메뉴 건너뛰기




Volumn 33, Issue 10, 1996, Pages 873-876

Isolated autosomal dominant type E brachydactyly: Exclusion of linkage to candidate regions 2q37 and 20q13

Author keywords

Albright hereditary osteodystrophy; Brachydactyly type E; Gs gene

Indexed keywords

ALBRIGHT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; CHROMOSOME 20Q; CHROMOSOME 2Q; CLINICAL ARTICLE; FEMALE; FINGER MALFORMATION; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; METACARPAL BONE; METATARSAL BONE; PRIORITY JOURNAL;

EID: 0029954184     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.10.873     Document Type: Article
Times cited : (7)

References (12)
  • 2
    • 0028813978 scopus 로고
    • Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localised to 2q37
    • Wilson LC, Leverton K, Oude Luttikhuis MEM, et al. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localised to 2q37. Am J Hum Genet 1995;56:-100-7.
    • (1995) Am J Hum Genet , vol.56 , pp. 100-107
    • Wilson, L.C.1    Leverton, K.2    Oude Luttikhuis, M.E.M.3
  • 4
    • 0028151754 scopus 로고
    • Characterization of a de novo 43-bp deletion of the Gs gene (GNAS1) in Albright hereditary osteodystrophy
    • Oude Luttikhuis MEM, Wilson LC, Leonard JV, Trembath RC. Characterization of a de novo 43-bp deletion of the Gs gene (GNAS1) in Albright hereditary osteodystrophy. Genomics 1994;21:455-7.
    • (1994) Genomics , vol.21 , pp. 455-457
    • Oude Luttikhuis, M.E.M.1    Wilson, L.C.2    Leonard, J.V.3    Trembath, R.C.4
  • 5
    • 0028850141 scopus 로고
    • A deletion hot-spot in exon 7 of the Gsα gene (GNAS1) in patients with Albright hereditary osteodystrophy
    • Yu S, Yu D, Hainline BE, et al. A deletion hot-spot in exon 7 of the Gsα gene (GNAS1) in patients with Albright hereditary osteodystrophy. Hum Mol Genet 1995;4:2001-2.
    • (1995) Hum Mol Genet , vol.4 , pp. 2001-2002
    • Yu, S.1    Yu, D.2    Hainline, B.E.3
  • 6
    • 0345726301 scopus 로고
    • Familial brachydactyly
    • Brailsford JF. Familial brachydactyly. Br J Radiol 1945;XVIII:167-72.
    • (1945) Br J Radiol , vol.18 , pp. 167-172
    • Brailsford, J.F.1
  • 7
    • 0025971854 scopus 로고
    • Genetic mapping of the Gsα subunit gene (GNAS 1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis
    • Gejman PV, Weinstein LS, Martinez M. Genetic mapping of the Gsα subunit gene (GNAS 1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis. Genomics 1991;9:782-3.
    • (1991) Genomics , vol.9 , pp. 782-783
    • Gejman, P.V.1    Weinstein, L.S.2    Martinez, M.3
  • 8
    • 0025882910 scopus 로고
    • Dinucleotide repeat polymorphism in Gs-alpha subunit gene (GNAS1) on chromosome 20
    • Granqvist M, Xiang K, Seino M, Bell GI. Dinucleotide repeat polymorphism in Gs-alpha subunit gene (GNAS1) on chromosome 20. Nucleic Acids Res 1992;19:4569.
    • (1992) Nucleic Acids Res , vol.19 , pp. 4569
    • Granqvist, M.1    Xiang, K.2    Seino, M.3    Bell, G.I.4
  • 9
    • 0027189637 scopus 로고
    • Polymorphic SSR (simple-sequence-repeat) markers for chromosome 20
    • Melis R, Bradley P, Elsner T, et al. Polymorphic SSR (simple-sequence-repeat) markers for chromosome 20 Genomics 1993;16:56-62.
    • (1993) Genomics , vol.16 , pp. 56-62
    • Melis, R.1    Bradley, P.2    Elsner, T.3
  • 11
    • 0028231090 scopus 로고
    • The 1993-94 Genethon human genetic linkage map
    • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994;7:246-339.
    • (1994) Nat Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.