메뉴 건너뛰기




Volumn 81, Issue 3-4, 1998, Pages 229-234

Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER;

EID: 0031666281     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000015036     Document Type: Article
Times cited : (10)

References (26)
  • 1
    • 0030035153 scopus 로고    scopus 로고
    • Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families
    • Akarsu NA, Stoilov I, Yilmaze E, Sayli BS, Sarfarazi M: Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum molec Genet 5:945-952 (1996).
    • (1996) Hum Molec Genet , vol.5 , pp. 945-952
    • Akarsu, N.A.1    Stoilov, I.2    Yilmaze, E.3    Sayli, B.S.4    Sarfarazi, M.5
  • 2
    • 0025368589 scopus 로고
    • Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents
    • Albertsen HM, Abderrahim H, Cann HM, Dausset JL, L Paslier D, Cohen D: Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc natl Acad Sci, USA 87:4256-4260 (1990).
    • (1990) Proc Natl Acad Sci, USA , vol.87 , pp. 4256-4260
    • Albertsen, H.M.1    Abderrahim, H.2    Cann, H.M.3    Dausset, J.L.4    Lrawat Paslier, D.5    Cohen, D.6
  • 3
    • 0031030297 scopus 로고    scopus 로고
    • Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family
    • Bähring S, Nagai T, Toka HR, Nitz I, Toka O, Aydin A, Muhl A, Wienker TF, Schuster H, Luft FC: Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J hum Genet 60:732-735 (1997).
    • (1997) Am J Hum Genet , vol.60 , pp. 732-735
    • Bähring, S.1    Nagai, T.2    Toka, H.R.3    Nitz, I.4    Toka, O.5    Aydin, A.6    Muhl, A.7    Wienker, T.F.8    Schuster, H.9    Luft, F.C.10
  • 4
    • 0014186092 scopus 로고
    • Totale Syndactylie und totale radioulnare Synostose bei zwei Brudern
    • Cenani A, Lenz W: Totale Syndactylie und totale radioulnare Synostose bei zwei Brudern. Z Kinderheilk 101:181-190 (1967).
    • (1967) Z Kinderheilk , vol.101 , pp. 181-190
    • Cenani, A.1    Lenz, W.2
  • 6
    • 0029901276 scopus 로고    scopus 로고
    • Cenani-Lenz syndrome in father and daughter
    • De Smet L, Debeer P, Fryns JP: Cenani-Lenz syndrome in father and daughter. Genet Counsel 2:153-157 (1996).
    • (1996) Genet Counsel , vol.2 , pp. 153-157
    • De Smet, L.1    Debeer, P.2    Fryns, J.P.3
  • 7
    • 0026660287 scopus 로고
    • Cenani-Lenz type of syndactyly: A complex type of syndactyly associated with multiple synostoses
    • De Smet L, Winnepenninckx B, Fryns JP, Fabry G: Cenani-Lenz type of syndactyly: a complex type of syndactyly associated with multiple synostoses. Genet Counsel 3:145-147 (1992).
    • (1992) Genet Counsel , vol.3 , pp. 145-147
    • De Smet, L.1    Winnepenninckx, B.2    Fryns, J.P.3    Fabry, G.4
  • 8
    • 0031851734 scopus 로고    scopus 로고
    • Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3′/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members
    • in press
    • Debeer P, Schoenmakers EFPM, De Smet L, Van De Ven WJM, Fryns JP: Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3′/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members. Clin Dysmorph (1998, in press).
    • (1998) Clin Dysmorph
    • Debeer, P.1    Schoenmakers, E.F.P.M.2    De Smet, L.3    Van De Ven, W.J.M.4    Fryns, J.P.5
  • 9
    • 0018644417 scopus 로고
    • Oligodactyly and multiple synostoses of the extremities: Two cases in sibs
    • Dodinval P: Oligodactyly and multiple synostoses of the extremities: two cases in sibs. Hum Genet 48:183-189 (1979).
    • (1979) Hum Genet , vol.48 , pp. 183-189
    • Dodinval, P.1
  • 10
    • 0017214445 scopus 로고
    • Totale Syndactylie mit mesomeler Armverkürzung, radioulnare und metacarpalen Synostosen und Disorganisation der Phalangen (Cenani-Lenz)
    • Drohm D, Lenz W, Yang T: Totale Syndactylie mit mesomeler Armverkürzung, radioulnare und metacarpalen Synostosen und Disorganisation der Phalangen (Cenani-Lenz). Klin Paediat 188:359-365 (1976).
    • (1976) Klin Paediat , vol.188 , pp. 359-365
    • Drohm, D.1    Lenz, W.2    Yang, T.3
  • 11
    • 85081422838 scopus 로고    scopus 로고
    • Oral presentation
    • Heidelberg, Germany, 22-24 March
    • Dunham I: Oral presentation. Human Gene Mapping '96, Heidelberg, Germany, 22-24 March (1996).
    • (1996) Human Gene Mapping '96
    • Dunham, I.1
  • 15
    • 0026725180 scopus 로고
    • Fluorescence in situ hybridization of YAC clones after Alu-PCR
    • Lengauer C, Green ED, Cremer T: Fluorescence in situ hybridization of YAC clones after Alu-PCR. Genomics 13:826-828 (1992).
    • (1992) Genomics , vol.13 , pp. 826-828
    • Lengauer, C.1    Green, E.D.2    Cremer, T.3
  • 17
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y, Mundlos S, Upton J, Olsen BR: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551 (1996).
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 18
    • 0028919146 scopus 로고
    • Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome
    • Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y: Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J med Genet 55:16-18 (1995).
    • (1995) Am J Med Genet , vol.55 , pp. 16-18
    • Nagai, T.1    Nishimura, G.2    Kato, R.3    Hasegawa, T.4    Ohashi, H.5    Fukushima, Y.6
  • 20
    • 0020078323 scopus 로고
    • Present nosology of the Cenani-Lenz type of syndactyly
    • Pfeiffer R, Meisel-Stosiek M: Present nosology of the Cenani-Lenz type of syndactyly. Clin Genet 21:74-79 (1982).
    • (1982) Clin Genet , vol.21 , pp. 74-79
    • Pfeiffer, R.1    Meisel-Stosiek, M.2
  • 24
    • 0030049543 scopus 로고    scopus 로고
    • Detection of a familial cryptic translocation by fluorescent in situ hybridisation
    • Smith DP, Floyd M, Say B: Detection of a familial cryptic translocation by fluorescent in situ hybridisation. J med Genet 33:84 (1996).
    • (1996) J Med Genet , vol.33 , pp. 84
    • Smith, D.P.1    Floyd, M.2    Say, B.3
  • 25
    • 0013656160 scopus 로고
    • The genetics of hand malformations
    • The National Foundation March of Dimes/Alan R Liss Inc, New York
    • Temtamy S, McKusick VK: The genetics of hand malformations. Birth Defects: Original Article Series, Vol 14, No 3, pp 301-361 (The National Foundation March of Dimes/Alan R Liss Inc, New York 1978).
    • (1978) Birth Defects: Original Article Series , vol.14 , Issue.3 , pp. 301-361
    • Temtamy, S.1    McKusick, V.K.2
  • 26
    • 0031202066 scopus 로고    scopus 로고
    • Silent mutation induces skipping of fibrillin-1 gene in Marfan syndrome
    • Wanguo L, Chiping Q, Uta F: Silent mutation induces skipping of fibrillin-1 gene in Marfan syndrome. Nature Genet 16:328-329 (1997).
    • (1997) Nature Genet , vol.16 , pp. 328-329
    • Wanguo, L.1    Chiping, Q.2    Uta, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.