Literature DB >> 11954747

Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.

Alessandra Toscano, Silvia Anaclerio, Maria Cristina Digilio, Aldo Giannotti, Giuseppe Fariello, Bruno Dallapiccola, Bruno Marino.   

Abstract

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Year:  2002        PMID： 11954747     DOI： 10.1007/s00431-001-0877-5

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  4 in total

1.  Cardiac neural crest cells provide new insight into septation of the cardiac outflow tract: aortic sac to ventricular septal closure.

Authors:  K Waldo; S Miyagawa-Tomita; D Kumiski; M L Kirby
Journal:  Dev Biol       Date:  1998-04-15       Impact factor: 3.582

2.  HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.

Authors:  M J Farrell; H Stadt; K T Wallis; P Scambler; R L Hixon; R Wolfe; L Leatherbury; M L Kirby
Journal:  Circ Res       Date:  1999-02-05       Impact factor: 17.367

3.  Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome.

Authors:  K Momma; C Kondo; R Matsuoka; A Takao
Journal:  Am J Cardiol       Date:  1996-09-01       Impact factor: 2.778

4.  Anatomic patterns of conotruncal defects associated with deletion 22q11.

Authors:  B Marino; M C Digilio; A Toscano; S Anaclerio; A Giannotti; C Feltri; M A de Ioris; A Angioni; B Dallapiccola
Journal:  Genet Med       Date:  2001 Jan-Feb       Impact factor: 8.822
  4 in total
  7 in total

Review 1.  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

Review 2.  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

3.  Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.

Authors:  M Cristina Digilio; Donna M McDonald-McGinn; Carrie Heike; Charles Catania; Bruno Dallapiccola; Bruno Marino; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

4.  Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.

Authors:  Jilu Lang; Weichen Tian; Xian Sun
Journal:  Mol Diagn Ther       Date:  2013-04       Impact factor: 4.074

5.  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

6.  Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

Authors:  Gioia Mastromoro; Giulio Calcagni; Paolo Versacci; Carolina Putotto; Marcello Chinali; Caterina Lambiase; Marta Unolt; Elena Pelliccione; Silvia Anaclerio; Cinzia Caprio; Sara Cioffi; Marchesa Bilio; Anwar Baban; Fabrizio Drago; Maria Cristina Digilio; Bruno Marino; Antonio Baldini
Journal:  PLoS One       Date:  2019-04-01       Impact factor: 3.240

Review 7.  Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.

Authors:  Giulio Calcagni; Flaminia Pugnaloni; Maria Cristina Digilio; Marta Unolt; Carolina Putotto; Marcello Niceta; Anwar Baban; Francesca Piceci Sparascio; Fabrizio Drago; Alessandro De Luca; Marco Tartaglia; Bruno Marino; Paolo Versacci
Journal:  Genes (Basel)       Date:  2021-07-08       Impact factor: 4.096
  7 in total

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