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Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Among authors: braz p. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.
Garne E, Rissmann A, Addor MC, Barisic I, Bergman J, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rouget F, Schaub B, Tucker D, Verellen-Dumoulin C, Wellesley D, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Morris JK. Garne E, et al. Among authors: braz p. Eur J Med Genet. 2018 Sep;61(9):483-488. doi: 10.1016/j.ejmg.2018.05.010. Epub 2018 May 10. Eur J Med Genet. 2018. PMID: 29753093
Epidemiology of achondroplasia: A population-based study in Europe.
Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I. Coi A, et al. Among authors: braz p. Am J Med Genet A. 2019 Sep;179(9):1791-1798. doi: 10.1002/ajmg.a.61289. Epub 2019 Jul 11. Am J Med Genet A. 2019. PMID: 31294928
EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomalies.
Morris JK, Garne E, Loane M, Barisic I, Densem J, Latos-Bieleńska A, Neville A, Pierini A, Rankin J, Rissmann A, de Walle H, Tan J, Given JE, Claridge H; EUROlinkCAT Consortium. Morris JK, et al. BMJ Open. 2021 Jun 28;11(6):e047859. doi: 10.1136/bmjopen-2020-047859. BMJ Open. 2021. PMID: 34183346 Free PMC article.
Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study.
Sinclair M, McCullough JEM, Elliott D, Braz P, Cavero-Carbonell C, Dornan L, Jamry-Dziurla A, João Santos A, Latos-Bieleńska A, Machado A, Páramo-Rodríguez L. Sinclair M, et al. Among authors: braz p. JMIR Pediatr Parent. 2021 Nov 15;4(4):e18483. doi: 10.2196/18483. JMIR Pediatr Parent. 2021. PMID: 34779778 Free PMC article.
35 results