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Volumn 140 A, Issue 6, 2006, Pages 640-643

Healthy 12-year-old boy with mosaic inv dup(15)(q13) [3]

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 33644853669     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31118     Document Type: Letter
Times cited : (11)

References (23)
  • 1
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    • Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: Chromosomal distribution, clinical findings, and UPD studies
    • Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML, Hickmann G. 2005. Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: Chromosomal distribution, clinical findings, and UPD studies. Eur J Hum Genet 13:1192-1204.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1192-1204
    • Bartsch, O.1    Loitzsch, A.2    Kozlowski, P.3    Mazauric, M.L.4    Hickmann, G.5
  • 2
    • 22244476747 scopus 로고    scopus 로고
    • The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder
    • Battaglia A. 2005. The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder. Brain Dev 27:365-369.
    • (2005) Brain Dev , vol.27 , pp. 365-369
    • Battaglia, A.1
  • 6
    • 0028821373 scopus 로고
    • Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
    • Crolla JA, Harvey JF, Sitch FL, Dennis NR. 1995. Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95:161-170.
    • (1995) Hum Genet , vol.95 , pp. 161-170
    • Crolla, J.A.1    Harvey, J.F.2    Sitch, F.L.3    Dennis, N.R.4
  • 7
    • 13544262673 scopus 로고    scopus 로고
    • Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited
    • Crolla JA, Youings SA, Ennis S, Jacobs PA. 2005. Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited. Eur J Hum Genet 13:154-160.
    • (2005) Eur J Hum Genet , vol.13 , pp. 154-160
    • Crolla, J.A.1    Youings, S.A.2    Ennis, S.3    Jacobs, P.A.4
  • 9
    • 0031886935 scopus 로고    scopus 로고
    • Unusual features in children with inv dup(15) supernumerary marker: A study of genotype-phenotype correlation in Taiwan
    • Hou JW, Wang TR. 1998. Unusual features in children with inv dup(15) supernumerary marker: A study of genotype-phenotype correlation in Taiwan. Eur J Pediatr 157:122-127.
    • (1998) Eur J Pediatr , vol.157 , pp. 122-127
    • Hou, J.W.1    Wang, T.R.2
  • 10
    • 0031060712 scopus 로고    scopus 로고
    • Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
    • Huang B, Crolla JA, Christian SL, Wolf-Ledbetter DH. 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 99:11-17.
    • (1997) Hum Genet , vol.99 , pp. 11-17
    • Huang, B.1    Crolla, J.A.2    Christian, S.L.3    Wolf-Ledbetter, D.H.4
  • 11
    • 0021331411 scopus 로고
    • Mosaic inversion duplication of chromosome 15 without phenotypic effect: Occurrence in a father and daughter
    • Knight LA, Lipson M, Mann J, Bachmann R. 1984. Mosaic inversion duplication of chromosome 15 without phenotypic effect: Occurrence in a father and daughter. Am J Med Genet 17:649-654.
    • (1984) Am J Med Genet , vol.17 , pp. 649-654
    • Knight, L.A.1    Lipson, M.2    Mann, J.3    Bachmann, R.4
  • 12
    • 0031920916 scopus 로고    scopus 로고
    • Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay
    • Long FL, Duckett DP, Billam LJ, Williams DK, Crolla JA. 1998. Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet 35:425-428.
    • (1998) J Med Genet , vol.35 , pp. 425-428
    • Long, F.L.1    Duckett, D.P.2    Billam, L.J.3    Williams, D.K.4    Crolla, J.A.5
  • 13
    • 0029960187 scopus 로고    scopus 로고
    • Clinical heterogeneity in 16 patients with inv dup 15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect
    • Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattel MG. 1996. Clinical heterogeneity in 16 patients with inv dup 15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect. Eur J Hum Genet 4:88-100.
    • (1996) Eur J Hum Genet , vol.4 , pp. 88-100
    • Mignon, C.1    Malzac, P.2    Moncla, A.3    Depetris, D.4    Roeckel, N.5    Croquette, M.F.6    Mattel, M.G.7
  • 16
    • 0242607218 scopus 로고    scopus 로고
    • Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity
    • Roberts SE, Maggouta F, Thomas NS, Jacobs PA, Crolla JA. 2003. Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet 73:1061-1072.
    • (2003) Am J Hum Genet , vol.73 , pp. 1061-1072
    • Roberts, S.E.1    Maggouta, F.2    Thomas, N.S.3    Jacobs, P.A.4    Crolla, J.A.5
  • 23
    • 0031946990 scopus 로고    scopus 로고
    • Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15
    • Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S. 1998. Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet 62:925-936.
    • (1998) Am J Hum Genet , vol.62 , pp. 925-936
    • Wandstrat, A.E.1    Leana-Cox, J.2    Jenkins, L.3    Schwartz, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.