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Volumn 63, Issue 1, 1998, Pages 163-169

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

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1Q; CLINICAL ARTICLE; CONSANGUINITY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC MARKER; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; HYPOPARATHYROIDISM; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL;

EID: 0032231752     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301915     Document Type: Article
Times cited : (53)

References (41)
  • 1
    • 85031595408 scopus 로고    scopus 로고
    • for a map of human chromosome 1
    • Chromosome 1 Home Page, http://linkage.rockefeller.edu/ chr1/data/genmap/chr1-154.GIF (for a map of human chromosome 1)
  • 2
    • 85031595377 scopus 로고    scopus 로고
    • for STRPs
    • Cooperative Human Linkage Center, http://www.chlc.org (for STRPs)
  • 3
    • 85031589695 scopus 로고    scopus 로고
    • for cDNAs in 1q42-43
    • National Center for Biotechnology Information Human Gene Map, http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/ msrch2 (for cDNAs in 1q42-43)
  • 4
    • 85031595920 scopus 로고    scopus 로고
    • for autosomal recessive hypoparathyroidism [MIM 241410]
    • Online Mendelian inheritance in man (OMIM), http:// www.ncbi.nlm.nih.gov/Omim (for autosomal recessive hypoparathyroidism [MIM 241410])
  • 5
    • 85031579339 scopus 로고    scopus 로고
    • for a mouse region syntenic to 1q43, http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-homology2.pl?1+q+42-43; and for gene or phenotype in the mouse, http://www.hgmp.mrc.ac.uk/dhmhd-bin/mous-id-look2.pl?13+A1-A2
    • U.K. Human Genome Mapping Project Resource Center, http://www.hgmp.mrc.ac.uk (for a mouse region syntenic to 1q43, http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-homology2.pl?1+q+42-43; and for gene or phenotype in the mouse, http://www.hgmp.mrc.ac.uk/dhmhd-bin/mous-id-look2.pl?13+A1-A2)
  • 7
    • 0022326119 scopus 로고
    • Hypocalcemia from deficiency of and resistance to parathyroid hormone
    • Alon U, Chan JCM (1985) Hypocalcemia from deficiency of and resistance to parathyroid hormone. Adv Pediatr 32: 439-468
    • (1985) Adv Pediatr , vol.32 , pp. 439-468
    • Alon, U.1    Chan, J.C.M.2
  • 9
    • 0031193430 scopus 로고    scopus 로고
    • Localization of the Rab escort protein-2 and inositol 1,4,5-triphosphate 3-kinase genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44
    • Barrat FJ, Depetris D, Certain S, Mattei M-G, de Saint Basile G (1997) Localization of the Rab escort protein-2 and inositol 1,4,5-triphosphate 3-kinase genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44. Genomics 43: 111-113
    • (1997) Genomics , vol.43 , pp. 111-113
    • Barrat, F.J.1    Depetris, D.2    Certain, S.3    Mattei, M.-G.4    De Saint Basile, G.5
  • 16
    • 0022456215 scopus 로고
    • Kenny syndrome: Evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one
    • Fanconi S, Fischer JA, Wieland P, Atares M, Fanconi A, Giedion A, Prader A (1986) Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. J Pediatr 109:469-475
    • (1986) J Pediatr , vol.109 , pp. 469-475
    • Fanconi, S.1    Fischer, J.A.2    Wieland, P.3    Atares, M.4    Fanconi, A.5    Giedion, A.6    Prader, A.7
  • 18
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    • Finnish-German APECED Consortium, The (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17:399-403
    • (1997) Nat Genet , vol.17 , pp. 399-403
  • 20
    • 9244231284 scopus 로고    scopus 로고
    • Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains
    • Health H III, Odelberg S, Jackson CE, Teh BT, Hayward N, Larsson C, Buist NR, et al (1996) Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 81:1312-1317
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1312-1317
    • Health III, H.1    Odelberg, S.2    Jackson, C.E.3    Teh, B.T.4    Hayward, N.5    Larsson, C.6    Buist, N.R.7
  • 21
    • 0029007657 scopus 로고
    • The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation and psychomotor delay - A report of six patients
    • Hershkovitz E, Shalitin S, Levy J, Leiberman E, Weinshtock A, Varsano I, Gorodischer R (1995) The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation and psychomotor delay - a report of six patients. Isr J Med Sci 31:293-297
    • (1995) Isr J Med Sci , vol.31 , pp. 293-297
