메뉴 건너뛰기




Volumn 43, Issue 7, 2006, Pages 568-575

Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience

Author keywords

[No Author keywords available]

Indexed keywords

DROSOPHILA PROTEIN; PROTEIN NIPBL; UNCLASSIFIED DRUG;

EID: 33745909174     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.038240     Document Type: Article
Times cited : (130)

References (41)
  • 2
    • 0030788742 scopus 로고    scopus 로고
    • De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes
    • Allanson JE, Hennekam RCM, Ireland M. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J Med Genet 1997;34:645-50.
    • (1997) J Med Genet , vol.34 , pp. 645-650
    • Allanson, J.E.1    Hennekam, R.C.M.2    Ireland, M.3
  • 4
    • 0024576581 scopus 로고
    • Mild Brachmann-de Lange syndrome: Changes of phenotype with age
    • Greenberg F, Robinson LK. Mild Brachmann-de Lange syndrome: Changes of phenotype with age. Am J Med Genet 1989;32:90-2.
    • (1989) Am J Med Genet , vol.32 , pp. 90-92
    • Greenberg, F.1    Robinson, L.K.2
  • 5
    • 0026545975 scopus 로고
    • Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: Mild Brachmann-de Lange syndrome?
    • Halal F, Silver K. Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome? Am J Med Genet 1992;24:381-6.
    • (1992) Am J Med Genet , vol.24 , pp. 381-386
    • Halal, F.1    Silver, K.2
  • 8
    • 0027429307 scopus 로고
    • De Lange syndrome: A clinical review of 310 individuals
    • Jackson L, Kline AD, Barr MA, Koch S. De Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993;47:940-6.
    • (1993) Am J Med Genet , vol.47 , pp. 940-946
    • Jackson, L.1    Kline, A.D.2    Barr, M.A.3    Koch, S.4
  • 9
    • 18244408870 scopus 로고    scopus 로고
    • Self-injurious behaviour, self-restraint, and compulsive behaviours in Cornelia de Lange syndrome
    • Hyman P, Oliver C, Hall S. Self-injurious behaviour, self-restraint, and compulsive behaviours in Cornelia de Lange syndrome. Am J Ment Retard 2002;107:146-54.
    • (2002) Am J Ment Retard , vol.107 , pp. 146-154
    • Hyman, P.1    Oliver, C.2    Hall, S.3
  • 10
    • 0027488443 scopus 로고
    • Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy
    • Bay C, Mauk J, Radcliffe J, Kaplan P. Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy. Am J Med Genet 1993;47:965-8.
    • (1993) Am J Med Genet , vol.47 , pp. 965-968
    • Bay, C.1    Mauk, J.2    Radcliffe, J.3    Kaplan, P.4
  • 11
    • 0021970795 scopus 로고
    • The Brachmann-de Lange syndrome
    • Opitz JM. The Brachmann-de Lange syndrome. Am J Med Genet 1985;22:89-102.
    • (1985) Am J Med Genet , vol.22 , pp. 89-102
    • Opitz, J.M.1
  • 12
    • 0030847322 scopus 로고    scopus 로고
    • Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome
    • Sarimski K. Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. J Intellect Disabil Res 1997;41:70-5.
    • (1997) J Intellect Disabil Res , vol.41 , pp. 70-75
    • Sarimski, K.1
  • 13
    • 0001960420 scopus 로고
    • Psychological and behavioural phenotypes in genetically determined disorders: A review of research findings
    • O'Brien G, Yule W, eds. London: Mac Keith Press
    • Udwin O, Dennis J. Psychological and behavioural phenotypes in genetically determined disorders: a review of research findings. In: O'Brien G, Yule W, eds. Behavioural phenotypes. London: Mac Keith Press, 1995.
    • (1995) Behavioural Phenotypes
    • Udwin, O.1    Dennis, J.2
  • 15
    • 2642565901 scopus 로고    scopus 로고
    • NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
    • Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genet 2004;36:636-41.
    • (2004) Nature Genet , vol.36 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.J.2    Lisgo, S.3    Bamshad, M.J.4    Strachan, T.5
  • 16
    • 0033018842 scopus 로고    scopus 로고
    • Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes
    • Rollins RA, Morcillo P, Dorsett D. Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 1999;152:577-93.
    • (1999) Genetics , vol.152 , pp. 577-593
    • Rollins, R.A.1    Morcillo, P.2    Dorsett, D.3
  • 17
    • 1842557791 scopus 로고    scopus 로고
    • Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation or the cut gene
    • Rollins RA, Korom M, Aulner N, Martens A, Dorsett D. Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation or the cut gene. Mol Cell Biol 2004;24:3100-11.
    • (2004) Mol Cell Biol , vol.24 , pp. 3100-3111
    • Rollins, R.A.1    Korom, M.2    Aulner, N.3    Martens, A.4    Dorsett, D.5
  • 21
    • 0014241897 scopus 로고
    • Head circumference from birth to eighteen years
    • Nellhaus GG. Head circumference from birth to eighteen years. Pediatrics 1968;41:106-11.
    • (1968) Pediatrics , vol.41 , pp. 106-111
    • Nellhaus, G.G.1
  • 24
    • 0021950757 scopus 로고
    • Sixty-four patients with Brachmann-de Lange syndrome: A survey
