Literature DB >> 2194395

Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations.

A J Rein1, S Dollberg, R Gale.   

Abstract

Genetic predisposition in congenital heart disease is considered to be a component of multifactorial inheritance. Recently, monogenic inheritance in conotruncal malformations has been suggested. We describe a consanguineous kindred with various conotruncal malformations, the presence of which lends support to the idea that this spectrum of malformation is monogenically inherited. Theoretical background and experimental and clinical data are reviewed and discussed.

Entities:  

Mesh：

Year:  1990        PMID： 2194395     DOI： 10.1002/ajmg.1320360322

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


  4 in total

1.  Complete aortic arch obstruction: interruption or aortic coarctation?

Authors:  J W J Vriend; J Lam; B J M Mulder
Journal:  Int J Cardiovasc Imaging       Date:  2004-10       Impact factor: 2.357

2.  The keeshond defect in cardiac conotruncal development is oligogenic.

Authors:  Petra Werner; Michael G Raducha; Ulana Prociuk; Elaine A Ostrander; Richard S Spielman; Ewen F Kirkness; Donald F Patterson; Paula S Henthorn
Journal:  Hum Genet       Date:  2005-02-12       Impact factor: 4.132

3.  Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

4.  Expression of elastin, smooth muscle alpha-actin, and c-jun as a function of the embryonic lineage of vascular smooth muscle cells.

Authors:  P F Gadson; C Rossignol; J McCoy; T H Rosenquist
Journal:  In Vitro Cell Dev Biol Anim       Date:  1993-10       Impact factor: 2.416
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.