    • Hershkovitz, E.1    Shalitin, S.2    Levy, J.3    Leiberman, E.4    Weinshtock, A.5    Varsano, I.6    Gorodischer, R.7
  • 22
    • 0028940268 scopus 로고
    • 2+ sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
    • 2+ sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 56:880-886
    • (1995) Am J Hum Genet , vol.56 , pp. 880-886
    • Janicic, N.1    Pausova, Z.2    Cole, D.E.C.3    Hendy, G.N.4
  • 24
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA ot inbred children
    • Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA ot inbred children Science 236:1567-1570
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 27
    • 0029925102 scopus 로고    scopus 로고
    • A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
    • Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC (1996) A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 5:525-531
    • (1996) Hum Mol Genet , vol.5 , pp. 525-531
    • Nystuen, A.1    Benke, P.J.2    Merren, J.3    Stone, E.M.4    Sheffield, V.C.5
  • 28
    • 0026865130 scopus 로고
    • A donor splice site mutation in the PTH gene is associated with autosomal recessive hypoparathyroidism
    • Parkinson DB, Thakker RV (1992) A donor splice site mutation in the PTH gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1:149-152.
    • (1992) Nat Genet , vol.1 , pp. 149-152
    • Parkinson, D.B.1    Thakker, R.V.2
  • 29
    • 0028848215 scopus 로고
    • Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
    • Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB Heath DA, et al (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692
    • (1995) J Clin Invest , vol.96 , pp. 2683-2692
    • Pearce, S.H.1    Trump, D.2    Wooding, C.3    Besser, G.M.4    Chew, S.L.5    Grant, D.B.6    Heath, D.A.7
  • 30
  • 32
    • 0025114264 scopus 로고
    • Short stature mental retardation, and hypoparathyroidism: A new syndrome
    • Richardson RJ, Kirk JMW (1990) Short stature mental retardation, and hypoparathyroidism: a new syndrome. Arch Dis Child 65:1113-1117
    • (1990) Arch Dis Child , vol.65 , pp. 1113-1117
    • Richardson, R.J.1    Kirk, J.M.W.2
  • 33
    • 0025963366 scopus 로고
    • A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features
    • Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RDG (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 66:193-196
    • (1991) Arch Dis Child , vol.66 , pp. 193-196
    • Sanjad, S.A.1    Sakati, N.A.2    Abu-Osba, Y.K.3    Kaddoura, R.4    Milner, R.D.G.5
  • 35
    • 1642592637 scopus 로고    scopus 로고
    • Homozygosity mapping using pooled DNA
    • Dracopoli NC, Haines JH, Korf BR, Moir DT, Morton CC, Seidman CE, Smith DR (eds) John Wiley & Sons, New York
    • Sheffield VC (1997) Homozygosity mapping using pooled DNA In: Dracopoli NC, Haines JH, Korf BR, Moir DT, Morton CC, Seidman CE, Smith DR (eds) Current protocols in human genetics. John Wiley & Sons, New York, pp 1.11.1-1.11.21
    • (1997) Current Protocols in Human Genetics , pp. 1111-11121
    • Sheffield, V.C.1
  • 37
    • 0000655012 scopus 로고
    • The detection of linkage in human genetics
    • Smith C (1953) The detection of linkage in human genetics. J R Stat Soc Brit 15:135-184
    • (1953) J R Stat Soc Brit , vol.15 , pp. 135-184
    • Smith, C.1
  • 38
    • 0025332731 scopus 로고
    • Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
    • Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan LH (1990) Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J Clin Invest 86:40-45
    • (1990) J Clin Invest , vol.86 , pp. 40-45
    • Thakker, R.V.1    Davies, K.E.2    Whyte, M.P.3    Wooding, C.4    O'Riordan, L.H.5
  • 39
    • 0030922551 scopus 로고    scopus 로고
    • Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24
    • Wang C-Y, Hawkins-Lee B, Ochoa B, Walker DR, She J-X (1997) Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. Am J Hum Genet 60: 1461-1467
    • (1997) Am J Hum Genet , vol.60 , pp. 1461-1467
    • Wang, C.-Y.1    Hawkins-Lee, B.2    Ochoa, B.3    Walker, D.R.4    She, J.-X.5
  • 40
    • 0019868775 scopus 로고
    • Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred
    • Whyte MP, Weldon W (1981) Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J Pediatr 99: 608-611
    • (1981) J Pediatr , vol.99 , pp. 608-611
    • Whyte, M.P.1    Weldon, W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.