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4. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. Chelly J; Marlhens F; Dutrillaux B; Van Ommen GJ; Lambert M; Haioun B; Boissinot G; Fardeau M; Kaplan JC Hum Genet; 1988 Mar; 78(3):222-7. PubMed ID: 2894344 [TBL] [Abstract][Full Text] [Related]
5. Mental retardation locus in Xp21 chromosome microdeletion. Fries MH; Lebo RV; Schonberg SA; Golabi M; Seltzer WK; Gitelman SE; Golbus MS Am J Med Genet; 1993 Jun; 46(4):363-8. PubMed ID: 8357005 [TBL] [Abstract][Full Text] [Related]
6. Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus. Towbin JA; Wu DR; Chamberlain J; Larsen PD; Seltzer WK; McCabe ER Hum Genet; 1989 Sep; 83(2):122-6. PubMed ID: 2550352 [TBL] [Abstract][Full Text] [Related]
7. Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. Davies KE; Patterson MN; Kenwrick SJ; Bell MV; Sloan HR; Westman JA; Elsas LJ; Mahan J Am J Med Genet; 1988 Mar; 29(3):557-64. PubMed ID: 2837087 [TBL] [Abstract][Full Text] [Related]
8. Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. Dunger DB; Davies KE; Pembrey M; Lake B; Pearson P; Williams D; Whitfield A; Dillon MJ Lancet; 1986 Mar; 1(8481):585-7. PubMed ID: 2869305 [TBL] [Abstract][Full Text] [Related]
10. Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. Pillers DA; Weleber RG; Powell BR; Hanna CE; Magenis RE; Buist NR Am J Med Genet; 1990 May; 36(1):23-8. PubMed ID: 2159212 [TBL] [Abstract][Full Text] [Related]
11. Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. Matsumoto T; Kondoh T; Yoshimoto M; Fujieda K; Matsuura N; Matsuda I; Miike T; Yano K; Okuno A; Aoki Y Am J Med Genet; 1988 Nov; 31(3):603-16. PubMed ID: 2852474 [TBL] [Abstract][Full Text] [Related]
12. 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 ER; Towbin J; Chamberlain J; Baumbach L; Witkowski J; van Ommen GJ; Koenig M; Kunkel LM; Seltzer WK J Clin Invest; 1989 Jan; 83(1):95-9. PubMed ID: 2536049 [TBL] [Abstract][Full Text] [Related]
13. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. Clarke A; Roberts SH; Thomas NS; Whitfield A; Williams J; Harper PS J Med Genet; 1986 Dec; 23(6):501-8. PubMed ID: 3027343 [TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome. Børresen AL; Hellerud C; Møller P; Søvik O; Berg K Clin Genet; 1987 Oct; 32(4):254-9. PubMed ID: 2890456 [TBL] [Abstract][Full Text] [Related]
15. Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci. Goonewardena P; Dahl N; Ritzén M; van Ommen GJ; Pettersson U Clin Genet; 1989 Jan; 35(1):5-12. PubMed ID: 2564327 [TBL] [Abstract][Full Text] [Related]
16. Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. Darras BT; Francke U Am J Hum Genet; 1988 Aug; 43(2):126-30. PubMed ID: 2840818 [TBL] [Abstract][Full Text] [Related]
17. Isolated and contiguous glycerol kinase gene disorders: a review. Sjarif DR; Ploos van Amstel JK; Duran M; Beemer FA; Poll-The BT J Inherit Metab Dis; 2000 Sep; 23(6):529-47. PubMed ID: 11032329 [TBL] [Abstract][Full Text] [Related]
18. Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. McCabe ER; Towbin JA; van den Engh G; Trask BJ Am J Hum Genet; 1992 Dec; 51(6):1277-85. PubMed ID: 1463011 [TBL] [Abstract][Full Text] [Related]
19. Characterisation 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; 1991 Feb; 86(4):414-5. PubMed ID: 1999345 [TBL] [Abstract][Full Text] [Related]
20. A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report. Rathnasiri A; Senarathne U; Arunath V; Hoole T; Kumarasiri I; Muthukumarana O; Jasinge E; Mettananda S BMC Endocr Disord; 2021 Oct; 21(1):214. PubMed ID: 34689766 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]