Literature DB >> 5124937

Familial de Lange syndrome. Report of three cases in a sibship.

N G Beratis, L Y Hsu, K Hirschhorn.   

Abstract

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Year:  1971        PMID： 5124937

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 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.  Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Authors:  Salma Ben-Salem; Nara Sobreira; Nadia A Akawi; Aisha M Al-Shamsi; Anne John; Thachillath Pramathan; David Valle; Bassam R Ali; Lihadh Al-Gazali
Journal:  Am J Med Genet A       Date:  2015-09-23       Impact factor: 2.802

3.  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

4.  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

5.  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
  5 in total

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