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4. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Walder RY; Shalev H; Brennan TM; Carmi R; Elbedour K; Scott DA; Hanauer A; Mark AL; Patil S; Stone EM; Sheffield VC Hum Mol Genet; 1997 Sep; 6(9):1491-7. PubMed ID: 9285786 [TBL] [Abstract][Full Text] [Related]
5. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Mandel H; Szargel R; Labay V; Elpeleg O; Saada A; Shalata A; Anbinder Y; Berkowitz D; Hartman C; Barak M; Eriksson S; Cohen N Nat Genet; 2001 Nov; 29(3):337-41. PubMed ID: 11687800 [TBL] [Abstract][Full Text] [Related]
6. Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism. Miric A; Levine MA J Clin Endocrinol Metab; 1992 Mar; 74(3):509-16. PubMed ID: 1740484 [TBL] [Abstract][Full Text] [Related]
7. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Pearce SH; Cheetham T; Imrie H; Vaidya B; Barnes ND; Bilous RW; Carr D; Meeran K; Shaw NJ; Smith CS; Toft AD; Williams G; Kendall-Taylor P Am J Hum Genet; 1998 Dec; 63(6):1675-84. PubMed ID: 9837820 [TBL] [Abstract][Full Text] [Related]
8. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Mansergh FC; Millington-Ward S; Kennan A; Kiang AS; Humphries M; Farrar GJ; Humphries P; Kenna PF Am J Hum Genet; 1999 Apr; 64(4):971-85. PubMed ID: 10090882 [TBL] [Abstract][Full Text] [Related]
9. Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. Whyte MP; Weldon VV J Pediatr; 1981 Oct; 99(4):608-11. PubMed ID: 7196945 [No Abstract] [Full Text] [Related]
10. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Parvari R; Hershkovitz E; Kanis A; Gorodischer R; Shalitin S; Sheffield VC; Carmi R Am J Hum Genet; 1998 Jul; 63(1):163-9. PubMed ID: 9634513 [TBL] [Abstract][Full Text] [Related]
11. Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. Tengan CH; Kiyomoto BH; Rocha MS; Tavares VL; Gabbai AA; Moraes CT J Clin Endocrinol Metab; 1998 Jan; 83(1):125-9. PubMed ID: 9435428 [TBL] [Abstract][Full Text] [Related]
12. Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Arbustini E; Fasani R; Morbini P; Diegoli M; Grasso M; Dal Bello B; Marangoni E; Banfi P; Banchieri N; Bellini O; Comi G; Narula J; Campana C; Gavazzi A; Danesino C; ViganĂ² M Heart; 1998 Dec; 80(6):548-58. PubMed ID: 10065021 [TBL] [Abstract][Full Text] [Related]
13. Lack of mutations of preproparathyroid hormone gene in three kindreds with familial isolated hypoparathyroidism. Yamamoto T; Yoshimasa Y; Koshiyama H; Sugiyama K; Okigaki M; Yamada T; Ishii H; Yagura T; Fujimoto K; Ohnishi T; Koh T; Hino M; Kurahachi H; Yoshimasa T; Nakao K Endocr J; 1997 Feb; 44(1):175-80. PubMed ID: 9152631 [TBL] [Abstract][Full Text] [Related]
14. Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism. Schmidtke J; Kruse K; Pape B; Sippell G J Med Genet; 1986 Jun; 23(3):217-9. PubMed ID: 3014148 [TBL] [Abstract][Full Text] [Related]
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19. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Jun AS; Brown MD; Wallace DC Proc Natl Acad Sci U S A; 1994 Jun; 91(13):6206-10. PubMed ID: 8016139 [TBL] [Abstract][Full Text] [Related]
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