Literature DB >> 8677886

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

M C Digilio1, B Marino, S Grazioli, D Agostino, A Giannotti, B Dallapiccola.   

Abstract

Our results confirm that classic TF can be associated with many genetic conditions, but most patients are nonsyndromic. In contrast, children with TF-PA have a high incidence of genetic syndromes, particularly those related to CATCH22 syndrome.

Entities:  

Mesh：

Year:  1996        PMID： 8677886     DOI： 10.1016/s0002-9149(96)00212-3

Source DB:  PubMed          Journal:  Am J Cardiol        ISSN： 0002-9149            Impact factor:   2.778


  13 in total

1.  Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

Authors:  M C Digilio; B Marino; A Giannotti; A Toscano; B Dallapiccola
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  Ductal stent implantation in tetralogy of fallot with aortic arch abnormality.

Authors:  Hasan Tahsin Tola; Yakup Ergul; Murat Saygi; Isa Ozyilmaz; Alper Guzeltas; Ender Odemis
Journal:  Tex Heart Inst J       Date:  2015-06-01

Review 3.  Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Authors:  Marta Unolt; Paolo Versacci; Silvia Anaclerio; Caterina Lambiase; Giulio Calcagni; Matteo Trezzi; Adriano Carotti; Terrence Blaine Crowley; Elaine H Zackai; Elizabeth Goldmuntz; James William Gaynor; Maria Cristina Digilio; Donna M McDonald-McGinn; Bruno Marino
Journal:  Am J Med Genet A       Date:  2018-04-16       Impact factor: 2.802

4.  A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.

Authors:  Valentina Guida; Rosangela Ferese; Marcella Rocchetti; Monica Bonetti; Anna Sarkozy; Serena Cecchetti; Vania Gelmetti; Francesca Lepri; Massimiliano Copetti; Giuseppe Lamorte; Maria Cristina Digilio; Bruno Marino; Antonio Zaza; Jeroen den Hertog; Bruno Dallapiccola; Alessandro De Luca
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

5.  Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries.

Authors:  M Hofbeck; A Rauch; G Buheitel; G Leipold; J von der Emde; R Pfeiffer; H Singer
Journal:  Heart       Date:  1998-02       Impact factor: 5.994

Review 6.  22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.

Authors:  Carolina Putotto; Flaminia Pugnaloni; Marta Unolt; Stella Maiolo; Matteo Trezzi; Maria Cristina Digilio; Annapaola Cirillo; Giuseppe Limongelli; Bruno Marino; Giulio Calcagni; Paolo Versacci
Journal:  Children (Basel)       Date:  2022-05-25

7.  Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes?

Authors:  Ralf Rauch; Anita Rauch; Andreas Koch; Stefan Zink; Renate Kaulitz; Monika Girisch; Helmut Singer; Michael Hofbeck
Journal:  Eur J Pediatr       Date:  2004-08-06       Impact factor: 3.183

8.  Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.

Authors:  Wai Lun Alan Fung; Eva W C Chow; Gary D Webb; Michael A Gatzoulis; Anne S Bassett
Journal:  Int J Cardiol       Date:  2008-01-11       Impact factor: 4.164

9.  Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).

Authors:  Mc Digilio; B Marino; R Capolino; B Dallapiccola
Journal:  Images Paediatr Cardiol       Date:  2005-04

10.  Rare de novo copy number variants in patients with congenital pulmonary atresia.

Authors:  Li Xie; Jin-Lan Chen; Wei-Zhi Zhang; Shou-Zheng Wang; Tian-Li Zhao; Can Huang; Jian Wang; Jin-Fu Yang; Yi-Feng Yang; Zhi-Ping Tan
Journal:  PLoS One       Date:  2014-05-14       Impact factor: 3.240
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