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5. Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. Cole DE; Clarke LA; Riddell DC; Samson KA; Seltzer WK; Salisbury S Clin Chem; 1994 Nov; 40(11 Pt 1):2099-103. PubMed ID: 7955386 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Lindgren V; de Martinville B; Horwich AL; Rosenberg LE; Francke U Science; 1984 Nov; 226(4675):698-700. PubMed ID: 6494904 [TBL] [Abstract][Full Text] [Related]
8. Physical mapping distal to the DMD locus. Love DR; Bloomfield JF; Kenwrick SJ; Yates JR; Davies KE Genomics; 1990 Sep; 8(1):106-12. PubMed ID: 2081587 [TBL] [Abstract][Full Text] [Related]
10. Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature. Pizza A; Picillo E; Onore ME; Scutifero M; Passamano L; Nigro V; Politano L Acta Myol; 2023; 42(1):24-30. PubMed ID: 37091526 [TBL] [Abstract][Full Text] [Related]
11. DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21. Greenberg CR; Hamerton JL; Nigli M; Wrogemann K Am J Hum Genet; 1987 Aug; 41(2):128-37. PubMed ID: 3475976 [TBL] [Abstract][Full Text] [Related]
13. Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia. Marlhens F; Chelly J; Kaplan JC; Lefrancois D; Harpey JP; Dutrillaux B Hum Genet; 1987 Dec; 77(4):379-83. PubMed ID: 2891606 [TBL] [Abstract][Full Text] [Related]
14. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Worley KC; Ellison KA; Zhang YH; Wang DF; Mason J; Roth EJ; Adams V; Fogt DD; Zhu XM; Towbin JA Genomics; 1993 May; 16(2):407-16. PubMed ID: 8314578 [TBL] [Abstract][Full Text] [Related]
15. Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. van Ommen GJ; Bertelson C; Ginjaar HB; den Dunnen JT; Bakker E; Chelly J; Matton M; van Essen AJ; Bartley J; Kunkel LM Genomics; 1987 Dec; 1(4):329-36. PubMed ID: 2896627 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Worley KC; Towbin JA; Zhu XM; Barker DF; Ballabio A; Chamberlain J; Biesecker LG; Blethen SL; Brosnan P; Fox JE Genomics; 1992 Aug; 13(4):957-61. PubMed ID: 1505987 [TBL] [Abstract][Full Text] [Related]
19. Human X chromosome markers and Duchenne muscular dystrophy. Davies KE; Speer A; Herrmann F; Spiegler AW; McGlade S; Hofker MH; Briand P; Hanke R; Schwartz M; Steinbicker V Nucleic Acids Res; 1985 May; 13(10):3419-26. PubMed ID: 3859837 [TBL] [Abstract][Full Text] [Related]
20. Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum. Baranzini SE; del Rey G; Nigro N; Szijan I; Chamoles N; Cresto JC Am J Med Genet; 1997 Jun; 70(3):216-21. PubMed ID: 9188656 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]