메뉴 건너뛰기




Volumn 66, Issue 2, 1996, Pages 209-215

An autosomal dominant triphalangeal thumb: Polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36

Author keywords

autosomal dominant; chromosome 7q36; linkage analysis; preaxial polydactyly; triphalangeal thumb

Indexed keywords

ARTICLE; CHROMOSOME 7Q; FEMALE; GENE MAPPING; HUMAN; HUMAN CELL; LIMB DEVELOPMENT; MAJOR CLINICAL STUDY; MALE; MOLECULAR CLONING; POLAND SYNDROME; PRIORITY JOURNAL; THUMB MALFORMATION;

EID: 0030442475     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<209::AID-AJMG17>3.0.CO;2-X     Document Type: Article
Times cited : (25)

References (23)
  • 3
    • 0027169185 scopus 로고
    • Functional domains of the Drosophila engrailed protein
    • Han K, Manley JL (1993): Functional domains of the Drosophila engrailed protein. EMBO J 12:2723-2733.
    • (1993) EMBO J , vol.12 , pp. 2723-2733
    • Han, K.1    Manley, J.L.2
  • 6
    • 0023299591 scopus 로고
    • En-1 and En-2, two mouse genes with sequence homology to the drosophila engrailed gene: Expression during development
    • Joyner AL, Martin GR (1987): En-1 and En-2, two mouse genes with sequence homology to the drosophila engrailed gene: Expression during development. Gene Dev 1:29-38.
    • (1987) Gene Dev , vol.1 , pp. 29-38
    • Joyner, A.L.1    Martin, G.R.2
  • 7
    • 0019404024 scopus 로고
    • The role of morphogenetic cell death during abnormal limb-bud outgrowth in mice heterozygous for the dominant mutation hemimelia-extra toe (Hm)
    • Knudsen TB, Kochhar DM (1981): The role of morphogenetic cell death during abnormal limb-bud outgrowth in mice heterozygous for the dominant mutation hemimelia-extra toe (Hm). J Embryol Exp Morphol 65:289-307.
    • (1981) J Embryol Exp Morphol , vol.65 , pp. 289-307
    • Knudsen, T.B.1    Kochhar, D.M.2
  • 8
    • 0011923794 scopus 로고
    • Engrailed: A gene controlling compartment and segment in Drosophila
    • Kornberg T (1981): Engrailed: A gene controlling compartment and segment in Drosophila. Proc Natl Acad Sci USA 78:1095-1099.
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 1095-1099
    • Kornberg, T.1
  • 10
    • 0024615297 scopus 로고
    • Chromosomal localization of the human homeobox-containing Genes, En-1 and En-2
    • Logan C, Willard HF, Rommens JM, Joyner AL (1978): Chromosomal localization of the human homeobox-containing Genes, En-1 and En-2. Genomics 4:206-209.
    • (1978) Genomics , vol.4 , pp. 206-209
    • Logan, C.1    Willard, H.F.2    Rommens, J.M.3    Joyner, A.L.4
  • 11
    • 0025309846 scopus 로고
    • Mapping of the two mouse engrailed-like genes: Close linkage of En-1 to dominant hemimelia (Dh) on chromosome 1 and of En-2 to hemimelic extra-toes (Hx) on chromosome 5
    • Martin GR, Richman M, Reinsch S, Nadeau JH, Joyner A (1990): Mapping of the two mouse engrailed-like genes: Close linkage of En-1 to dominant hemimelia (Dh) on chromosome 1 and of En-2 to hemimelic extra-toes (Hx) on chromosome 5. Genomics 6:302-308.
    • (1990) Genomics , vol.6 , pp. 302-308
    • Martin, G.R.1    Richman, M.2    Reinsch, S.3    Nadeau, J.H.4    Joyner, A.5
  • 12
    • 84965084390 scopus 로고
    • A study of major congenital defects in Japanese infants
    • Neel JV (1958): A study of major congenital defects in Japanese infants. Am J Hum Genet 10:398-445.
    • (1958) Am J Hum Genet , vol.10 , pp. 398-445
    • Neel, J.V.1
  • 13
    • 0026774858 scopus 로고
    • A comprehensive genetic linkage map of the human genome
    • NIH/CEPH collaborative mapping group (1992): A comprehensive genetic linkage map of the human genome. Science 258:67-86.
    • (1992) Science , vol.258 , pp. 67-86
  • 14
    • 0344982364 scopus 로고
    • Clinical genetics in polydactylism
    • Ohkura K (1956): Clinical genetics in polydactylism. Jpn J Hum Genet 1:11-23.
    • (1956) Jpn J Hum Genet , vol.1 , pp. 11-23
    • Ohkura, K.1
  • 15
    • 0024654558 scopus 로고
    • Isolation and chromosomal localization of the human En-2 gene
    • Poole SJ, Law ML, Kao FT, Lau YF (1989): Isolation and chromosomal localization of the human En-2 gene. Genomics 4:225-231.
    • (1989) Genomics , vol.4 , pp. 225-231
    • Poole, S.J.1    Law, M.L.2    Kao, F.T.3    Lau, Y.F.4
  • 18
    • 0013656160 scopus 로고
    • The genetics of hand malformation
    • Temtamy S, McKusick VA (1978): The genetics of hand malformation. Birth Def OAS 14:3-128.
    • (1978) Birth Def OAS , vol.14 , pp. 3-128
    • Temtamy, S.1    McKusick, V.A.2
  • 19
    • 0029042877 scopus 로고
    • Report of the second international workshop on human chromosome 7 mapping
    • Tsui L-C, Donis-Keller H, Grzeschik K-H (1995): Report of the second international workshop on human chromosome 7 mapping. Cytogenet Cell Genet 71:2-21.
    • (1995) Cytogenet Cell Genet , vol.71 , pp. 2-21
    • Tsui, L.-C.1    Donis-Keller, H.2    Grzeschik, K.-H.3
  • 22
    • 0027831551 scopus 로고
    • Syndactylies and polydactylies: Embryological overview and suggested classification
    • Winter RM, Tickle C (1993): Syndactylies and polydactylies: Embryological overview and suggested classification. Eur J Hum Genet 1:96-104.
    • (1993) Eur J Hum Genet , vol.1 , pp. 96-104
    • Winter, R.M.1    Tickle, C.2
  • 23
    • 0014713256 scopus 로고
    • A genetic study of polydactyly in Utah
    • Woolf CM, Woolf RM (1970): A genetic study of polydactyly in Utah. Am J Hum Genet 22:75-78.
    • (1970) Am J Hum Genet , vol.22 , pp. 75-78
    • Woolf, C.M.1    Woolf, R.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.