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Page 1
Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.
Dubucs C, Caillet A, Frémont F, Delteil L, N'Go V, Neville AJ, Ballardini E, Dolk H, Loane M, Garne E, Khoshnood B, Lelong N, Rissmann A, O'Mahony M, Pierini A, Gatt M, Bergman J, Krawczynski MR, Latos Bielenska A, Echevarría González de Garibay LJ, Cavero-Carbonell C, Addor MC, Tucker D, Jordan S, Den Hond E, Nelen V, Barisic I, Rouget F, Randrianaivo H, Hoareau J, Perthus I, Hurault-Delarue C, Courtade-Saïdi M, Damase-Michel C. Dubucs C, et al. Among authors: echevarria gonzalez de garibay lj. Birth Defects Res. 2024 Nov;116(11):e2414. doi: 10.1002/bdr2.2414. Birth Defects Res. 2024. PMID: 39582415 Free PMC article.
Surveillance of multiple congenital anomalies; searching for new associations.
Morris JK, Bergman JEH, Barisic I, Wellesley D, Tucker D, Limb E, Addor MC, Cavero-Carbonell C, Matias Dias C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Klungsøyr K, Lelong N, Luyt K, Materna-Kiryluk A, Nelen V, Neville A, Perthus I, Pierini A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Rouget F, Sayers G, Wertelecki W, Kinsner-Ovaskainen A, Garne E. Morris JK, et al. Among authors: echevarria gonzalez de garibay lj. Eur J Hum Genet. 2024 Apr;32(4):407-412. doi: 10.1038/s41431-023-01502-w. Epub 2023 Dec 5. Eur J Hum Genet. 2024. PMID: 38052905 Free PMC article. Review.
Maternal age and the prevalence of congenital heart defects in Europe, 1995-2015: A register-based study.
Mamasoula C, Bigirumurame T, Chadwick T, Addor MC, Cavero-Carbonell C, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Khoshnood B, Klungsoyr K, Randall K, Stoianova S, Haeusler M, Nelen V, Neville AJ, Perthus I, Pierini A, Bertaut-Nativel B, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Zymak-Zakutnia N, Barisic I, de Walle HEK, Lanzoni M, Sayers G, Mullaney C, Pennington L, Rankin J. Mamasoula C, et al. Among authors: echevarria gonzalez de garibay lj. Birth Defects Res. 2023 Apr 1;115(6):583-594. doi: 10.1002/bdr2.2152. Epub 2023 Feb 3. Birth Defects Res. 2023. PMID: 36734416
Amniotic band syndrome and limb body wall complex in Europe 1980-2019.
Bergman JEH, Barišić I, Addor MC, Braz P, Cavero-Carbonell C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Khoshnood B, Klungsøyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, Martin D, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Sayers G, Schaub B, Stevens S, Tucker D, Verellen-Dumoulin C, Wiesel A, Gerkes EH, Perraud A, Loane MA, Wellesley D, de Walle HEK. Bergman JEH, et al. Among authors: echevarria gonzalez de garibay lj. Am J Med Genet A. 2023 Apr;191(4):995-1006. doi: 10.1002/ajmg.a.63107. Epub 2022 Dec 30. Am J Med Genet A. 2023. PMID: 36584346
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.
Morris JK, Wellesley D, Limb E, Bergman JEH, Kinsner-Ovaskainen A, Addor MC, Broughan JM, Cavero-Carbonell C, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Barisic I, Klungsoyr K, Lelong N, Materna-Kiryluk A, Neville A, Nelen V, O'Mahony MT, Perthus I, Pierini A, Rankin J, Rissmann A, Rouget F, Sayers G, Stevens S, Tucker D, Garne E. Morris JK, et al. Among authors: echevarria gonzalez de garibay lj. Birth Defects Res. 2022 Dec 1;114(20):1417-1426. doi: 10.1002/bdr2.2122. Epub 2022 Nov 11. Birth Defects Res. 2022. PMID: 36369770 Free PMC article.
Prevalence of congenital heart defects in Europe, 2008-2015: A registry-based study.
Mamasoula C, Addor MC, Carbonell CC, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Khoshnood B, Klungsoyr K, Randall K, Stoianova S, Haeusler M, Nelen V, Neville AJ, Perthus I, Pierini A, Bertaut-Nativel B, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Zymak-Zakutnia N, Barisic I, de Walle HEK, Lanzoni M, Mullaney C, Pennington L, Rankin J. Mamasoula C, et al. Among authors: echevarria gonzalez de garibay lj. Birth Defects Res. 2022 Dec 1;114(20):1404-1416. doi: 10.1002/bdr2.2117. Epub 2022 Nov 8. Birth Defects Res. 2022. PMID: 36345679 Free PMC article.
The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases.
Rico J, Echevarría-González de Garibay LJ, García-López M, Guardiola-Vilarroig S, Maceda-Roldán LA, Zurriaga Ó, Cavero-Carbonell C. Rico J, et al. Among authors: echevarria gonzalez de garibay lj. Orphanet J Rare Dis. 2021 Mar 9;16(1):121. doi: 10.1186/s13023-021-01763-y. Orphanet J Rare Dis. 2021. PMID: 33750434 Free PMC article.