European Platform on Rare Disease Registration

Publications (863)

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
Paediatric and Perinatal Epidemiology, 2021
Subjects: rare congenital anomalies, prevalence, prenatal diagnosis, associated anomalies
Anomalies: Pierre-Robin sequence

Macrolide and lincosamide antibiotic exposure in the first trimester of pregnancy and risk of congenital anomaly: A European case-control study.

Aminkeng Zawuo Leke, Helen Dolk, Maria Loane, Karen Casson, Vera Nelen, Ingeborg Barišić, Ester Garne, Anke Rissman, Mary O’Mahony, Amanda J.Neville, Anna Pierini, Jorieke E.H. Bergman, Kari Klungsøyr, Anna Materna-Kiryluk, Anna Latos Bielenska, Clara Cavero Carbonell, Marie-Claude Addor, David Tucker.
Reproductive Toxicology, 2021 , 100: 101 - 108

Prevalence and Mortality among Children with Congenital Diaphragmatic Hernia, 1974-2015: A Multi-Country Analysis.

Maria D. Politis, Eva Bermejo-Sánchez, Mark A. Canfield, Paolo Contiero, Janet D. Cragan, Saeed Dastgiri, Hermien de Walle, Marcia Feldkamp, Amy Nance, Boris Groisman, Miriam Gatt, Adriana Benavides Lara, Paula Hurtado Villa, Kärin Kallén, Danielle Landau, Nathalie Lelong, Jorge Lopez-Camelo, Laura Martinez, MD, Margery Morgan, Osvaldo M. Mutchinick, Anna Pierini, Anke Rissmann, Antonin Šípek, Elena Szabova, Wladimir Wertelecki, Ignacio Zarante, Marian Bakker, Vijaya Kancherla, Pierpaolo Mastroiacovo, and Wendy N. Nembhard, for the International Clearinghouse for Birth Defects Surveillance and Research.
Annals of Epidemiology, 2021 , 56: 61 - 69
Anomalies: diaphragmatic hernia

Prevention of Neural Tube Defects in Europe: A Public Health Failure

Joan K. Morris, Marie-Claude Addor, Elisa Ballardini, Ingeborg Barisic, Laia Barrachina-Bonet, Paula Braz, Clara Cavero-Carbonell, Elly Den Hond, Ester Garne, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Nathalie Lelong, Agnieszka Kinsner-Ovaskainen, Sonja Kiuru-Kuhlefelt, Kari Klungsoyr, Anna Latos-Bielenska, Elizabeth Limb, Mary T O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Gerardine Sayers, Antonin Sipek Jr, Sarah Stevens, David Tucker, Christine Verellen-Dumoulin, Hermien E. K. de Walle, Diana Wellesley, Wladimir Wertelecki and Eva Bermejo-Sanchez
Frontier in Pediatrics, 2021
Subjects: folic acid, fortification, neural tube defects, spina bifida, anencephaly, primary prevention
Anomalies: neural tube defects, spina bifida, anencephaly

Sociodemographic Differences in Prenatal Diagnosis of Chromosomal Anomalies: A Population-Based Study

Michele Santoro, Lorena Mezzasalma, Alessio Coi, Silvia Baldacci, Lucia Pasquini and Anna Pierini
Frontiers in Pediatrics, 2021 , 9:
Subjects: chromosomal anomalies, prenatal diagnosis, socioeconomic status
Anomalies: chromosomal anomalies, Down syndrome

A multi-country study of prevalence and early childhood mortality among children with omphalocele

Nembhard WN, Bergman JEH, Politis MD, Arteaga-Vázquez J, Bermejo-Sánchez E, Canfield MA, Cragan JD, Dastgiri S, de Walle HEK, Feldkamp ML, Nance A, Gatt M, Groisman B, Hurtado-Villa P, Kallén K, Landau D, Lelong N, Lopez-Camelo J, Martinez L, Morgan M, Pierini A, Rissmann A, Šípek A, Szabova E, Tagliabue G, Wertelecki W, Zarante I, Bakker MK, Kancherla V, Mastroiacovo P
BDR online , 2020 , October:
Subjects: Omphalocele, associated anomalies, abdominal birth defect
Anomalies: Omphalocele

Etiological diagnosis in limb reduction defects and the number of affected limbs: a population-based study in the Northern Netherlands

Bergman JEH, Löhner K, van der Sluis CK, Rump P, de Walle HEK
AJMG part A online , 2020 , Sept :
Subjects: Limb reduction defects (LRDs)
Anomalies: congenital anomalies

Lifestyle and Socio-Demographic Risk Factors for Gastroschisis: A Systematic Review and Meta-Analysis

Baldacci S, Santoro M, Coi A, Mezzasalma L, Bianchi F, Pierini A
Archives of Diseases in Childhood, 2020 , 105: (8) 756 - 764
Subjects: prevention, lifestyle risk factors, socio-demographic risk factors
Anomalies: Gastroschisis

Maternal occupational exposure to solvents and gastroschisis in offspring - National Birth Defects Prevention Study 1997–2011

Spinder N, Almli LM, Desrosiers TA, Arnold EA, Bergman JEH, Kromhout H, Boezen HM, de Walle HEK, Rocheleau C, Reefhuis J
Occupational and Environmental Medicine , 2020 , Published Online First: 16 January 2020. doi: 10.1136/oemed-2019-106147:
Subjects: maternal occupational exposure to solvents and gastroschisis in offspring
Anomalies: gastroschisis

Maternal risk factors associated with the VACTERL association: a case-control study

van de Putte R, de Walle HEK, van Hooijdonk KJM, de Blaauw I, Marcelis CLM, van Heijst A, Giltay JC, Renkema KY, Broens PMA, Brosens E, Sloots CEJ, Bergman JEH, Roeleveld N, van Rooij ALM
Birth Defects Research, 2020 , July:
Subjects: VACTERL, risk factors
Anomalies: congenital anomalies: vertebral, anal, cardiac, tracheo‐esophageal, renal, limb anomalies