    • Hawley PP, Jackson LG, Kurnit DM. Sixty-four patients with Brachmann-de Lange syndrome: a survey. Am J Med Genet 1985;20:453-9.
    • (1985) Am J Med Genet , vol.20 , pp. 453-459
    • Hawley, P.P.1    Jackson, L.G.2    Kurnit, D.M.3
  • 27
    • 0021195408 scopus 로고
    • The behavior inventory for rating development (BIRD): Assessments of reliability and factorial validity
    • Sparrow SS, Cicchetti DV. The behavior inventory for rating development (BIRD): assessments of reliability and factorial validity. Appl Res Ment Retard 1984;5:219-31.
    • (1984) Appl Res Ment Retard , vol.5 , pp. 219-231
    • Sparrow, S.S.1    Cicchetti, D.V.2
  • 28
    • 0036158813 scopus 로고    scopus 로고
    • Psychometric properties of the revised Developmental Behaviour Checklist scales in Dutch children with intellectual disability
    • Dekker MC, Nunn R, Koot HM. Psychometric properties of the revised Developmental Behaviour Checklist scales in Dutch children with intellectual disability. J Intellect Disabil Res 2002;46:61-75.
    • (2002) J Intellect Disabil Res , vol.46 , pp. 61-75
    • Dekker, M.C.1    Nunn, R.2    Koot, H.M.3
  • 29
    • 0029065080 scopus 로고
    • The Developmental Behavior Checklist: The development and validation of an instrument to assess behavioral and emotional disturbance in children and adolescents with mental retardation
    • Einfeld SL, Tonge BJ. The Developmental Behavior Checklist: the development and validation of an instrument to assess behavioral and emotional disturbance in children and adolescents with mental retardation. J Autism Dev Disord 1995;25:81-104.
    • (1995) J Autism Dev Disord , vol.25 , pp. 81-104
    • Einfeld, S.L.1    Tonge, B.J.2
  • 31
    • 0027358361 scopus 로고
    • Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome
    • Clericuzio CL. Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome. Am J Med Genet 1993;47:992-4.
    • (1993) Am J Med Genet , vol.47 , pp. 992-994
    • Clericuzio, C.L.1
  • 32
    • 0027435930 scopus 로고
    • Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals
    • Moeschler JB, Graham JM Jr. Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals. Am J Med Genet 1993;47:969-76.
    • (1993) Am J Med Genet , vol.47 , pp. 969-976
    • Moeschler, J.B.1    Graham Jr., J.M.2
  • 33
    • 0027496221 scopus 로고
    • Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype
    • Saul RA, Rogers RC, Phelan MC, Stevenson RE. Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype. Am J Med Genet 1993;47:999-1002.
    • (1993) Am J Med Genet , vol.47 , pp. 999-1002
    • Saul, R.A.1    Rogers, R.C.2    Phelan, M.C.3    Stevenson, R.E.4
  • 34
    • 19444365725 scopus 로고    scopus 로고
    • Cornelia de Lange syndrome and the link between chromosomal function, DNA repair and developmental gene regulation
    • Strachan T. Cornelia de Lange syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Curr Opin Genet Dev 2005;15:258-64.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 258-264
    • Strachan, T.1
  • 36
    • 0032835107 scopus 로고    scopus 로고
    • Behavioural phenotype of Cornelia de Lange syndrome
    • Berney TP, Ireland M, Burn J. Behavioural phenotype of Cornelia de Lange syndrome. Arch Dis Child 1999;81:333-6.
    • (1999) Arch Dis Child , vol.81 , pp. 333-336
    • Berney, T.P.1    Ireland, M.2    Burn, J.3
  • 37
    • 33745908153 scopus 로고    scopus 로고
    • Communication development and aberrant behavior in children with developmental disabilities
    • Sigafoos J. Communication development and aberrant behavior in children with developmental disabilities. Educat Train Mental Retardat Develop Disab 2002;35:108-76.
    • (2002) Educat Train Mental Retardat Develop Disab , vol.35 , pp. 108-176
    • Sigafoos, J.1
  • 39
    • 0006510348 scopus 로고
    • Relationship between autism and learning disabilities
    • Schopler E, Mesibov GB, eds. New York: Plenum Press
    • Cox RD, Mesibov GB. Relationship between autism and learning disabilities. In: Schopler E, Mesibov GB, eds. Learning and cognition in autism. New York: Plenum Press, 1995.
    • (1995) Learning and Cognition in Autism
    • Cox, R.D.1    Mesibov, G.B.2
  • 40
    • 0026749249 scopus 로고
    • Subgroups in autism: Are there behavioural phenotypes typical of underlying medical conditions?
    • Gillberg CL. Subgroups in autism: are there behavioural phenotypes typical of underlying medical conditions? J Intellect Disabil Res 1992;36:201-14.
    • (1992) J Intellect Disabil Res , vol.36 , pp. 201-214
    • Gillberg, C.L.1
  • 41
    • 0027366922 scopus 로고
    • Growth manifestations in the Brachmann-de Lange syndrome
    • Kline AD, Barr M, Jackson LG. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet 1993;47:1042-9.
    • (1993) Am J Med Genet , vol.47 , pp. 1042-1049
    • Kline, A.D.1    Barr, M.2    Jackson, L.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.