Literature DB >> 4699505

Brachmann-de Lange syndrome. Report of two cases in a sibship.

E Lieber, J H Glaser, R Jhaveri.   

Abstract

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Year:  1973        PMID： 4699505     DOI： 10.1001/archpedi.1973.04160050065013

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  3 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.  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

3.  Germline mosaicism in Cornelia de Lange syndrome.

Authors:  Thomas P Slavin; Noam Lazebnik; Dinah M Clark; Jaime Vengoechea; Leslie Cohen; Maninder Kaur; Laura Konczal; Carol A Crowe; Jane E Corteville; Malgorzata J Nowaczyk; Janice L Byrne; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2012-05-11       Impact factor: 2.802
  3 in total

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