메뉴 건너뛰기




Volumn 172, Issue 2, 2016, Pages 179-189

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome

Author keywords

clinical variability; Cornelia de Lange syndrome; intellectual outcome; prognostic index

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DE LANGE SYNDROME; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; LIMB REDUCTION DEFECT; MAJOR CLINICAL STUDY; MALE; PERCEPTION DEAFNESS; POSTNATAL GROWTH; PRIORITY JOURNAL; PROGNOSIS; PROGNOSTIC ASSESSMENT; PROGNOSTIC INDEX OF SEVERITY OF INTELLECTUAL DISABILITY; SMALL FOR DATE INFANT; COMPLICATION; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; ITALY; SEVERITY OF ILLNESS INDEX; STATISTICAL MODEL;

EID: 84965081626     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31494     Document Type: Article
Times cited : (7)

References (59)
  • 1
    • 0003535936 scopus 로고    scopus 로고
    • 3rd edition, Hoboken, New Jersey, Wiley
    • Agresti A. 2013. Categorical data analysis, 3rd edition. Hoboken, New Jersey: Wiley. p 744. ISBN: 978-0-470-46363-5
    • (2013) Categorical data analysis , pp. 744
    • Agresti, A.1
  • 3
    • 0030788742 scopus 로고    scopus 로고
    • De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes
    • Allanson JE, Hennekam RC, Ireland M. 1997. De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes. J Med Genet 34:645–650.
    • (1997) J Med Genet , vol.34 , pp. 645-650
    • Allanson, J.E.1    Hennekam, R.C.2    Ireland, M.3
  • 5
    • 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. 1993. Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy. Am J Med Genet 47:965–968.
    • (1993) Am J Med Genet , vol.47 , pp. 965-968
    • Bay, C.1    Mauk, J.2    Radcliffe, J.3    Kaplan, P.4
  • 8
    • 84940593173 scopus 로고    scopus 로고
    • Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
    • Boyle MI, Jespersgaard C, Nazaryan L, Ravn K, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. 2015. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome. Gene 572:130–134.
    • (2015) Gene , vol.572 , pp. 130-134
    • Boyle, M.I.1    Jespersgaard, C.2    Nazaryan, L.3    Ravn, K.4    Brøndum-Nielsen, K.5    Bisgaard, A.M.6    Tümer, Z.7
  • 9
    • 0000358890 scopus 로고
    • Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaf-togkeit, halsrippen, behaarung)
    • Brachmann W. 1916. Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaf-togkeit, halsrippen, behaarung). Jarb Kinder Phys Erzie 84:225–235.
    • (1916) Jarb Kinder Phys Erzie , vol.84 , pp. 225-235
    • Brachmann, W.1
  • 10
    • 0027358361 scopus 로고
    • Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome
    • Clericuzio CL. 1993. Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome. Am J Med Genet 47:992–994.
    • (1993) Am J Med Genet , vol.47 , pp. 992-994
    • Clericuzio, C.L.1
  • 11
    • 0001547083 scopus 로고
    • Sur un type nouveau de dégénération (typus Amstelodamensis)
    • de Lange C. 1933. Sur un type nouveau de dégénération (typus Amstelodamensis). Arch Med Enfants 36:713–7193.
    • (1933) Arch Med Enfants , vol.36 , pp. 713-7193
    • de Lange, C.1
  • 15
    • 4644296379 scopus 로고    scopus 로고
    • Adherin: Key to the cohesin ring and cornelia de Lange syndrome
    • Dorsett D. 2004. Adherin: Key to the cohesin ring and cornelia de Lange syndrome. Curr Biol 14:R834–R836.
    • (2004) Curr Biol , vol.14 , pp. R834-R836
    • Dorsett, D.1
  • 16
    • 33846599680 scopus 로고    scopus 로고
    • Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes
    • Dorsett D. 2007. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes. Chromosoma 116:1–13.
    • (2007) Chromosoma , vol.116 , pp. 1-13
    • Dorsett, D.1
  • 17
    • 58149158042 scopus 로고    scopus 로고
    • On the molecular etiology of Cornelia de Lange syndrome
    • Dorsett D, Krantz ID. 2009. On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci 1151:22–37.
