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Volumn 172, Issue 2, 2016, Pages 206-213

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

Author keywords

adult age; cohesin complex genes; Cornelia de Lange syndrome; gastroesophageal reflux

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONSTIPATION; DE LANGE SYNDROME; EPILEPSY; FEMALE; FOLLOW UP; GASTROESOPHAGEAL REFLUX; HEARING IMPAIRMENT; HUMAN; ITALIAN (CITIZEN); LIMB DISEASE; MAJOR CLINICAL STUDY; MALE; OBESITY; PRIORITY JOURNAL; VISUAL IMPAIRMENT; COMPLICATION; EPIDEMIOLOGY; HEARING DISORDER; ITALY; LIMB MALFORMATION; MENTAL DISEASE; MIDDLE AGED; PATHOLOGY; VISUAL DISORDER; YOUNG ADULT;

EID: 84966559627     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31502     Document Type: Article
Times cited : (18)

References (19)
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  • 5
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  • 10
    • 0041821653 scopus 로고    scopus 로고
    • Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms
    • Luzzani S, Macchini F, Valade A, Milani D, Selicorni A. 2003. Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms. Am J Med Genet Part A 119A:283–287.
    • (2003) Am J Med Genet Part A , vol.119A , pp. 283-287
    • Luzzani, S.1    Macchini, F.2    Valade, A.3    Milani, D.4    Selicorni, A.5
  • 12
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    • Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
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  • 15
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    • Olioso G, Passarini A, Atzeri F, Milani D, Cereda A, Cerutti M, Maitz S, Menni F, Selicorni A. 2009. Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome. Am J Med Gen 149A:2532–2537.
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    • Olioso, G.1    Passarini, A.2    Atzeri, F.3    Milani, D.4    Cereda, A.5    Cerutti, M.6    Maitz, S.7    Menni, F.8    Selicorni, A.9
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  • 19
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    • 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.
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    • 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.