| 1 | AHC, NR0B1
|
| A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
|
| García-Malpartida K, Gómez-Balaguer M, Solá-Izquierdo E, Fuentes-Pardilla MJ, Jover-Fernández A, Sanz-Ruiz I, Hernández-Mijares A.
|
| Endocrine 36(2):275-80. Epub 2009 Aug 12.
2009
|
| 2 | NR0B1, AHC
|
| An Amino-Terminal DAX1 (NROB1) Missense Mutation Associated with Isolated Mineralocorticoid Deficiency.
|
| Verrijn Stuart AA, Ozisik G, de Vroede MA, Giltay JC, Sinke RJ, Peterson TJ, Harris RM, Weiss J, Jameson JL.
|
| J Clin Endocrinol Metab 92(3):755-61. Epub 2006 Dec 12. 2007
|
| 3 | NR0B1, AHC
|
| DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
|
| Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P.
|
| Eur J Endocrinol 154(5):685-9. 2006
|
| 4 | NR0B1, AHC
|
| A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
|
| Balsamo A, Antelli A, Baldazzi L, Baronio F, Lazareva D, Cassio A, Cicognani A.
|
| Am J Med Genet A 135(3):292-6. 2005
|
| 5 | NR0B1, DSS, AHC
|
| DAX1 origin, function, and novel role.
|
| Niakan KK, McCabe ER.
|
| Mol Genet Metab 86(1-2):70-83. Review. 2005
|
| 6 | NR0B1, NR5A1, DSS, AHC
|
| Molecular mechanisms of DAX1 action.
|
| Iyer AK, McCabe ER.
|
| Mol Genet Metab 83(1-2):60-73. 2004
|
| 7 | AHC, NR0B1
|
| 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 86(7):3171-5. 2001
|
| 8 | NR0B1, NR5A1, DSS, AHC, NR5A1, SRA3
|
| Phenotypic spectrum of mutations in DAX-1 and SF-1.
|
| Achermann JC, Meeks JJ, Jameson JL.
|
| Mol Cell Endocrinol 185(1-2):17-25. Review. 2001
|
| 9 | AHC, NR0B2
|
| Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
|
| Reutens AT, et al.
|
| J Clin Endocrinol Metab 84(2):504-11. 1999
|
| 10 | AHC, NR0B1
|
| Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
|
| Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF Jr, Layman LC, Jameson JL.
|
| J Clin Endocrinol Metab 84(12):4497-500. 1999
|
| 11 | AHC, NR0B1
|
| Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.
|
| Caron P, Imbeaud S, Bennet A, Plantavid M, Camerino G, Rochiccioli P.
|
| J Clin Endocrinol Metab 84(10):3563-9. 1999
|
| 12 | AHC, NR0B2
|
| DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
|
| Zhang YH, et al.
|
| Am J Hum Genet 62 : 855-864. 1998
|
| 13 | AHC, NR0B2
|
| X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.
|
| Schwartz M, et al.
|
| Hum Genet 99 : 83-87. 1997
|
| 14 | AHC, DAX1, NR0B1, NR0B2, STAR
|
| DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis.
|
| Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P.
|
| Nature 390(6657):311-5. 1997
|
| 15 | AHC, NR0B2
|
| 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 82(11):3835-41. 1997
|
| 16 | AHC, NR0B2
|
| New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
|
| Yanase T, et al.
|
| J Clin Endocrinol Metab 81 : 530-535. 1996
|
| 17 | AHC, NR0B2, HHG
|
| Adrenal hypoplasia congenita with hypogonadotropic hypogonadism. Evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production.
|
| Habiby RL, et al.
|
| J Clin Invest 98 : 1055-1062. 1996
|
| 18 | AHC, NR0B2, HHG
|
| Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis.
|
| Guo W, et al.
|
| Biochem Mol Med 56 : 8-13. 1995
|
| 19 | AHC, DSS, MAGEB1, MAGEB2, NR0B2
|
| A family of rapidly evolving genes from the sex reversal critical regionin Xp21.
|
| Dabovic B, et al.
|
| Mamm Genome 6 : 571-580. 1995
|
| 20 | NR0B2, DSS, AHC
|
| An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
|
| Zanaria E, et al.
|
| Nature 372 : 635-641. 1994
|
| 21 | NR0B2, AHC, HHG
|
| Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
|
| Muscatelli F, et al.
|
| Nature 372 : 672-676. 1994
|
| 22 | GK, AHC, GKD, DELXP21
|
| Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.
|
| Worley KC, et al.
|
| Genomics 16 : 407-416. 1993
|
| 23 | AHC, GK, GKD
|
| A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
|
| Walker AP, et al.
|
| Hum Mol Genet 1 : 579-585. 1992
|
| 24 | AHC, DMD
|
| Characterization of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
|
| Stuhrmann M, Heilbronner H, Reis A, Wegner RD, Fischer P, Schmidtke J.
|
| Hum Genet 86 : 414-415. 1991
|
| 25 | AHC
|
| Deletion of the adrenal hypoplasia congenita (AHC) locus and three adjacent distal loci causes mental retardation, microcephaly and short stature in addition to adrenal insufficiency.
|
| Bartley JA, et al.
|
| Am J Hum Genet 45 : A172. 1989
|
| 26 | AHC
|
| Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
|
| McCabe ERB, et al.
|
| J Clin Invest 83 : 95-99. 1989
|
| 27 | AHC, GK
|
| Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
|
| Davies KE, et al.
|
| Am J Med Genet 29 : 557-564. 1988
|
| 28 | AHC, DMD, DXS239, DXS272, GK
|
| A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
|
| Burmeister M, Monaco AP, Gillard EF, van Ommen GJ, Affara NA, Ferguson-Smith MA, Kunkel LM, Lehrach H.
|
| Genomics 2 : 189-202. 1988
|
| 29 | GK, AHC
|
| A deletion of Xp21 maps congenital adrenal hypoplasia distal to glycerol kinase deficiency.
|
| Yates JRW, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 723. 1987
|
| 30 | GK, AHC
|
| Deletion in Xp associated with glycerol kinase deficiency, adrenal aplasia and hypogonadotropic hypogonadism.
|
| Goonewardena P, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 621. 1987
|
| 31 | AHC, GK
|
| Mapping of glycerol kinase (GK) and congenital adrenal hypoplasia (AHC) between J66-H1 (in DMD locus) and L1 (DXS68).
|
| Chelly J, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 592. 1987
|
| 32 | AHC, DELXP21, GK, GKD
|
| Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
|
| Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlsch�tter A, Seltzer WK, Saito F, Goto J, Harpey JP, et al.
|
| Am J Hum Genet 40(3):212-27. 1987
|
| 33 | AHC
|
| Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with an Xp21 interstitial deletion.
|
| Bartley JA, et al.
|
| J Pediatr 108 : 189-192. 1986
|
| 34 | AHC, GK
|
| X-linked glycerol kinase, adrenal hypoplasia and myopathy maps at Xp21.
|
| Patil SR, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 720-721. 1985
|
| 35 | AHC, GK
|
| Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes.
|
| Hammond J, et al.
|
| Lancet I : 54. 1985
|