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The Congenital Heart Disease Genetic Network Study: Cohort description.
Hoang TT, Goldmuntz E, Roberts AE, Chung WK, Kline JK, Deanfield JE, Giardini A, Aleman A, Gelb BD, Mac Neal M, Porter GA Jr, Kim R, Brueckner M, Lifton RP, Edman S, Woyciechowski S, Mitchell LE, Agopian AJ. Hoang TT, et al. PLoS One. 2018 Jan 19;13(1):e0191319. doi: 10.1371/journal.pone.0191319. eCollection 2018. PLoS One. 2018. PMID: 29351346 Free PMC article.
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. ...The PCGC co
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network
Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F. Baldacci S, et al. Epidemiol Prev. 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. Epidemiol Prev. 2018. PMID: 30066535 Free article. Review. English.
In Europe, CAs are the leading cause of perinatal mortality: the European Surveillance of Congenital Anomalies (EUROC AT) network estimated a perinatal mortality associated with CAs of 9.2 per 10,000 births in 2008-2012. ...For this review, descriptive and an …
In Europe, CAs are the leading cause of perinatal mortality: the European Surveillance of Congenital Anomalies (EUROC AT) network
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Calcagni G, Limongelli G, D'Ambrosio A, Gesualdo F, Digilio MC, Baban A, Albanese SB, Versacci P, De Luca E, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Russo MG, Pacileo G, Milanesi O, Messina D, Marasini M, Cairello F, Formigari R, Brighenti M, Dallapiccola B, Tartaglia M, Marino B. Calcagni G, et al. Int J Cardiol. 2017 Oct 15;245:92-98. doi: 10.1016/j.ijcard.2017.07.068. Epub 2017 Jul 21. Int J Cardiol. 2017. PMID: 28768581 Clinical Trial.
The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres pa …
The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularl …
Prediction of cardiac transcription networks based on molecular data and complex clinical phenotypes.
Toenjes M, Schueler M, Hammer S, Pape UJ, Fischer JJ, Berger F, Vingron M, Sperling S. Toenjes M, et al. Mol Biosyst. 2008 Jun;4(6):589-98. doi: 10.1039/b800207j. Epub 2008 Apr 2. Mol Biosyst. 2008. PMID: 18493657
To precisely describe the variety of heart malformations observed in the patients, we delineate a detailed phenotype ontology that allows description of observed clinical characteristics as well as the definition of informative meta-phenotypes. Based on the expressi …
To precisely describe the variety of heart malformations observed in the patients, we delineate a detailed phenotype ontology that al …
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