http://www.cnr.it/ontology/cnr/individuo/prodotto/ID23965

Frequency of Holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for Population Variations (Articolo in rivista)

Type

Prodotto della ricerca (Classe)
Articolo in rivista (Classe)

Label

Frequency of Holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for Population Variations (Articolo in rivista) (literal)

Anno

2008-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1002/bdra.20479 (literal)

Alternative label

Emanuele Leoncini, 1; Giovanni Baranello, 2; Iêda M. Orioli, 3; Göran Annerén, 4; Marian Bakker, 5; Fabrizio Bianchi, 6; Carol Bower, 7; Mark A. Canfield, 8; Eduardo E. Castilla, 3; Guido Cocchi, 9; Adolfo Correa, 10; Catherine De Vigan, 11; Berenice Doray, 12; Marcia L. Feldkamp, 13; Miriam Gatt, 14; Lorentz M. Irgens, 15; R. Brian Lowry, 16; Alice Maraschini, 1; Robert Mc Donnell, 17; Margery Morgan, 18; Osvaldo Mutchinick, 19, Simone Poetzsch, 20; Merilyn Riley, 21; Annukka Ritvanen, 22; Elisabeth Robert Gnansia, 23; Gioacchino Scarano, 24; Antonin Sipek, 25; Romano Tenconi, 26; Pierpaolo Mastroiacovo, 1; (2008)
Frequency of Holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for Population Variations
in Birth defects research. Part A. Clinical and molecular teratology (Online); Wiley-Liss, New York (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Emanuele Leoncini, 1; Giovanni Baranello, 2; Iêda M. Orioli, 3; Göran Annerén, 4; Marian Bakker, 5; Fabrizio Bianchi, 6; Carol Bower, 7; Mark A. Canfield, 8; Eduardo E. Castilla, 3; Guido Cocchi, 9; Adolfo Correa, 10; Catherine De Vigan, 11; Berenice Doray, 12; Marcia L. Feldkamp, 13; Miriam Gatt, 14; Lorentz M. Irgens, 15; R. Brian Lowry, 16; Alice Maraschini, 1; Robert Mc Donnell, 17; Margery Morgan, 18; Osvaldo Mutchinick, 19, Simone Poetzsch, 20; Merilyn Riley, 21; Annukka Ritvanen, 22; Elisabeth Robert Gnansia, 23; Gioacchino Scarano, 24; Antonin Sipek, 25; Romano Tenconi, 26; Pierpaolo Mastroiacovo, 1; (literal)

Pagina inizio

585 (literal)

Pagina fine

591 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

http://onlinelibrary.wiley.com/doi/10.1002/bdra.20479/abstract (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

82 (literal)

Rivista

Birth defects research. Part A. Clinical and molecular teratology (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

search, Guardamangia, Malta, Medical Birth Registry of Norway, Department of Public Health and Primary Care, University of Bergen and the Norwegian Institute of Public Health, Bergen, Norway, Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada, Population Health Directorate, HSE, Dr. Steevens Hospital, Dublin, Ireland, Congenital Anomaly Register and Information Service (CARIS), Singleton Hospital, Swansea, Wales, United Kingdom, RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico, Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke Universi (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

7 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

8 (literal)

Note

PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

1, Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Roma, Italy; 2, Istituto di Neuropsichiatria Infantile, Universita` Cattolica Sacro Cuore, Roma, Italy; 3, ECLAMC at Dept. Gene ?tica, Universidade Federal do Rio de Janeiro, Brazil; 4, Department of Clinical Genetics, Uppsala University, Uppsala and Swedish Births Defects Registry, Stockholm, Sweden; 5, EUROCAT Northern Netherlands, Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands; 6, Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del CNR, Pisa, Italy; 7, Western Australian Birth Defects Registry (WABDR), Women and Newborn Health Service, Subiaco, Western Australia; 8, Texas Birth Defects Epidemiology & Surveillance Branch, Austin, Texas; 9, Istituto Clinico di Pediatria Preventiva e Neonatologia, Universita` di Bologna, Bologna, Italy; 10, Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia; 11, Registre des malformations congenitales de Paris, INSERM U 149, Recherches epidemiologiques en sante perinatale et sante des femmes, Villejuif, France; 12, Service de Genetique Medicale, Hopital de Hautepierre, Strasbourg, France; 13, Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah; 14, Malta Congenital Anomalies Registry, Department of Health Information and Research, Guardamangia, Malta; 15, Medical Birth Registry of Norway, Department of Public Health and Primary Care, University of Bergen and the Norwegian Institute of Public Health, Bergen, Norway; 16, Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada; 17, Population Health Directorate, HSE, Dr. Steevens Hospital, Dublin, Ireland; 18, Congenital Anomaly Register and Information Service (CARIS), Singleton Hospital, Swansea, Wales, United Kingdom; 19, RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico; 20, Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University, Magdeburg, Germany; 21, Victorian Birth Defects Register, Perinatal Data Collection Unit, Department of Human Services, Victoria, Australia; 22, National Research and Development Centre for Welfare and Health (STAKES), Helsinki, Finland; 23, REMERA, Registre des Malformations en Rhone Alpes, Faculte Laennec, Lyon, France; 24, Birth Defects Campania Registry, Medical Genetics Dept., General Hospital ''G. Rummo'' Benevento, Italy; 25, Department of Population Teratology, Institute for Care of Mother and Child, Prague, Czech Republic; 26, Dipartimento di Pediatria, Genetica Clinica ed Epidemiologica, Universita`di Padova, Padova, Italy. (literal)

Titolo

Frequency of Holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for Population Variations (literal)

Abstract

BACKGROUND: Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median maxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. METHODS: We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. RESULTS: A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. CONCLUSIONS: The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses. Birth Defects Research (Part A) 82:585-591, 2008 (literal)

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