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Volumn 128 A, Issue 2, 2004, Pages 214-216

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy [3]

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 4444305202     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20552     Document Type: Letter
Times cited : (30)

References (18)
  • 1
    • 0034706403 scopus 로고    scopus 로고
    • Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting
    • Abuelo DN, Ahsanuddin AN, Mark HF. 2000. Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting. Am J Med Genet 94:392-399.
    • (2000) Am J Med Genet , vol.94 , pp. 392-399
    • Abuelo, D.N.1    Ahsanuddin, A.N.2    Mark, H.F.3
  • 2
    • 0027402372 scopus 로고
    • Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
    • Brown S, Gersen S, Anyane YK, Warburton D. 1993. Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59.
    • (1993) Am J Med Genet , vol.45 , pp. 52-59
    • Brown, S.1    Gersen, S.2    Anyane, Y.K.3    Warburton, D.4
  • 3
    • 0018355826 scopus 로고
    • Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter): A new clinically recognizable syndrome
    • Curry CJ, Loughman WD, Francke U, Hall BD, Golbus MS, Derstine J, Epstein CJ. 1979. Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter): A new clinically recognizable syndrome. Clin Genet 15:454-461.
    • (1979) Clin Genet , vol.15 , pp. 454-461
    • Curry, C.J.1    Loughman, W.D.2    Francke, U.3    Hall, B.D.4    Golbus, M.S.5    Derstine, J.6    Epstein, C.J.7
  • 6
    • 0018289839 scopus 로고
    • Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature
    • Jones LA, Jordan DK, Taysi K, Strauss AW, Toth JK. 1979. Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature. Hum Genet 51:37-42.
    • (1979) Hum Genet , vol.51 , pp. 37-42
    • Jones, L.A.1    Jordan, D.K.2    Taysi, K.3    Strauss, A.W.4    Toth, J.K.5
  • 7
    • 0023134292 scopus 로고
    • Clinical manifestations of trisomy 5q
    • Kumar D, Heath PR, Blank CE. 1987. Clinical manifestations of trisomy 5q. J Med Genet 24:180-184.
    • (1987) J Med Genet , vol.24 , pp. 180-184
    • Kumar, D.1    Heath, P.R.2    Blank, C.E.3
  • 8
    • 0033555425 scopus 로고    scopus 로고
    • Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: A possible mechanism for MSX2-mediated craniosynostosis in humans
    • Liu YH, Tang Z, Kundu RK, Wu L, Luo W, Zhu D, Sangiorgi F, Snead ML, Maxson RE. 1999. Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: A possible mechanism for MSX2-mediated craniosynostosis in humans. Dev Biol 205:260-274.
    • (1999) Dev Biol , vol.205 , pp. 260-274
    • Liu, Y.H.1    Tang, Z.2    Kundu, R.K.3    Wu, L.4    Luo, W.5    Zhu, D.6    Sangiorgi, F.7    Snead, M.L.8    Maxson, R.E.9
  • 9
    • 0032969409 scopus 로고    scopus 로고
    • Two cases of terminal deletion of chromosome 13: Clinical features, conventional, and molecular cytogenetic analysis
    • Luquet I, Favre B, Nadal N, Madinier N, Khau Van KP, Huet F, Nivelon CA, Mugneret F. 1999. Two cases of terminal deletion of chromosome 13: Clinical features, conventional, and molecular cytogenetic analysis. Ann Genet 42:33-39.
    • (1999) Ann Genet , vol.42 , pp. 33-39
    • Luquet, I.1    Favre, B.2    Nadal, N.3    Madinier, N.4    Khau Van, K.P.5    Huet, F.6    Nivelon, C.A.7    Mugneret, F.8
  • 10
    • 0029800845 scopus 로고    scopus 로고
    • The molecular basis of Boston-type craniosynostosis: The Pro148->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences
    • Ma L, Golden S, Wu L, Maxson R. 1996. The molecular basis of Boston-type craniosynostosis: The Pro148->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Hum Mol Genet 5:1915-1920.
    • (1996) Hum Mol Genet , vol.5 , pp. 1915-1920
    • Ma, L.1    Golden, S.2    Wu, L.3    Maxson, R.4
  • 11
    • 0037219437 scopus 로고    scopus 로고
    • Interrupted aortic arch in a child with trisomy 5q31.1-q35.1 due to a maternal (20;5) balanced insertion
    • Martin DM, Mindell MH, Kwierant CA, Glover TW, Gorski JL. 2003. Interrupted aortic arch in a child with trisomy 5q31.1-q35.1 due to a maternal (20;5) balanced insertion. Am J Med Genet 116:268-271.
    • (2003) Am J Med Genet , vol.116 , pp. 268-271
    • Martin, D.M.1    Mindell, M.H.2    Kwierant, C.A.3    Glover, T.W.4    Gorski, J.L.5
  • 12
    • 0018911307 scopus 로고
    • Partial trisomy 5q: Three different phenotypes depending on different duplication segments
    • Rodewald A, Zankl M, Gley EO, Zang KD. 1980. Partial trisomy 5q: Three different phenotypes depending on different duplication segments. Hum Genet 55:191-198.
    • (1980) Hum Genet , vol.55 , pp. 191-198
    • Rodewald, A.1    Zankl, M.2    Gley, E.O.3    Zang, K.D.4
  • 14
    • 0031736818 scopus 로고    scopus 로고
    • A patient with 13q-syndrome with mild mental retardation and with growth retardation
    • Stoll C, Alembik Y. 1998. A patient with 13q-syndrome with mild mental retardation and with growth retardation. Ann Genet 41:209-212.
    • (1998) Ann Genet , vol.41 , pp. 209-212
    • Stoll, C.1    Alembik, Y.2
  • 15
    • 0026742747 scopus 로고
    • Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent
    • Van Der Burgt CJ, Merkx GF, Janssen AH, Mulder JC, Suijkerbuijk RF, Smeets DF. 1992. Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. J Med Genet 29:739-741.
    • (1992) J Med Genet , vol.29 , pp. 739-741
    • Van Der Burgt, C.J.1    Merkx, G.F.2    Janssen, A.H.3    Mulder, J.C.4    Suijkerbuijk, R.F.5    Smeets, D.F.6
  • 16
    • 0035863626 scopus 로고    scopus 로고
    • Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications
    • Walsh LE, Vance GH, Weaver DD. 2001. Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications. Am J Med Genet 98:137-144.
    • (2001) Am J Med Genet , vol.98 , pp. 137-144
    • Walsh, L.E.1    Vance, G.H.2    Weaver, D.D.3
  • 18
    • 0036660683 scopus 로고    scopus 로고
    • Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: A female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10): A case report and a family study
    • Wysocka B, Brozek I, Wierzba J, Kardas II, Wozniak A, Kowalczyk J, Balcerska A, Limon J. 2002. Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: A female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10): A case report and a family study. Ann Genet 45:143-146.
    • (2002) Ann Genet , vol.45 , pp. 143-146
    • Wysocka, B.1    Brozek, I.2    Wierzba, J.3    Kardas, I.I.4    Wozniak, A.5    Kowalczyk, J.6    Balcerska, A.7    Limon, J.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.