Literature DB >> 3799716

Familial occurrence of Brachmann-de Lange syndrome.

A Bankier, E Haan, R Birrell.   

Abstract

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Year:  1986        PMID： 3799716     DOI： 10.1002/ajmg.1320250119

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

Review 1.  Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Authors:  K L Russell; J E Ming; K Patel; L Jukofsky; M Magnusson; I D Krantz
Journal:  Am J Med Genet       Date:  2001-12-15

2.  Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases.

Authors:  M Maruiwa; Y Nakamura; K Motomura; T Murakami; M Kojiro; M Kato; M Morimatsu; S Fukuda; T Hashimoto
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1988

3.  Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

Authors:  I D Krantz; E Tonkin; M Smith; M Devoto; A Bottani; C Simpson; M Hofreiter; V Abraham; L Jukofsky; B P Conti; T Strachan; L Jackson
Journal:  Am J Med Genet       Date:  2001-06-15

4.  Partial trisomy 3q causing mild Cornelia de Lange phenotype.

Authors:  S E Holder; L M Grimsley; R W Palmer; L J Butler; M Baraitser
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

5.  Cornelia de lange syndrome.

Authors:  Naeimeh Tayebi
Journal:  Indian J Hum Genet       Date:  2008-01

6.  NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Authors:  Lynette A Gillis; Jennifer McCallum; Maninder Kaur; Cheryl DeScipio; Dinah Yaeger; Allison Mariani; Antonie D Kline; Hui-hua Li; Marcella Devoto; Laird G Jackson; Ian D Krantz
Journal:  Am J Hum Genet       Date:  2004-08-18       Impact factor: 11.025
  6 in total

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