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213 results

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Page 1
Fraser syndrome: epidemiological study in a European population.
Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S, Boyd PA, Draper ES, Gatt M, Haeusler M, Khoshnood B, Latos-Bielenska A, McDonnell B, Pierini A, Rankin J, Rissmann A, Queisser-Luft A, Verellen-Dumoulin C, Stone D, Tenconi R. Barisic I, et al. Among authors: calzolari e. Am J Med Genet A. 2013 May;161A(5):1012-8. doi: 10.1002/ajmg.a.35839. Epub 2013 Mar 26. Am J Med Genet A. 2013. PMID: 23532946
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Among authors: calzolari e. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.
Recent decrease in the prevalence of congenital heart defects in Europe.
Khoshnood B, Loane M, Garne E, Addor MC, Arriola L, Bakker M, Barisic I, Bianca S, Boyd P, Calzolari E, Doray B, Draper E, Gatt M, Haeusler M, Melve KK, Latos-Bielenska A, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Salvador J, Tucker D, Verellen-Dumoulin C, Wellesley D, Zymak-Zakutnya N, Dolk H. Khoshnood B, et al. Among authors: calzolari e. J Pediatr. 2013 Jan;162(1):108-13.e2. doi: 10.1016/j.jpeds.2012.06.035. Epub 2012 Jul 24. J Pediatr. 2013. PMID: 22835879
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S, Doray B, Khoshnood B, Klungsoyr K, McDonnell B, Pierini A, Rankin J, Rissmann A, Rounding C, Queisser-Luft A, Scarano G, Tucker D. Barisic I, et al. Among authors: calzolari e. Eur J Hum Genet. 2014 Aug;22(8):1026-33. doi: 10.1038/ejhg.2013.287. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398798 Free PMC article.
Seasonality of congenital anomalies in Europe.
Luteijn JM, Dolk H, Addor MC, Arriola L, Barisic I, Bianchi F, Calzolari E, Draper E, Garne E, Gatt M, Haeusler M, Khoshnood B, McDonnell B, Nelen V, O'Mahony M, Mullaney C, Queisser-Luft A, Rankin J, Tucker D, Verellen-Dumoulin C, de Walle H, Yevtushok L. Luteijn JM, et al. Among authors: calzolari e. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):260-9. doi: 10.1002/bdra.23231. Epub 2014 Mar 17. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24639385
Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study.
Calzolari E, Barisic I, Loane M, Morris J, Wellesley D, Dolk H, Addor MC, Arriola L, Bianchi F, Neville AJ, Budd JL, Klungsoyr K, Khoshnood B, McDonnell B, Nelen V, Queisser-Luft A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, de Walle H, Garne E. Calzolari E, et al. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):270-6. doi: 10.1002/bdra.23240. Epub 2014 Apr 11. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24723551
Hirschsprung's disease prevalence in Europe: a register based study.
Best KE, Addor MC, Arriola L, Balku E, Barisic I, Bianchi F, Calzolari E, Curran R, Doray B, Draper E, Garne E, Gatt M, Haeusler M, Bergman J, Khoshnood B, Klungsoyr K, Martos C, Materna-Kiryluk A, Matias Dias C, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wellesley D, Zymak-Zakutnia N, Rankin J. Best KE, et al. Among authors: calzolari e. Birth Defects Res A Clin Mol Teratol. 2014 Sep;100(9):695-702. doi: 10.1002/bdra.23269. Epub 2014 Jul 26. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25066220
Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.
McGivern MR, Best KE, Rankin J, Wellesley D, Greenlees R, Addor MC, Arriola L, de Walle H, Barisic I, Beres J, Bianchi F, Calzolari E, Doray B, Draper ES, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Latos-Bielenska A, O'Mahony M, Braz P, McDonnell B, Mullaney C, Nelen V, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wertelecki W, Martos C. McGivern MR, et al. Among authors: calzolari e. Arch Dis Child Fetal Neonatal Ed. 2015 Mar;100(2):F137-44. doi: 10.1136/archdischild-2014-306174. Epub 2014 Nov 19. Arch Dis Child Fetal Neonatal Ed. 2015. PMID: 25411443
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.
Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, Garne E, Khoshnood B, Doray B, Rissmann A, Mullaney C, Calzolari E, Bakker M, Salvador J, Addor MC, Draper E, Rankin J, Tucker D. Wellesley D, et al. Among authors: calzolari e. Eur J Hum Genet. 2012 May;20(5):521-6. doi: 10.1038/ejhg.2011.246. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234154 Free PMC article.
Holt Oram syndrome: a registry-based study in Europe.
Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor MC, Arriola L, Bergman JE, Braz P, Budd JL, 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. Barisic I, et al. Among authors: calzolari e. Orphanet J Rare Dis. 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y. Orphanet J Rare Dis. 2014. PMID: 25344219 Free PMC article.
213 results