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Volumn 26, Issue 1, 2009, Pages 50-53

Cornelia de lange syndrome: A recognizable fetal phenotype

Author keywords

Anomalies, limb; Cornelia de Lange syndrome; Hernia, diaphragmatic; NIPBL mutation; Phenotype, fetal

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CESAREAN SECTION; CYSTIC LYMPHANGIOMA; DE LANGE SYNDROME; DIAPHRAGM HERNIA; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE; GENE MUTATION; GENETIC COUNSELING; GESTATIONAL AGE; GROWTH RETARDATION; HUMAN; NIPBL GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINATAL PERIOD; PHENOTYPE; PREGNANCY TERMINATION; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY;

EID: 70350749434     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000236361     Document Type: Article
Times cited : (15)

References (16)
  • 3
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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: 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 2004; 36: 636-641.
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  • 6
    • 33847704182 scopus 로고    scopus 로고
    • Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations
    • Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L: Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat 2007; 28: 205-206.
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  • 8
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    • Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome
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    • Abnormal first-trimester fetal nuchal translucency and Cornelia de Lange syndrome
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  • 11
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  • 15
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    • Second-trimester pregnancy associated plasma protein- A levels are reduced in Cornelia de Lange syndrome pregnancies
    • Aitken DA, Ireland M, Berry E, Crossley JA, Macri JN, Burn J, Connor JM: Second-trimester pregnancy associated plasma protein- A levels are reduced in Cornelia de Lange syndrome pregnancies. Prenat Diagn 1999; 19: 706-710.
    • (1999) Prenat Diagn , vol.19 , pp. 706-710
    • Aitken, D.A.1    Ireland, M.2    Berry, E.3    Crossley, J.A.4    MacRi, J.N.5    Burn, J.6    Connor, J.M.7
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    • Low first-trimester pregnancy- associated plasma protein-A and Cornelia de Lange syndrome
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.