Literature DB >> 18924173

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome.

M C Digilio1, Bruno Marino, Bruno Dallapiccola.   

Abstract

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Year:  2008        PMID: 18924173     DOI: 10.1002/ajmg.a.32526

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  4 in total

1.  Mutations in NOTCH1 cause Adams-Oliver syndrome.

Authors:  Anna-Barbara Stittrich; Anna Lehman; Dale L Bodian; Justin Ashworth; Zheyuan Zong; Hong Li; Patricia Lam; Alina Khromykh; Ramaswamy K Iyer; Joseph G Vockley; Rajiv Baveja; Ermelinda Santos Silva; Joanne Dixon; Eyby L Leon; Benjamin D Solomon; Gustavo Glusman; John E Niederhuber; Jared C Roach; Millan S Patel
Journal:  Am J Hum Genet       Date:  2014-08-14       Impact factor: 11.025

2.  RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Authors:  Susan J Hassed; Graham B Wiley; Shaofeng Wang; Ji-Yun Lee; Shibo Li; Weihong Xu; Zhizhuang J Zhao; John J Mulvihill; James Robertson; James Warner; Patrick M Gaffney
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025

3.  Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Authors:  Rajiv D Machado; Richard C Trembath; Laura Southgate; Maja Sukalo; Anastasios S V Karountzos; Edward J Taylor; Claire S Collinson; Deborah Ruddy; Katie M Snape; Bruno Dallapiccola; John L Tolmie; Shelagh Joss; Francesco Brancati; M Cristina Digilio; Luitgard M Graul-Neumann; Leonardo Salviati; Wiltrud Coerdt; Emmanuel Jacquemin; Wim Wuyts; Martin Zenker
Journal:  Circ Cardiovasc Genet       Date:  2015-05-11

4.  Adams-Oliver syndrome, intestinal obstruction and heart defects: a case series of aplasia cutis congenita.

Authors:  Ihsan Baroudi; Ola Alakhras; Thaer Douri; Nedal Alkhani
Journal:  Oxf Med Case Reports       Date:  2022-01-24
  4 in total

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