| 1 | GKD, GK
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| Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
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| Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER.
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| Hum Mutat 28(3):235-42. 2007
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| 2 | GK, GKD
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| Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
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| Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM.
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| Pediatr Res 59(4 Pt 1):590-2. 2006
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| 3 | GK
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| Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.
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| Ohira RH, Dipple KM, Zhang YH, McCabe ER.
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| Biochem Biophys Res Commun 331(1):239-46. 2005
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| 4 | GK
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| Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation.
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| Stepanian SV, Huyn ST, McCabe ER, Dipple KM.
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| Mol Genet Metab 80(4):412-8. 2003
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| 5 | GK, GKD
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| Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
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| Sargent CA, Kidd A, Moore S, Dean J, Besley GT, Affara NA.
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| J Med Genet 37(6):434-41. 2000
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| 6 | GK, GKD
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| Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
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| Sjarif DR, et al.
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| J Med Genet 35 : 650-656. 1998
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| 7 | GKD, GK
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| Mutations and phenotype in isolated glycerol kinase deficiency.
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| Walker AP, et al.
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| Am J Hum Genet 58 : 1205-1211. 1996
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| 8 | GK, GK7P, GK2, GK3P, GK4P, GKD
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| The glycerol kinase gene family : structure of the Xp gene, and related intronless retroposons.
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| Sargent CA, et al.
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| Hum Mol Genet 3 : 1317-1324. 1994
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| 9 | GK, AHC, GKD, DELXP21
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| Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.
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| Worley KC, et al.
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| Genomics 16 : 407-416. 1993
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| 10 | GK, GKD
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| Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.
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| Guo W, et al.
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| Nat Genet 4 : 367-372. 1993
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| 11 | GK, GKD
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| Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.
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| Sargent CA, et al.
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| Hum Mol Genet 2 : 97-106. 1993
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| 12 | GK
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| Isolation of the human Xp21 glycerol kinase gene by positional cloning.
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| Walker AP, et al.
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| Hum Mol Genet 2 : 107-114. 1993
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| 13 | DELXP21, GK, GKD
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| Mental retardation locus in Xp21 chromosome microdeletion.
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| Fries MH, Lebo RV, Schonberg SA, Golabi M, Seltzer WK, Gitelman SE, Golbus MS.
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| Am J Med Genet 46(4):363-8. 1993
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| 14 | AHC, GK, GKD
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| A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
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| Walker AP, et al.
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| Hum Mol Genet 1 : 579-585. 1992
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| 15 | AHC, GK
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| Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.
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| Davies KE, et al.
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| Am J Med Genet 29 : 557-564. 1988
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| 16 | AHC, DMD, DXS239, DXS272, GK
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| A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
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| Burmeister M, Monaco AP, Gillard EF, van Ommen GJ, Affara NA, Ferguson-Smith MA, Kunkel LM, Lehrach H.
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| Genomics 2 : 189-202. 1988
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| 17 | GK, DMD
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| Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
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| Darras BT, et al.
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| Am J Hum Genet 43 : 126-130. 1988
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| 18 | GK
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| Regional mapping of GK gene by cytogenetic and DNA studies of five patients with infantile glycerol kinase deficiency.
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| Matsumoto T, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 656. 1987
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| 19 | GK, AHC
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| A deletion of Xp21 maps congenital adrenal hypoplasia distal to glycerol kinase deficiency.
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| Yates JRW, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 723. 1987
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| 20 | GK, AHC
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| Deletion in Xp associated with glycerol kinase deficiency, adrenal aplasia and hypogonadotropic hypogonadism.
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| Goonewardena P, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 621. 1987
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| 21 | AHC, GK
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| Mapping of glycerol kinase (GK) and congenital adrenal hypoplasia (AHC) between J66-H1 (in DMD locus) and L1 (DXS68).
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| Chelly J, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 592. 1987
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| 22 | AHC, DELXP21, GK, GKD
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| Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
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| Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlsch�tter A, Seltzer WK, Saito F, Goto J, Harpey JP, et al.
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| Am J Hum Genet 40(3):212-27. 1987
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| 23 | GK
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| Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.
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| Saito F, et al.
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| Clin Genet 29 : 92-93. 1986
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| 24 | GK
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| 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.
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| Dunger DB, et al.
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| Lancet I : 585-587. 1986
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| 25 | AHC, GK
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| X-linked glycerol kinase, adrenal hypoplasia and myopathy maps at Xp21.
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| Patil SR, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 720-721. 1985
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| 26 | AHC, GK
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| Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes.
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| Hammond J, et al.
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| Lancet I : 54. 1985
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