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Page 1
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. ...Several …
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network …
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.
Martin-Giacalone BA, Lin AE, Rasmussen SA, Kirby RS, Nestoridi E, Liberman RF, Agopian AJ, Carey JC, Cragan JD, Forestieri N, Leedom V, Boyce A, Nembhard WN, Piccardi M, Sandidge T, Shan X, Shumate CJ, Stallings EB, Stevenson R, Lupo PJ. Martin-Giacalone BA, et al. Am J Med Genet A. 2023 May;191(5):1339-1349. doi: 10.1002/ajmg.a.63181. Epub 2023 Mar 15. Am J Med Genet A. 2023. PMID: 36919524 Free PMC article.
Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. ...Coarctati …
Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevent …
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature.
Gallego-Zazo N, Cruz-Utrilla A, Del Cerro MJ, Ochoa Parra N, Blanco JN, Arias P, Lapunzina P, Escribano-Subias P, Tenorio-Castaño J. Gallego-Zazo N, et al. Genes (Basel). 2022 May 22;13(5):927. doi: 10.3390/genes13050927. Genes (Basel). 2022. PMID: 35627312 Free PMC article. Review.
Pulmonary arterial hypertension (PAH) is a severe clinical condition characterized by an increase in mean pulmonary artery pressure, which leads to a right ventricular hypertrophy and potentially heart failure and death. In the last several years, many genes have been asso …
Pulmonary arterial hypertension (PAH) is a severe clinical condition characterized by an increase in mean pulmonary artery pressure, which l …
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R. Palma-Milla C, et al. Pediatr Neurol. 2024 Jun;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Epub 2024 Mar 14. Pediatr Neurol. 2024. PMID: 38569228 Review.
Autistic traits, notably rigidity, are observed in the cohort. Also, worth highlighting are hearing loss, sleep disturbances, and endocrine anomalies, including growth deficiency. Cardiac defects, frequently severe, pose early-life complications. Facial features, in …
Autistic traits, notably rigidity, are observed in the cohort. Also, worth highlighting are hearing loss, sleep disturbances, and end …
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
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
We analyze transcription levels of a comprehensive set of 42 genes in biopsies derived from hearts of a cohort of 190 patients as well as healthy individuals. To precisely describe the variety of heart malformations observed in the patients, we delineate a detailed …
We analyze transcription levels of a comprehensive set of 42 genes in biopsies derived from hearts of a cohort of 190 patients as wel …
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.
For this review, descriptive and analytical epidemiological studies (cohort, case-control, cross-sectional, and ecological), systematic reviews, and metanalyses reporting association estimates between the outcome and at least one of the risk factors were sele …
For this review, descriptive and analytical epidemiological studies (cohort, case-control, cross-sectional, and ecologi …