    • (2009) Ann N Y Acad Sci , vol.1151 , pp. 22-37
    • Dorsett, D.1    Krantz, I.D.2
  • 22
    • 0027429313 scopus 로고
    • Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome
    • Goodban MT. 1993. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. Am J Med Genet 47:1059–1063.
    • (1993) Am J Med Genet , vol.47 , pp. 1059-1063
    • Goodban, M.T.1
  • 23
    • 84355161987 scopus 로고    scopus 로고
    • In-frame Multi-Exon Deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome
    • Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC. 2012. In-frame Multi-Exon Deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. Am J Med Genet Part A 158A:193–198.
    • (2012) Am J Med Genet Part A , vol.158A , pp. 193-198
    • Hoppman-Chaney, N.1    Jang, J.S.2    Jen, J.3    Babovic-Vuksanovic, D.4    Hodge, J.C.5
  • 25
    • 0027423908 scopus 로고
    • Brachmann-de Lange syndrome: Delineation of the clinical phenotype
    • Ireland M, Donnai D, Burn J. 1993. Brachmann-de Lange syndrome: Delineation of the clinical phenotype. Am J Med Genet 47:959–964.
    • (1993) Am J Med Genet , vol.47 , pp. 959-964
    • Ireland, M.1    Donnai, D.2    Burn, J.3
  • 26
    • 0027429307 scopus 로고
    • De Lange syndrome: A clinical review of 310 individuals
    • Jackson L, Kline AD, Barr MA, Koch S. 1993. De Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 47:940–946.
    • (1993) Am J Med Genet , vol.47 , pp. 940-946
    • Jackson, L.1    Kline, A.D.2    Barr, M.A.3    Koch, S.4
  • 28
    • 0027366922 scopus 로고
    • Growth manifestations in the Brachmann-de Lange syndrome
    • Kline AD, Barr M, Jackson LG. 1993a. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet 47:1042–1049.
    • (1993) Am J Med Genet , vol.47 , pp. 1042-1049
    • Kline, A.D.1    Barr, M.2    Jackson, L.G.3
  • 36
    • 70350169074 scopus 로고    scopus 로고
    • Cornelia de Lange syndrome, cohesin, and beyond
    • Liu J, Krantz ID. 2009. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 76:303–314.
    • (2009) Clin Genet , vol.76 , pp. 303-314
    • Liu, J.1    Krantz, I.D.2
  • 39
    • 74049092772 scopus 로고    scopus 로고
    • Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease
    • Mannini L, Liu J, Krantz ID, Musio A. 2009. Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease. Hum Mutat 31:5–10.
    • (2009) Hum Mutat , vol.31 , pp. 5-10
    • Mannini, L.1    Liu, J.2    Krantz, I.D.3    Musio, A.4
  • 40
    • 84887615981 scopus 로고    scopus 로고
    • Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
    • Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A. 2013. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 34:1589–1596.
    • (2013) Hum Mutat , vol.34 , pp. 1589-1596
    • Mannini, L.1    Cucco, F.2    Quarantotti, V.3    Krantz, I.D.4    Musio, A.5
  • 42
    • 0027435930 scopus 로고
    • Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals
    • Moeschler JB, Graham JM, Jr. 1993. Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals. Am J Med Genet 47:969–976.
    • (1993) Am J Med Genet , vol.47 , pp. 969-976
    • Moeschler, J.B.1    Graham, J.M.2
  • 45
    • 0021970795 scopus 로고
    • The Brachmann-de Lange syndrome
    • Opitz JM. 1985. The Brachmann-de Lange syndrome. Am J Med Genet 22:89–102.
    • (1985) Am J Med Genet , vol.22 , pp. 89-102
    • Opitz, J.M.1
  • 53
    • 0027496221 scopus 로고
    • Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype
    • Saul RA, Rogers RC, Phelan MC, Stevenson RE. 1993. Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype. Am J Med Genet 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
  • 57
    • 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. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636–641.
    • (2004) Nat Genet , vol.36 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.J.2    Lisgo, S.3    Bamshad, M.J.4    Strachan, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.