메뉴 건너뛰기




Volumn 30, Issue 10, 2003, Pages 973-977

Genetic Analysis of a Chinese Pedigree with Congenital Synpolydactyly

Author keywords

Linkage analysis; phenotype; Syndactyly; Synpolydactyly (SPD)

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CHROMOSOME 2Q; CLINICAL FEATURE; CONGENITAL SYNPOLYDACTYLY; FINGER MALFORMATION; GENETIC LINKAGE; HAND HETEROPLASIA; HAPLOTYPE; HOX GENE; HOXD13 GENE; HUMAN; PEDIGREE ANALYSIS; PHENOTYPE; POLYDACTYLY;

EID: 0242299163     PISSN: 03794172     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (18)
  • 3
    • 0029127807 scopus 로고
    • Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
    • Sarfarazi M, Akarsu A N, Sayli B S. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Hum Molec Genet, 1995, 4:1453-1458.
    • (1995) Hum Molec Genet , vol.4 , pp. 1453-1458
    • Sarfarazi, M.1    Akarsu, A.N.2    Sayli, B.S.3
  • 5
    • 0030035153 scopus 로고    scopus 로고
    • Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families
    • Akarsu A N, Stoilov I, Yilmaz E, Sayli B S, Sarfarazi M. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet, 1996, 5:945-952.
    • (1996) Hum Mol Genet , vol.5 , pp. 945-952
    • Akarsu, A.N.1    Stoilov, I.2    Yilmaz, E.3    Sayli, B.S.4    Sarfarazi, M.5
  • 6
    • 0034935075 scopus 로고    scopus 로고
    • Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
    • Bo Gao, Jingzhi Guo, Chaowen She, Anli Shu, Maosheng Yang, Zheng Tan, Xinping Yang, Shengzhen Guo, Guoying Feng, Lin He. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nature Genet, 2001, 28:386-388.
    • (2001) Nature Genet , vol.28 , pp. 386-388
    • Gao, B.1    Guo, J.2    She, C.3    Shu, A.4    Yang, M.5    Tan, Z.6    Yang, X.7    Guo, S.8    Feng, G.9    He, L.10
  • 7
    • 0033912596 scopus 로고    scopus 로고
    • A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36
    • Xinping Yang, Chaowen She, Jingzhi Guo, Albert CH Yu, Yingjin Lu, XiaoLiu Shi, Guoying Feng, Lin He. A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36. Am J Hum Genet, 2000, 66: 892-903.
    • (2000) Am J Hum Genet , vol.66 , pp. 892-903
    • Yang, X.1    She, C.2    Guo, J.3    Yu, A.C.H.4    Lu, Y.5    Shi, X.6    Feng, G.7    He, L.8
  • 8
    • 84969046555 scopus 로고
    • Einige Eigentuemlichkeiten der erblichen Poly-und Syndaktylie bei Menschen
    • Thomsen O. Einige Eigentuemlichkeiten der erblichen Poly-und Syndaktylie bei Menschen. Acta Med Scand, 1927, 65:609-644.
    • (1927) Acta Med Scand , vol.65 , pp. 609-644
    • Thomsen, O.1
  • 9
    • 0010696310 scopus 로고
    • Zygodactyly and associated variations in a Utah family
    • Alvord R M. Zygodactyly and associated variations in a Utah family. J Hered, 1947, 38:49-53.
    • (1947) J Hered , vol.38 , pp. 49-53
    • Alvord, R.M.1
  • 10
    • 0242369068 scopus 로고
    • Two new pedigrees of zygodactyly. Variation of expression of polydactyly
    • Pipkin S B, Pipkin A C. Two new pedigrees of zygodactyly. Variation of expression of polydactyly. J Hered, 1946, 37:93-96.
    • (1946) J Hered , vol.37 , pp. 93-96
    • Pipkin, S.B.1    Pipkin, A.C.2
  • 11
    • 0028900933 scopus 로고
    • Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: Report on a family with eight affected members in four generations
    • Camera G, Camera A, Pozzolo S, Costa M, Mantero R. Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations. Am J Med Genet, 1995, 55:244-246.
    • (1995) Am J Med Genet , vol.55 , pp. 244-246
    • Camera, G.1    Camera, A.2    Pozzolo, S.3    Costa, M.4    Mantero, R.5
  • 12
    • 0029073125 scopus 로고
    • A large Turkish kindred with syndactyly type II (synpolydactyly): 1 field investigation, clinical and pedigree data
    • Sayli B S, Akarsu A N, Sayli U, Akhan O, Ceylaner S, Sarfarazi M. A large Turkish kindred with syndactyly type II (synpolydactyly): 1 field investigation, clinical and pedigree data. J Med Genet, 1995,32: 421-434.
    • (1995) J Med Genet , vol.32 , pp. 421-434
    • Sayli, B.S.1    Akarsu, A.N.2    Sayli, U.3    Akhan, O.4    Ceylaner, S.5    Sarfarazi, M.6
  • 13
    • 0029003180 scopus 로고
    • A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?
    • Akarsu A N, Akhan O, Sayli B S, Sayli U, Baskaya G, Sarfarazi M.A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype? J Med Genet, 1995, 32:435-441.
    • (1995) J Med Genet , vol.32 , pp. 435-441
    • Akarsu, A.N.1    Akhan, O.2    Sayli, B.S.3    Sayli, U.4    Baskaya, G.5    Sarfarazi, M.6
  • 14
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y, Mundlos S, Upton J, Olsen B R. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science, 1996, 272:548-551.
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 16
  • 17
    • 0037079049 scopus 로고    scopus 로고
    • Serial deletion and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs
    • Marie Kmita, Nadine Fraudeau, Yann Herault, Denis Duboule. Serial deletion and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs. Nature, 2002, 420:145-150.
    • (2002) Nature , vol.420 , pp. 145-150
    • Kmita, M.1    Fraudeau, N.2    Herault, Y.3    Duboule, D.4
  • 18
    • 0036158262 scopus 로고    scopus 로고
    • A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
    • Goodman F R, Majewski F, Collins A L, Scambler P J. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am J Hum Genet, 2002, 70:547-555.
    • (2002) Am J Hum Genet , vol.70 , pp. 547-555
    • Goodman, F.R.1    Majewski, F.2    Collins, A.L.3    Scambler, P.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.