Angeborene körperliche Anomalien: Epidemiologie

Autor: Annette Queißer-Wahrendorf

Publikováno v: Pädiatrie ISBN: 9783662602997
Pädiatrie ISBN: 9783642546716

In Deutschland werden bei etwa jedem 15. Neugeborenen grose Fehlbildungen (z. B. Spina bifida, Lippen-Kiefer-Gaumen-Spalte) diagnostiziert, ungefahr ein Funftel davon sind schwer und lebensbedrohlich. Kinder mit angeborenen Fehlbildungen machen etwa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f836fc8b590393d9dd672f80c3cd1e49
https://doi.org/10.1007/978-3-662-60300-0_43

Evidence for a teratogenic risk in the offspring of health personnel exposed to ionizing radiation?!

Autor: Awi Wiesel, Annette Queisser-Wahrendorf, Gabriela Stolz

Publikováno v: Birth Defects Research Part A: Clinical and Molecular Teratology. 106:475-479

Background The evidence concerning safety of occupational exposure to ionizing radiation on teratogenic effects mainly relies on animal models, disaster epidemiology and experience in cancer etiology. Following an explorative result on maternal expos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b8c1b874c8380fa85cb9ea3203aa9616
https://doi.org/10.1002/bdra.23532

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

Autor: Vera Nelen, Hermien E. K. de Walle, Anke Rissmann, Ben Wreyford, Larraitz Arriola, Anna Latos-Bielenska, Carmel Mullaney, Christine Verellen-Dumoulin, Mary O'Mahony, Annukka Ritvanen, Breidge Boyle, Annette Queisser-Wahrendorf, Martin Haeusler, Natalia Zymak-Zakutnia, Elizabeth S Draper, Judith Rankin, Amanda J. Neville, Karin Källén, Marie-Claude Addor, Helen Dolk, David Tucker, Miriam Gatt, Hanitra Randrianaivo, Carlos Matias Dias, Diana Wellesley, Catherine Rounding, Bob McDonnell, Ester Garne, Ingeborg Barišić, Melinda Csáky-Szunyogh, Fabrizio Bianchi

Publikováno v: ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 103(1), F22-F28. BMJ PUBLISHING GROUP
Archives of Disease in Childhood. Fetal and Neonatal Edition
Boyle, B, Addor, M-C, Arriola, L, Barisic, I, Bianchi, F, Csáky-Szunyogh, M, de Walle, H E K, Dias, C M, Draper, E, Gatt, M, Garne, E, Haeusler, M, Källén, K, Latos-Bielenska, A, McDonnell, B, Mullaney, C, Nelen, V, Neville, A J, O'Mahony, M, Queisser-Wahrendorf, A, Randrianaivo, H, Rankin, J, Rissmann, A, Ritvanen, A, Rounding, C, Tucker, D, Verellen-Dumoulin, C, Wellesley, D, Wreyford, B, Zymak-Zakutnia, N & Dolk, H 2018, ' Estimating Global Burden of Disease due to congenital anomaly : an analysis of European data ', Archives of Disease in Childhood, vol. 103, no. 1, pp. F22-F28 . https://doi.org/10.1136/archdischild-2016-311845
Boyle, B, Addor, M-C, Arriola, L, Barisic, I, Bianchi, F, Csáky-Szunyogh, M, de Walle, H E K, Dias, C M, Draper, E, Gatt, M, Garne, E, Haeusler, M, Källén, K, Latos-Bielenska, A, McDonnell, B, Mullaney, C, Nelen, V, Neville, A J, O'Mahony, M, Queisser-Wahrendorf, A, Randrianaivo, H, Rankin, J, Rissmann, A, Ritvanen, A, Rounding, C, Tucker, D, Verellen-Dumoulin, C, Wellesley, D, Wreyford, B, Zymak-Zakutnia, N & Dolk, H 2017, ' Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data ', Archives of Disease in Childhood-Fetal and Neonatal Edition, vol. 103, pp. f22 . https://doi.org/10.1136/archdischild-2016-311845
Archives of disease in childhood. Fetal and neonatal edition, vol. 103, no. 1, pp. F22-F28

ObjectiveTo validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbi

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https://www.bib.irb.hr/1170355

Holt Oram syndrome

Autor: Ljubica Boban, Helen Dolk, Judith L. S. Budd, Christine Verellen-Dumoulin, Larraitz Arriola, Vera Nelen, Annette Queisser-Wahrendorf, Paula Braz, Kari Klungsøyr, Anna Pierini, Anke Rissmann, David Tucker, Marie-Claude Addor, Martin Haeusler, Diana Wellesley, Miriam Gatt, Catherine Rounding, Ingeborg Barišić, Elisa Calzolari, Ruth Greenlees, Bob McDonnell, Ester Garne, Judith Rankin, Babak Khoshnood, Jorieke E. H. Bergman

Publikováno v: Orphanet journal of rare diseases, 9:156. BMC
Orphanet Journal of Rare Diseases, vol. 9, no. 1, pp. 156
Orphanet Journal of Rare Diseases
Barisic, I, Boban, L, Greenlees, R, Garne, E, Wellesley, D, Calzolari, E, Addor, M-C, Arriola, L, Bergman, J E, Braz, P, Budd, J L, 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 2014, ' Holt Oram syndrome: a registry-based study in Europe ', Orphanet Journal of Rare Diseases, vol. 9, pp. 156 . https://doi.org/10.1186/s13023-014-0156-y

BACKGROUND: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbbb5e0cc255fc4feee4a1186486e2bb
https://doi.org/10.1186/s13023-014-0156-y

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe : impact of maternal age and prenatal screening

Autor: Catherine Rounding, Judith L. S. Budd, Maria Loane, Bob McDonnell, Ester Garne, Babak Khoshnood, Larraitz Arriola, Marie-Claude Addor, Kari Klungsøyr Melve, Diana Wellesley, Joaquin Salvador, Carmel Mullaney, Helen Dolk, Annette Queißer-Wahrendorf, Anna Latos-Bielenska, Lyubov Yevtushok, Bérénice Doray, David Tucker, Judith Rankin, Miriam Gatt, Joan K. Morris, Martin Haeusler, Mary O'Mahony, Anke Rissmann

Publikováno v: Loane, M, Morris, J K, Addor, M-C, Arriola, L, Budd, J, Doray, B, Garne, E, Gatt, M, Haeusler, M, Khoshnood, B, Klungsøyr Melve, K, Latos-Bielenska, A, McDonnell, B, Mullaney, C, O'Mahony, M, Queißer-Wahrendorf, A, Rankin, J, Rissmann, A, Rounding, C, Salvador, J, Tucker, D, Wellesley, D, Yevtushok, L & Dolk, H 2013, ' Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe : impact of maternal age and prenatal screening ', European Journal of Human Genetics, vol. 21, pp. 27-33 . https://doi.org/10.1038/ejhg.2012.94
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d070fd06fa04d3b3c8e8dc442dba727
https://www.um.edu.mt/library/oar/handle/123456789/49319