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147 related items for PubMed ID: 10204842
1. Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11. Muroya K, Kinoshita E, Kamimaki T, Matsuo N, Yorifugi T, Ogata T. J Med Genet; 1999 Mar; 36(3):187-91. PubMed ID: 10204842 [Abstract] [Full Text] [Related]
2. Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns. Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T. Am J Med Genet; 2000 Apr 10; 91(4):267-72. PubMed ID: 10766981 [Abstract] [Full Text] [Related]
3. Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2. Bar-David S, Lerer I, Sarfaty CK, Kohan ZG, Meiner V, Zlotogora J, Abeliovich D. Am J Med Genet; 1996 Jul 12; 64(1):83-8. PubMed ID: 8826456 [Abstract] [Full Text] [Related]
7. 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 12; 82(11):3835-41. PubMed ID: 9360549 [Abstract] [Full Text] [Related]
9. A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation. Loke KY, Poh LK, Lee WW, Lai PS. Horm Res; 2009 Nov 12; 71(5):298-304. PubMed ID: 19339795 [Abstract] [Full Text] [Related]
10. Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Choi JH, Shin YL, Kim GH, Kim Y, Park S, Park JY, Oh C, Yoo HW. Horm Res; 2005 Nov 12; 63(4):200-5. PubMed ID: 15860922 [Abstract] [Full Text] [Related]
11. [From gene to disease; congenital adrenal hypoplasia and the DAX-1 gene]. Verrijn Stuart AA, de Vroede MA, Giltay JC. Ned Tijdschr Geneeskd; 2005 May 21; 149(21):1156-8. PubMed ID: 15940919 [Abstract] [Full Text] [Related]
12. Pericentromeric genes for non-specific X-linked mental retardation (MRX). Gedeon A, Kerr B, Mulley J, Turner G. Am J Med Genet; 1994 Jul 15; 51(4):553-64. PubMed ID: 7943039 [Abstract] [Full Text] [Related]
13. Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K. J Clin Endocrinol Metab; 1996 Oct 15; 81(10):3680-5. PubMed ID: 8855822 [Abstract] [Full Text] [Related]
14. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene. Goto M, Katsumata N. Horm Res; 2009 Oct 15; 71(2):120-4. PubMed ID: 19129717 [Abstract] [Full Text] [Related]
15. Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene. Wheeler B, George PM, Mackenzie K, Hunt P, Potter HC, Florkowski CM. Ann Clin Biochem; 2008 Nov 15; 45(Pt 6):606-9. PubMed ID: 18941128 [Abstract] [Full Text] [Related]
16. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Yanase T, Takayanagi R, Oba K, Nishi Y, Ohe K, Nawata H. J Clin Endocrinol Metab; 1996 Feb 15; 81(2):530-5. PubMed ID: 8636263 [Abstract] [Full Text] [Related]
17. 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 15; 18(6):547. PubMed ID: 11748852 [Abstract] [Full Text] [Related]
18. X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1. Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C. Am J Med Genet; 1996 Jul 12; 64(1):97-106. PubMed ID: 8826458 [Abstract] [Full Text] [Related]
19. Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). Schutz CK, Ives EJ, Chalifoux M, MacLaren L, Farrell S, Robinson PD, White BN, Holden JJ. Am J Med Genet; 1996 Jul 12; 64(1):89-96. PubMed ID: 8826457 [Abstract] [Full Text] [Related]
20. 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 12; 47(5):232-5. PubMed ID: 10361383 [Abstract] [Full Text] [Related] Page: [Next] [New Search]