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Page 1
Surveillance of multiple congenital anomalies; searching for new associations.
Morris JK, Bergman JEH, Barisic I, Wellesley D, Tucker D, Limb E, Addor MC, Cavero-Carbonell C, Matias Dias C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Klungsøyr K, Lelong N, Luyt K, Materna-Kiryluk A, Nelen V, Neville A, Perthus I, Pierini A, Randrianaivo-Ranjatoelina H, Rankin J, Rissmann A, Rouget F, Sayers G, Wertelecki W, Kinsner-Ovaskainen A, Garne E. Morris JK, et al. Among authors: bergman jeh. Eur J Hum Genet. 2024 Apr;32(4):407-412. doi: 10.1038/s41431-023-01502-w. Epub 2023 Dec 5. Eur J Hum Genet. 2024. PMID: 38052905 Free PMC article. Review.
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. 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
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. 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.
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. 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
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. 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.
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. 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.
Epidemiology of hypospadias in Europe: a registry-based study.
Bergman JE, Loane M, Vrijheid M, Pierini A, Nijman RJ, Addor MC, Barisic I, Béres J, Braz P, Budd J, Delaney V, Gatt M, Khoshnood B, Klungsøyr K, Martos C, Mullaney C, Nelen V, Neville AJ, O'Mahony M, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Tucker D, Wellesley D, Zymak-Zakutnia N, Bakker MK, de Walle HE. Bergman JE, et al. World J Urol. 2015 Dec;33(12):2159-67. doi: 10.1007/s00345-015-1507-6. Epub 2015 Feb 25. World J Urol. 2015. PMID: 25712311 Free PMC article.
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.
Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, Bergman J, Cavero-Carbonell C, Csaky-Szunyogh M, Draper ES, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Lynch C, Dias CM, McDonnell R, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Rounding C, Stoianova S, Tuckerz D, Zymak-Zakutnia N, Morris JK. Springett A, et al. Am J Med Genet A. 2015 Dec;167A(12):3062-9. doi: 10.1002/ajmg.a.37355. Epub 2015 Sep 8. Am J Med Genet A. 2015. PMID: 26347425
Prevalence of microcephaly in Europe: population based study.
Morris JK, Rankin J, Garne E, Loane M, Greenlees R, Addor MC, Arriola L, Barisic I, Bergman JE, Csaky-Szunyogh M, Dias C, Draper ES, Gatt M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony MT, Pierini A, Randrianaivo H, Rissmann A, Tucker D, Verellen-Dumoulin C, de Walle HE, Wellesley D, Wiesel A, Dolk H. Morris JK, et al. BMJ. 2016 Sep 13;354:i4721. doi: 10.1136/bmj.i4721. BMJ. 2016. PMID: 27623840 Free PMC article.
76 results