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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. This artic …
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.
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 …
Surgically Acquired Vocal Cord Palsy in Infants and Children with Congenital Heart Disease (CHD): Description of Feeding Outcomes.
Pettigrew J, Tzannes G, Swift L, Docking K, Osland K, Cheng AT. Pettigrew J, et al. Dysphagia. 2022 Oct;37(5):1288-1304. doi: 10.1007/s00455-021-10390-5. Epub 2022 Jan 4. Dysphagia. 2022. PMID: 34981253 Review.
Such difficulties can lead to an increased burden of care and associated costs. The primary aim of this study was to investigate the impact of vocal cord palsy (VCP), acquired intraoperatively during cardiac surgery, on the feeding outcomes of infants at a tertiary metropo …
Such difficulties can lead to an increased burden of care and associated costs. The primary aim of this study was to investigate the …
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.
Here we described the identification of two unrelated families in which the AQP1 variant was found from a cohort of 300 patients. The variants were identified by whole exome sequencing (WES). ...In addition, we have reviewed all cases published in the literature thus far o …
Here we described the identification of two unrelated families in which the AQP1 variant was found from a cohort of 300 patients. The …
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 …
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.
The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National …
The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this …
Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study.
Ebert AK, Zwink N, Jenetzky E, Stein R, Boemers TM, Lacher M, Fortmann C, Obermayr F, Fisch M, Mortazawi K, Schmiedeke E, Eisenschmidt V, Schäfer M, Hirsch K, Rösch WH, Reutter H. Ebert AK, et al. Urology. 2019 Jan;123:210-220. doi: 10.1016/j.urology.2018.05.039. Epub 2018 Aug 1. Urology. 2019. PMID: 30076940
OBJECTIVE: To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurri …
OBJECTIVE: To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformat …
Evolution of clinical diagnosis in patients presenting with unexplained cardiac arrest or syncope due to polymorphic ventricular tachycardia.
Vittoria Matassini M, Krahn AD, Gardner M, Champagne J, Sanatani S, Birnie DH, Gollob MH, Chauhan V, Simpson CS, Hamilton RM, Talajic M, Ahmad K, Gerull B, Chakrabarti S, Healey JS. Vittoria Matassini M, et al. Heart Rhythm. 2014 Feb;11(2):274-81. doi: 10.1016/j.hrthm.2013.11.008. Epub 2013 Nov 14. Heart Rhythm. 2014. PMID: 24239842
However, evolution of clinical phenotype, identification of new disease-causing mutations, and description of new syndromes may revise the diagnosis. ...A follow-up resting electrocardiogram was the test that most frequently changed the diagnosis (67% of the cases), …
However, evolution of clinical phenotype, identification of new disease-causing mutations, and description of new syndromes ma …
Diabetes mellitus in children and adolescents with genetic syndromes.
Schmidt F, Kapellen TM, Wiegand S, Herbst A, Wolf J, Fröhlich-Reiterer EE, Rabl W, Rohrer TR, Holl RW; DPV-Wiss Study Group; BMBF Competence Network Diabetes. Schmidt F, et al. Exp Clin Endocrinol Diabetes. 2012 Nov;120(10):579-85. doi: 10.1055/s-0032-1306330. Epub 2012 Mar 22. Exp Clin Endocrinol Diabetes. 2012. PMID: 22441723
BACKGROUND: Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndrome …
BACKGROUND: Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DP …
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 …