; Hildebrandt F;
Clin J Am Soc Nephrol; 2010 Sep; 5(9):1655-62. PubMed ID: 20595692
[TBL] [Abstract][Full Text] [Related]
23. XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene.
Barbosa AS; Ferraz-Costa TE; Semer M; Liberman B; Moreira-Filho CA
Hum Genet; 1995 Jan; 95(1):63-6. PubMed ID: 7814028
[TBL] [Abstract][Full Text] [Related]
24. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.
Demmer L; Primack W; Loik V; Brown R; Therville N; McElreavey K
J Am Soc Nephrol; 1999 Oct; 10(10):2215-8. PubMed ID: 10505699
[TBL] [Abstract][Full Text] [Related]
25. A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.
Fan W; Wang B; He S; Zhang T; Yin C; Chen Y; Zheng S; Zhang J; Li L
PLoS One; 2016; 11(12):e0168484. PubMed ID: 28030592
[TBL] [Abstract][Full Text] [Related]
26. SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.
Hersmus R; Stoop H; Turbitt E; Oosterhuis JW; Drop SL; Sinclair AH; White SJ; Looijenga LH
BMC Med Genet; 2012 Nov; 13():108. PubMed ID: 23157850
[TBL] [Abstract][Full Text] [Related]
27. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.
Denamur E; Bocquet N; Mougenot B; Da Silva F; Martinat L; Loirat C; Elion J; Bensman A; Ronco PM
J Am Soc Nephrol; 1999 Oct; 10(10):2219-23. PubMed ID: 10505700
[TBL] [Abstract][Full Text] [Related]
28. A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.
Ambulkar PS; Waghmare JE; Verma Shivkumar P; Narang P; Pal AK
Andrologia; 2021 Jun; 53(5):e14011. PubMed ID: 33570214
[TBL] [Abstract][Full Text] [Related]
29. Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis.
Xue M; Wang X; Li C; Zhao M; He F; Li X
Gene; 2019 Nov; 718():144072. PubMed ID: 31446095
[TBL] [Abstract][Full Text] [Related]
30. [Progress in the molecular genetic mechanism of gonadoblastoma].
Yu LL; Dong WR; Chen MH; Kong XY
Yi Chuan; 2015 Nov; 37(11):1105-15. PubMed ID: 26582524
[TBL] [Abstract][Full Text] [Related]
31. Recurrence of a dysgerminoma in Frasier syndrome.
Mestrallet G; Bertholet-Thomas A; Ranchin B; Bouvier R; Frappaz D; Cochat P
Pediatr Transplant; 2011 May; 15(3):e53-5. PubMed ID: 20408995
[TBL] [Abstract][Full Text] [Related]
32. Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.
Köhler B; Biebermann H; Friedsam V; Gellermann J; Maier RF; Pohl M; Wieacker P; Hiort O; Grüters A; Krude H
J Clin Endocrinol Metab; 2011 Jul; 96(7):E1131-6. PubMed ID: 21508141
[TBL] [Abstract][Full Text] [Related]
33. WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.
Kanemoto K; Ishikura K; Ariyasu D; Hamasaki Y; Hataya H; Hasegawa Y; Ikeda M
Pediatr Nephrol; 2007 Mar; 22(3):454-8. PubMed ID: 17061122
[TBL] [Abstract][Full Text] [Related]
34. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
Benko S; Gordon CT; Mallet D; Sreenivasan R; Thauvin-Robinet C; Brendehaug A; Thomas S; Bruland O; David M; Nicolino M; Labalme A; Sanlaville D; Callier P; Malan V; Huet F; Molven A; Dijoud F; Munnich A; Faivre L; Amiel J; Harley V; Houge G; Morel Y; Lyonnet S
J Med Genet; 2011 Dec; 48(12):825-30. PubMed ID: 22051515
[TBL] [Abstract][Full Text] [Related]
35. Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
Tajouri A; Ben Gaied D; Hizem S; Boujelben S; Maazoul F; M'rad R; Poulat F; Kharrat M
Sex Dev; 2017; 11(4):203-209. PubMed ID: 28787711
[TBL] [Abstract][Full Text] [Related]
36. A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.
Raveendran SK; Ramachandran L; Joseph L; Asokan AK; Raj S; George A; James J
Andrologia; 2019 Oct; 51(9):e13377. PubMed ID: 31361042
[TBL] [Abstract][Full Text] [Related]
37. Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.
Pérez de Nanclares G; Castaño L; Bilbao JR; Vallo A; Rica I; Vela A; Martul P
J Pediatr Endocrinol Metab; 2002; 15(7):1047-50. PubMed ID: 12199335
[TBL] [Abstract][Full Text] [Related]
38. A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis.
Tajima T; Nakae J; Shinohara N; Fujieda K
Hum Mol Genet; 1994 Jul; 3(7):1187-9. PubMed ID: 7981695
[No Abstract] [Full Text] [Related]
39. A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.
Shahid M; Dhillon VS; Khalil HS; Haque S; Batra S; Husain SA; Looijenga LH
BMC Med Genet; 2010 Sep; 11():131. PubMed ID: 20849656
[TBL] [Abstract][Full Text] [Related]
40. Gene symbol: SRY.
Heine-Suñer D; Torres-Juan L; Gómez C; Pérez-Granero A; Bernues M; Govea N; Roseli J
Hum Genet; 2007 Feb; 120(6):909. PubMed ID: 17438599
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
