239 related articles for article (PubMed ID: 11748852)
1. Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Zhang YH; Huang BL; Anyane-Yeboa K; Carvalho JA; Clemons RD; Cole T; De Figueiredo BC; Lubinsky M; Metzger DL; Quadrelli R; Repaske DR; Reyno S; Seaver LH; Vaglio A; Van Vliet G; McCabe LL; McCabe ER; Phelan JK
Hum Mutat; 2001 Dec; 18(6):547. PubMed ID: 11748852
[TBL] [Abstract][Full Text] [Related]
2. Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK; McCabe ER
Hum Mutat; 2001 Dec; 18(6):472-87. PubMed ID: 11748841
[TBL] [Abstract][Full Text] [Related]
3. Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
Krone N; Riepe FG; Dörr HG; Morlot M; Rudorff KH; Drop SL; Weigel J; Pura M; Kreze A; Boronat M; de Luca F; Tiulpakov A; Partsch CJ; Peter M; Sippell WG
Hum Mutat; 2005 May; 25(5):502-3. PubMed ID: 15841486
[TBL] [Abstract][Full Text] [Related]
4. The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.
Burris TP; Guo W; McCabe ER
Recent Prog Horm Res; 1996; 51():241-59; discussion 259-60. PubMed ID: 8701082
[TBL] [Abstract][Full Text] [Related]
5. Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.
Abe S; Nakae J; Yasoshima K; Tajima T; Shinohara N; Murashita M; Satoh K; Koike A; Takahashi Y; Fujieda K
Am J Med Genet; 1999 May; 84(2):87-9. PubMed ID: 10323730
[TBL] [Abstract][Full Text] [Related]
6. X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
Lehmann SG; Lalli E; Sassone-Corsi P
Proc Natl Acad Sci U S A; 2002 Jun; 99(12):8225-30. PubMed ID: 12034880
[TBL] [Abstract][Full Text] [Related]
7. A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.
Calliari LE; Longui CA; Rocha MN; Faria CD; Kochi C; Melo MR; Melo MB; Monte O
Genet Mol Res; 2007 May; 6(2):277-83. PubMed ID: 17573657
[TBL] [Abstract][Full Text] [Related]
8. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
Reutens AT; Achermann JC; Ito M; Ito M; Gu WX; Habiby RL; Donohoue PA; Pang S; Hindmarsh PC; Jameson JL
J Clin Endocrinol Metab; 1999 Feb; 84(2):504-11. PubMed ID: 10022408
[TBL] [Abstract][Full Text] [Related]
9. Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Bassett JH; O'Halloran DJ; Williams GR; Beardwell CG; Shalet SM; Thakker RV
Clin Endocrinol (Oxf); 1999 Jan; 50(1):69-75. PubMed ID: 10341858
[TBL] [Abstract][Full Text] [Related]
10. DAX1 origin, function, and novel role.
Niakan KK; McCabe ER
Mol Genet Metab; 2005; 86(1-2):70-83. PubMed ID: 16146703
[TBL] [Abstract][Full Text] [Related]
11. Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia.
Nie M; Fu Y; Lu L; Mao J; Chen Z; Zhang K; Xia W; Xing X; Sun M; Lu Z
Hum Genet; 2009 Apr; 125(3):347. PubMed ID: 19320028
[No Abstract] [Full Text] [Related]
12. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.
Guo W; Mason JS; Stone CG; Morgan SA; Madu SI; Baldini A; Lindsay EA; Biesecker LG; Copeland KC; Horlick MN
JAMA; 1995 Jul; 274(4):324-30. PubMed ID: 7609262
[TBL] [Abstract][Full Text] [Related]
13. Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
Laissue P; Copelli S; Bergada I; Bergada C; Barrio G; Karaboga S; Wurtz JM; Fellous M; Lalli E; Veitia RA
Clin Endocrinol (Oxf); 2006 Nov; 65(5):681-6. PubMed ID: 17054473
[TBL] [Abstract][Full Text] [Related]
14. Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
Nakae J; Abe S; Tajima T; Shinohara N; Murashita M; Igarashi Y; Kusuda S; Suzuki J; Fujieda K
J Clin Endocrinol Metab; 1997 Nov; 82(11):3835-41. PubMed ID: 9360549
[TBL] [Abstract][Full Text] [Related]
15. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Wang J; Killinger DW; Hegele RA
J Investig Med; 1999 May; 47(5):232-5. PubMed ID: 10361383
[TBL] [Abstract][Full Text] [Related]
16. Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia.
Mantovani G; Mancini M; Gazzano G; Spada A; Colpi GM; Beck-Peccoz P; Persani L
Fertil Steril; 2005 Nov; 84(5):1542-4. PubMed ID: 16275267
[TBL] [Abstract][Full Text] [Related]
17. Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia.
Lam CW; Cheng AW; Poon WT; Yuen YP; Huen KF
Clin Chim Acta; 2006 Dec; 374(1-2):151-2. PubMed ID: 16698006
[No Abstract] [Full Text] [Related]
18. Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Guo W; Burris TP; Zhang YH; Huang BL; Mason J; Copeland KC; Kupfer SR; Pagon RA; McCabe ER
J Clin Endocrinol Metab; 1996 Jul; 81(7):2481-6. PubMed ID: 8675564
[TBL] [Abstract][Full Text] [Related]
19. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
Achermann JC; Ito M; Silverman BL; Habiby RL; Pang S; Rosler A; Jameson JL
J Clin Endocrinol Metab; 2001 Jul; 86(7):3171-5. PubMed ID: 11443184
[TBL] [Abstract][Full Text] [Related]
20. Gene symbol: NR0B1.
Ellison J
Hum Genet; 2007 Apr; 121(2):297. PubMed ID: 17598221
[No Abstract] [Full Text] [Related]
[Next] [New Search]