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Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene

2003; Wiley; Volume: 116A; Issue: 4 Linguagem: Inglês

10.1002/ajmg.a.10036

ISSN

1552-4833

Autores

Anna Sárközy, Giorgia Esposito, Antonio Pizzuti, Bruno Dallapiccola, Emanuela Conti, Rita Mingarelli, Bruno Marino, M. Cristina Digilio, Vincenzo Paoletti,

Tópico(s)

Congenital heart defects research

Resumo

American Journal of Medical Genetics Part AVolume 116A, Issue 4 p. 389-390 Research Letter Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene Anna Sarkozy, Anna Sarkozy CSS Hospital, IRCCS, San Giovanni Rotondo, ItalySearch for more papers by this authorGiorgia Esposito, Giorgia Esposito CSS–Mendel Institute, Rome, ItalySearch for more papers by this authorAntonio Pizzuti, Corresponding Author Antonio Pizzuti [email protected] CSS Hospital, IRCCS, San Giovanni Rotondo, ItalyCSS–Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy.Search for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola Section of Medical Genetics, Department of Experimental Medicine and Pathology, University "La Sapienza", Rome, ItalySearch for more papers by this authorEmanuela Conti, Emanuela Conti CSS Hospital, IRCCS, San Giovanni Rotondo, ItalySearch for more papers by this authorRita Mingarelli, Rita Mingarelli CSS Hospital, IRCCS San Giovanni Rotondo, Italy CSS-Mendel Institute Rome, ItalySearch for more papers by this authorBruno Marino, Bruno Marino Section of Pediatric Cardiology, Institute of Pediatrics, University "La Sapienza", Rome, ItalySearch for more papers by this authorMaria Cristina Digilio, Maria Cristina Digilio Division of Medical Genetics, Bambino Gesù Hospital, IRCCS, Rome, ItalySearch for more papers by this authorVincenzo Paoletti, Vincenzo Paoletti Department of Medical Therapy, University "La Sapienza", Rome, ItalySearch for more papers by this author Anna Sarkozy, Anna Sarkozy CSS Hospital, IRCCS, San Giovanni Rotondo, ItalySearch for more papers by this authorGiorgia Esposito, Giorgia Esposito CSS–Mendel Institute, Rome, ItalySearch for more papers by this authorAntonio Pizzuti, Corresponding Author Antonio Pizzuti [email protected] CSS Hospital, IRCCS, San Giovanni Rotondo, ItalyCSS–Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy.Search for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola Section of Medical Genetics, Department of Experimental Medicine and Pathology, University "La Sapienza", Rome, ItalySearch for more papers by this authorEmanuela Conti, Emanuela Conti CSS Hospital, IRCCS, San Giovanni Rotondo, ItalySearch for more papers by this authorRita Mingarelli, Rita Mingarelli CSS Hospital, IRCCS San Giovanni Rotondo, Italy CSS-Mendel Institute Rome, ItalySearch for more papers by this authorBruno Marino, Bruno Marino Section of Pediatric Cardiology, Institute of Pediatrics, University "La Sapienza", Rome, ItalySearch for more papers by this authorMaria Cristina Digilio, Maria Cristina Digilio Division of Medical Genetics, Bambino Gesù Hospital, IRCCS, Rome, ItalySearch for more papers by this authorVincenzo Paoletti, Vincenzo Paoletti Department of Medical Therapy, University "La Sapienza", Rome, ItalySearch for more papers by this author First published: 08 January 2003 https://doi.org/10.1002/ajmg.a.10036Citations: 14Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Burn J, Goodship J. 2002. Congenital heart disease. In: DL Rimoin, MJ Connor, RE Pyeritz, BR Korf, editors. Emery and Rimoin's principle and practice of medical genetics, Fourth Edition. London: Churchill Livingstone. p 1239–1326. Google Scholar Chen B, Bronson RT, Klaman LD, et al. 2000. Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 24: 296–299. 10.1038/73528 CASPubMedWeb of Science®Google Scholar Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 1999. Atrioventricular canal defect without down syndrome: A heterogenous malformation. Am J Med Gene 85: 140–146. 10.1002/(SICI)1096-8628(19990716)85:2 3.0.CO;2-A CASPubMedWeb of Science®Google Scholar Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B. 2002. 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