European Platform on Rare Disease Registration

Publications (870)

Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators

Best KE, Rankin J, Dolk H, Loane M, Haeusler M, Nelen V, Verellen-Dumoulin C, Garne E, Sayers G, Mullaney C, O'Mahony MT, Gatt M, De Walle H, Klungsoyr K, Carolla OM, Cavero-Carbonell C, Kurinczuk JJ, Draper ES, Tucker D, Wellesley D, Zymak-Zakutnia N, Lelong N, Khoshnood B
Paediatr Perinat Epidemiol, 2020 , Mar;34: (2) 122 - 129
Subjects: congenital anomaly-related perinatal mortality, TOPFA, prenatal diagnosis prevalence
Anomalies: congenital anomalies

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

van de Putte, R., van Rooij, I. A. L. M., Marcelis, C. L. M., Guo, M., Brunner, H. G., Addor, M-C., Cavero-Carbonell, C., Dias, C. M., Draper, E. S., Etxebarriarteun, L., Gatt, M., Haeusler, M., Khoshnood, B., Klungsoyr, K., Kurinczuk, J. J., Lanzoni, M., Latos-Bielenska, A., Luyt, K., O'Mahony, M. T., Miller, N., Mullaney, C., Nelen, V., Neville, A. J., Perthus, I., Pierini, A., Randrianaivo, H., Rankin, J., Rissmann, A., Rouget, F., Schaub, B., Tucker, D., Wellesley, D., Wiesel, A., Zymak-Zakutnia, N., Loane, M., Barisic, I., de Walle, H. E. K., Roeleveld, N. & Bergman, J. E. H
Pediatric Research, 2020 , Feb-2020, 87: (3) 541 - 549
Subjects: congenital anomalies, VACTERL subtypes, STRICT-VACTERL, VACTERL-LIKE, VACTERL-PLUS
Anomalies: congenital anomalies

Analysis of mortality among neonates and children with spina bifida: An international registry-based study, 2001-2012

Bakker MK, Kancherla V, Canfield MA, Bermejo-Sanchez E, Cragan JD, Dastgiri S, De Walle HEK, Feldkamp ML, Groisman B, Gatt M, Hurtado-Villa P, Kallen K, Landau D, Lelong N, Lopez Camelo JS, Martínez L, Morgan M, Mutchinick OM, Nembhard WN, Pierini A, Sipek A, Rissmann A, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Mastroiacovo P
Paediatr Perinat Epidemiol, 2019 , Nov;33: (6) 436 - 448
Subjects: epidemiology; mortality; registry-based study; spina bifida
Anomalies: spina bifida

Cohort Profile: The Dutch Perined-Lifelines birth cohort

Salavati N, Bakker MK, van der Beek EM, Erwich JHM
PLoS One, 2019 , Dec 5;14(12):e0225973:
Subjects: birth cohort, dietary intake

Congenital anomalies in the offspring of occupationally exposed mothers: a systematic review and meta-analysis of studies using expert assessment for occupational exposures

Spinder N, Prins JR, Bergman JEH, Smidt N, Kromhout H, Boezen HM, de Walle HEK
Hum Reprod. , 2019 , May 1;34: (5) 903 - 919
Subjects: congenital anomalies; maternal; metals; occupational exposure; offspring; pesticides; preconception; solvents
Anomalies: congenital anomalies

Congenital clubfoot in Europe: A population-based study

Wang H, Barisic I, Loane M, Addor MC, Bailey LM, Gatt M, Klungsoyr K, Mokoroa O, Nelen V, Neville AJ, O'Mahony M, Pierini A, Rissmann A, Verellen-Dumoulin C, de Walle HEK, Wiesel A, Wisniewska K7, de Jong-van den Berg LTW, Dolk H, Khoshnood B, Garne E
Am J Med Genet A, 2019 , Apr;179: (4) 595 - 601
Subjects: associated anomalies; congenital lubfoot; prenatal diagnosis; prevalence; trend
Anomalies: associated anomalies

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
American Journal of Medical Genetics, 2019 , 179: (9) 1791 - 1798
Subjects: rare congenital anomalies, prevalence, prenatal diagnosis, associated anomalies
Anomalies: Achondroplasia

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

Morris JK, Wellesley DG, Barisic I, Addor MC, Bergman JEH, 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, Rissmann A, Rouget F, Schaub B, Tucker DF, Verellen-Dumoulin C, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Garne E
Arch Dis Child, 2019 , Dec;104: (12) 1181 - 1187
Subjects: congenital abnorm; epidemiology
Anomalies: congenital cerebral anomalies

EPIDEMIOLOGY OF DANDY-WALKER MALFORMATION IN EUROPE: A EUROCAT POPULATION-BASED REGISTRY STUDY

Michele Santoro, Alessio Coi, Ingeborg Barišić, Ester Garne, Marie-Claude Addor, Jorieke E.H. Bergman, Fabrizio Bianchi, Ljubica Boban, Paula Braz, Clara Cavero-Carbonell, Miriam Gatt, Martin Haeusler, Agnieszka Kinsner-Ovaskainen, Kari Klungsøyr, Jennifer J Kurinczuk, Nathalie Lelong, Karen Luyt, Anna Materna-Kiryluk, Olatz Mokoroa, Carmel Mullaney, Vera Nelen, Amanda J. Neville, Mary T. O’Mahony, Isabelle Perthus, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Bruno Schaub, David Tucker, Diana Wellesley, Lyubov Yevtushok, Anna Pierini
Neuroepidemiology, 2019 , 53: (3-4) 169 - 179
Subjects: rare congenital anomalies, prevalence, prenatal diagnosis, associated anomalies
Anomalies: Dandy-Walker malformation

EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990 - 2014

Monica Lanzoni, Agnieszka Kinsner-Ovaskainen, Joan Morris, Simona Martin
2019
Anomalies: Down syndrome