journal article Open Access Jan 01, 1999

Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBHOk), to Chromosome 19q13

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References
33
[1]
Ashworth "An integrated metric physical map of human chromosome 19" Nat Genet (1995) 10.1038/ng1295-422
[2]
Bachs "Calmodulin and calmodulin-binding proteins in the nucleus" Cell Calcium (1994) 10.1016/0143-4160(94)90092-2
[3]
Bai J Clin Invest (1997) 10.1172/jci119137
[4]
Berchtold "Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3" Genomics (1993) 10.1006/geno.1993.1211
[5]
Birnbaumer "Mutations and diseases of G protein coupled receptors" J Recept Signal Transduct Res (1995) 10.3109/10799899509045213
[6]
Brown "Mutations in the calcium-sensing receptor and their clinical implications" Horm Res (1997) 10.1159/000185516
[7]
Chou "The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families" Nat Genet (1992) 10.1038/ng0792-295
[8]
Crivici "Molecular and structural basis of target recognition by calmodulin" Annu Rev Biophys Biomol Struct (1995) 10.1146/annurev.bb.24.060195.000505
[9]
Durocher "Genetic linkage mapping of the dehydroepiandrosterone sulfotransferase (STD) gene on the chromosome 19q13.3 region" Genomics (1995) 10.1006/geno.1995.9935
[10]
European Consortium on MEN1 "The Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)" Hum Genet (1997) 10.1007/s004390050569
[11]
Gnegy "Calmodulin: effects of cell stimuli and drugs on cellular activation" Prog Drug Res (1995)
[12]
The 1993–94 Généthon human genetic linkage map

Gabor Gyapay, Jean Morissette, Alain Vignal et al.

Nature Genetics 1994 10.1038/ng0694supp-246
[13]
Heath "Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity" Am J Hum Genet (1993)
[14]
Hebert "Role of the Ca2+-sensing receptor in divalent mineral ion homeostasis" J Exp Biol (1997) 10.1242/jeb.200.2.295
[15]
Herrada "A novel family of putative pheromone receptors in mammals with a topographically organized and sexually dimorphic distribution" Cell (1997) 10.1016/s0092-8674(00)80536-x
[16]
Hinson "Identification of putative transmembrane receptor sequences homologous to the calcium-sensing G-protein coupled receptor" Genomics (1997) 10.1006/geno.1997.4943
[17]
Kahn "Calmodulin regulates L-selectin adhesion molecule expression and function through a protease-dependent mechanism" Cell (1998) 10.1016/s0092-8674(00)81408-7
[18]
Koller "Structural organization of the human CaMIII calmodulin gene" Biochim Biophys Acta (1990) 10.1016/0167-4781(90)90203-e
[19]
Lloyd "A common molecular basis for three inherited kidney stone diseases" Nature (1996) 10.1038/379445a0
[20]
Matsunami "A multigene family encoding a diverse array of putative pheromone receptors in mammals" Cell (1997) 10.1016/s0092-8674(00)80537-1
[21]
McKusick "Hypocalciuric hypercalcemia, familial" (1998)
[22]
McMurtry "Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia" Am J Med (1992) 10.1016/0002-9343(92)90229-5
[23]
Naito "Putative pheromone receptors related to the Ca2+-sensing receptor in Fugu" Proc Natl Acad Sci USA (1998) 10.1073/pnas.95.9.5178
[24]
Pearce "Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism" J Clin Invest (1995) 10.1172/jci118335
[25]
Pearce "Calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia with recurrent pancreatitis" Clin Endocrinol (Oxf) (1996) 10.1046/j.1365-2265.1996.750891.x
[26]
Pearce "Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells" J Clin Invest (1996) 10.1172/jci118987
[27]
Pearce "A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor" N Engl J Med (1996) 10.1056/nejm199610103351505
[28]
Pollak "Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism" Cell (1993) 10.1016/0092-8674(93)90617-y
[29]
Pollak "Autosomal dominant hypocalcemia caused by a Ca(2+)-sensing receptor gene mutation" Nat Genet (1994) 10.1038/ng1194-303
[30]
Reed "Chromosome-specific microsatellite sets for fluorescence-based, semiautomated genome mapping" Nat Genet (1994) 10.1038/ng0794-390
[31]
Rhyner "Structure of the human CALM1 calmodulin gene and identification of two CALM1-related pseudogenes CALM1P1 and CALM2P2" Eur J Biochem (1994) 10.1111/j.1432-1033.1994.00071.x
[32]
Thakker "Mapping of the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies" J Clin Invest (1990) 10.1172/jci114712
[33]
Trump "Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH" Hum Genet (1995) 10.1007/bf00207376
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Clinical Endocrinology
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Published
Jan 01, 1999
Vol/Issue
64(1)
Pages
189-195
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Cite This Article
Sarah E. Lloyd, Anna A.J. Pannett, Peter H. Dixon, et al. (1999). Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBHOk), to Chromosome 19q13. The American Journal of Human Genetics, 64(1), 189-195. https://doi.org/10.1086/302202
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