303 related articles for article (PubMed ID: 21672607)
1. Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
Jadhav U; Harris RM; Jameson JL
Mol Cell Endocrinol; 2011 Oct; 346(1-2):65-73. PubMed ID: 21672607
[TBL] [Abstract][Full Text] [Related]
2. Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers.
Bertalan R; Bencsik Z; Mezei P; Vajda Z; Butz H; Patócs A
Mol Biol Rep; 2019 Aug; 46(4):4599-4604. PubMed ID: 31280422
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic spectrum of mutations in DAX-1 and SF-1.
Achermann JC; Meeks JJ; Jameson JL
Mol Cell Endocrinol; 2001 Dec; 185(1-2):17-25. PubMed ID: 11738790
[TBL] [Abstract][Full Text] [Related]
4. Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.
Li N; Liu R; Zhang H; Yang J; Sun S; Zhang M; Liu Y; Lu Y; Wang W; Mu Y; Ning G; Li X
J Clin Endocrinol Metab; 2010 Sep; 95(9):E104-11. PubMed ID: 20573681
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in
Liu S; Yan L; Zhou X; Chen C; Wang D; Yuan G
J Int Med Res; 2020 Feb; 48(2):300060519882151. PubMed ID: 31642359
[TBL] [Abstract][Full Text] [Related]
7. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.
Habiby RL; Boepple P; Nachtigall L; Sluss PM; Crowley WF; Jameson JL
J Clin Invest; 1996 Aug; 98(4):1055-62. PubMed ID: 8770879
[TBL] [Abstract][Full Text] [Related]
8. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
Seminara SB; Achermann JC; Genel M; Jameson JL; Crowley WF
J Clin Endocrinol Metab; 1999 Dec; 84(12):4501-9. PubMed ID: 10599709
[TBL] [Abstract][Full Text] [Related]
9. Advances in the molecular genetics of hypogonadotropic hypogonadism.
Achermann JC; Jameson JL
J Pediatr Endocrinol Metab; 2001 Jan; 14(1):3-15. PubMed ID: 11220702
[TBL] [Abstract][Full Text] [Related]
10. X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.
Yu T; Wang J; Yu Y; Huang X; Fu Q; Shen Y; Chen F
Mol Med Rep; 2016 May; 13(5):4039-45. PubMed ID: 27035099
[TBL] [Abstract][Full Text] [Related]
11. A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Battistin C; Menezes Filho HC; Domenice S; Nishi MY; Della Manna T; Kuperman H; Steinmetz L; Dichtchekenian V; Setian N; Damiani D
Arq Bras Endocrinol Metabol; 2012 Nov; 56(8):496-500. PubMed ID: 23295288
[TBL] [Abstract][Full Text] [Related]
12. Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation - A Case Report and Review of the Literature: Implications for the Pathomechanism.
Nagel SA; Hartmann MF; Riepe FG; Wudy SA; Wabitsch M
Horm Res Paediatr; 2019; 91(5):336-345. PubMed ID: 30537713
[TBL] [Abstract][Full Text] [Related]
13. Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation.
Pitteloud N; Thambundit A; Dwyer AA; Falardeau JL; Plummer L; Caronia LM; Hayes FJ; Lee H; Boepple PA; Crowley WF
Neuroendocrinology; 2009; 90(3):260-8. PubMed ID: 19829004
[TBL] [Abstract][Full Text] [Related]
14. Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
Okuhara K; Abe S; Kondo T; Fujita K; Koda N; Mochizuki H; Fujieda K; Tajima T
Endocr J; 2008 Mar; 55(1):97-103. PubMed ID: 18202527
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
Tabarin A; Achermann JC; Recan D; Bex V; Bertagna X; Christin-Maitre S; Ito M; Jameson JL; Bouchard P
J Clin Invest; 2000 Feb; 105(3):321-8. PubMed ID: 10675358
[TBL] [Abstract][Full Text] [Related]
16. CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH.
Kang Y; Zheng B; Shen B; Chen Y; Wang L; Wang J; Niu Y; Cui Y; Zhou J; Wang H; Guo X; Hu B; Zhou Q; Sha J; Ji W; Huang X
Hum Mol Genet; 2015 Dec; 24(25):7255-64. PubMed ID: 26464492
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Qin G; Ji H; Li X; Ma X; Wang D
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):809-14. PubMed ID: 25968435
[TBL] [Abstract][Full Text] [Related]
18. The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis.
Ponikwicka-Tyszko D; Kotula-Balak M; Jarzabek K; Bilinska B; Wolczynski S
J Assist Reprod Genet; 2012 Aug; 29(8):811-6. PubMed ID: 22562240
[No Abstract] [Full Text] [Related]
19. Molecular mechanisms of DAX1 action.
Iyer AK; McCabe ER
Mol Genet Metab; 2004; 83(1-2):60-73. PubMed ID: 15464421
[TBL] [Abstract][Full Text] [Related]
20. Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Hamaguchi K; Arikawa M; Yasunaga S; Kakuma T; Fukagawa K; Yanase T; Nawata H; Sakata T
Am J Med Genet; 1998 Feb; 76(1):62-6. PubMed ID: 9508067
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]