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Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.
Santoro M, Coi A, Barišić I, Pierini A, Addor MC, Baldacci S, Ballardini E, Boban L, Braz P, Cavero-Carbonell C, de Walle HEK, Draper ES, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Materna-Kiryluk A, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Zymak-Zakutnia N, Garne E. Santoro M, et al. Among authors: boban l. Paediatr Perinat Epidemiol. 2021 Sep;35(5):530-539. doi: 10.1111/ppe.12776. Epub 2021 Jun 16. Paediatr Perinat Epidemiol. 2021. PMID: 34132407
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: boban l. 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 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: boban l. 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
Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.
Santoro M, Coi A, Barišić I, Garne E, Addor MC, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Kinsner-Ovaskainen A, Klungsøyr K, Kurinczuk JJ, Lelong N, Luyt K, Materna-Kiryluk A, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Yevtushok L, Pierini A. Santoro M, et al. Among authors: boban l. Neuroepidemiology. 2019;53(3-4):169-179. doi: 10.1159/000501238. Epub 2019 Jul 12. Neuroepidemiology. 2019. PMID: 31302658
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.
Holt Oram syndrome: a registry-based study in Europe.
Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor MC, Arriola L, Bergman JE, Braz P, Budd JL, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, McDonnell B, Nelen V, Pierini A, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, Dolk H. Barisic I, et al. Among authors: boban l. Orphanet J Rare Dis. 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y. Orphanet J Rare Dis. 2014. PMID: 25344219 Free PMC article.
Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.
Barisic I, Boban L, Akhmedzhanova D, Bergman JEH, Cavero-Carbonell C, Grinfelde I, Materna-Kiryluk A, Latos-Bieleńska A, Randrianaivo H, Zymak-Zakutnya N, Sansovic I, Lanzoni M, Morris JK. Barisic I, et al. Among authors: boban l. Eur J Med Genet. 2018 Sep;61(9):499-507. doi: 10.1016/j.ejmg.2018.05.014. Epub 2018 May 31. Eur J Med Genet. 2018. PMID: 29753922
16 results