Literature DB >> 12569334

The genetics of congenital heart disease.

Paul D Grossfeld1.   

Abstract

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Year:  2003        PMID： 12569334     DOI： 10.1067/mnc.2003.129294

Source DB:  PubMed          Journal:  J Nucl Cardiol        ISSN： 1071-3581            Impact factor:   5.952


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  28 in total

1.  Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Authors:  Z A Eldadah; A Hamosh; N J Biery; R A Montgomery; M Duke; R Elkins; H C Dietz
Journal:  Hum Mol Genet       Date:  2001-01-15       Impact factor: 6.150

2.  TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

Authors:  S Merscher; B Funke; J A Epstein; J Heyer; A Puech; M M Lu; R J Xavier; M B Demay; R G Russell; S Factor; K Tokooya; B S Jore; M Lopez; R K Pandita; M Lia; D Carrion; H Xu; H Schorle; J B Kobler; P Scambler; A Wynshaw-Boris; A I Skoultchi; B E Morrow; R Kucherlapati
Journal:  Cell       Date:  2001-02-23       Impact factor: 41.582

3.  Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.

Authors:  D L Guris; J Fantes; D Tara; B J Druker; A Imamoto
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

4.  Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

Authors:  C Dasgupta; A M Martinez; C W Zuppan; M M Shah; L L Bailey; W H Fletcher
Journal:  Mutat Res       Date:  2001-08-08       Impact factor: 2.433

5.  CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

Authors:  Elizabeth Goldmuntz; Richard Bamford; Jayaprakash D Karkera; June dela Cruz; Erich Roessler; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-01-17       Impact factor: 11.025

6.  Co-localisation, heterophilic interactions and regulated expression of IgLON family proteins in the chick nervous system.

Authors:  A P Lodge; M R Howard; C J McNamee; D J Moss
Journal:  Brain Res Mol Brain Res       Date:  2000-10-20

7.  Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

Authors:  V C Sheffield; M E Pierpont; D Nishimura; J S Beck; T L Burns; M A Berg; E M Stone; S R Patil; R M Lauer
Journal:  Hum Mol Genet       Date:  1997-01       Impact factor: 6.150

8.  Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.

Authors:  R Kosaki; M Gebbia; K Kosaki; M Lewin; P Bowers; J A Towbin; B Casey
Journal:  Am J Med Genet       Date:  1999-01-01

9.  An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.

Authors:  Deborah U Frank; Lori K Fotheringham; Judson A Brewer; Louis J Muglia; Martin Tristani-Firouzi; Mario R Capecchi; Anne M Moon
Journal:  Development       Date:  2002-10       Impact factor: 6.868

10.  Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis.

Authors:  Helen M Phillips; Glenn L Renforth; Cosma Spalluto; Tom Hearn; Andrew R J Curtis; Lyndsey Craven; Beatrice Havarani; Mark Clement-Jones; Carol English; Oliver Stumper; Tony Salmon; Susie Hutchinson; Mike S Jackson; David I Wilson
Journal:  Genomics       Date:  2002-04       Impact factor: 5.736
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  3 in total

1.  Inactivation of Bmp4 from the Tbx1 expression domain causes abnormal pharyngeal arch artery and cardiac outflow tract remodeling.

Authors:  Xuguang Nie; Christopher B Brown; Qin Wang; Kai Jiao
Journal:  Cells Tissues Organs       Date:  2010-12-01       Impact factor: 2.481

2.  Disruption of Smad4 in neural crest cells leads to mid-gestation death with pharyngeal arch, craniofacial and cardiac defects.

Authors:  Xuguang Nie; Chu-xia Deng; Qin Wang; Kai Jiao
Journal:  Dev Biol       Date:  2008-02-15       Impact factor: 3.582

3.  Overexpression of Kif1A in the Developing Drosophila Heart Causes Valvar and Contractility Defects: Implications for Human Congenital Heart Disease.

Authors:  Takeshi Akasaka; Karen Ocorr; Lizhu Lin; Georg Vogler; Rolf Bodmer; Paul Grossfeld
Journal:  J Cardiovasc Dev Dis       Date:  2020-06-02
  3 in total

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