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Items: 1 to 20 of 131

1.

Descriptive epidemiology of Cornelia de Lange syndrome in Europe.

Barisic I, Tokic V, Loane M, Bianchi F, Calzolari E, Garne E, Wellesley D, Dolk H; EUROCAT Working Group.

Am J Med Genet A. 2008 Jan 1;146A(1):51-9.

PMID:
18074387
2.

The prevalence of congenital anomalies in Europe.

Dolk H, Loane M, Garne E.

Adv Exp Med Biol. 2010;686:349-64. doi: 10.1007/978-90-481-9485-8_20. Review.

PMID:
20824455
3.

Prenatal diagnosis of severe structural congenital malformations in Europe.

Garne E, Loane M, Dolk H, De Vigan C, Scarano G, Tucker D, Stoll C, Gener B, Pierini A, Nelen V, Rösch C, Gillerot Y, Feijoo M, Tincheva R, Queisser-Luft A, Addor MC, Mosquera C, Gatt M, Barisic I.

Ultrasound Obstet Gynecol. 2005 Jan;25(1):6-11.

4.

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.

Am J Med Genet A. 2015 Dec;167A(12):3062-9. doi: 10.1002/ajmg.a.37355. Epub 2015 Sep 8.

PMID:
26347425
5.

Paper 1: The EUROCAT network--organization and processes.

Boyd PA, Haeusler M, Barisic I, Loane M, Garne E, Dolk H.

Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1:S2-15. doi: 10.1002/bdra.20780. Epub 2011 Mar 7. Review.

PMID:
21384531
6.

Paper 2: EUROCAT public health indicators for congenital anomalies in Europe.

Khoshnood B, Greenlees R, Loane M, Dolk H; EUROCAT Project Management Committee; EUROCAT Working Group.

Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1:S16-22. doi: 10.1002/bdra.20776. Epub 2011 Mar 4. Review.

7.

Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions.

Pedersen RN, Calzolari E, Husby S, Garne E; EUROCAT Working group.

Arch Dis Child. 2012 Mar;97(3):227-32. doi: 10.1136/archdischild-2011-300597. Epub 2012 Jan 13.

PMID:
22247246
8.

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.

Eur J Hum Genet. 2014 Aug;22(8):1026-33. doi: 10.1038/ejhg.2013.287. Epub 2014 Jan 8.

9.

Associated congenital anomalies among cases with Down syndrome.

Stoll C, Dott B, Alembik Y, Roth MP.

Eur J Med Genet. 2015 Dec;58(12):674-80. doi: 10.1016/j.ejmg.2015.11.003. Epub 2015 Nov 11.

PMID:
26578241
10.

[Prevalence and secular trend of congenital defects in Asturias, Spain. The need for clinical-epidemiological surveillance].

Mosquera Tenreiro C, Riaño Galán I, Rodríguez Dehli C, Fernández Toral J, Moro Bayón C, Rodríguez Fernández A, Suárez Menéndez ME, García López E, Ariza Hevia F.

Gac Sanit. 2009 Jul-Aug;23(4):300-5. doi: 10.1016/j.gaceta.2008.06.009. Epub 2009 Mar 25. Spanish.

11.

Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007.

Boyle B, McConkey R, Garne E, Loane M, Addor MC, Bakker MK, Boyd PA, Gatt M, Greenlees R, Haeusler M, Klungsøyr K, Latos-Bielenska A, Lelong N, McDonnell R, Métneki J, Mullaney C, Nelen V, O'Mahony M, Pierini A, Rankin J, Rissmann A, Tucker D, Wellesley D, Dolk H.

BJOG. 2013 May;120(6):707-16. doi: 10.1111/1471-0528.12146. Epub 2013 Feb 6.

12.

Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies.

Loane M, Dolk H, Garne E, Greenlees R; EUROCAT Working Group.

Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1:S23-30. doi: 10.1002/bdra.20779. Epub 2011 Mar 7. Review.

PMID:
21384530
13.

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.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):270-6. doi: 10.1002/bdra.23240. Epub 2014 Apr 11.

PMID:
24723551
14.

[Prevalence and prenatal diagnosis of congenital malformations in the Parisian population: twenty years of surveillance by the Paris Registry of congenital malformations].

De Vigan C, Khoshnood B, Lhomme A, Vodovar V, Goujard J, Goffinet F.

J Gynecol Obstet Biol Reprod (Paris). 2005 Feb;34(1 Pt 1):8-16. French.

15.

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):305-20. doi: 10.1002/ajmg.c.30320. Epub 2011 Oct 14. Review.

16.

Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.

Morris JK, Garne E, Wellesley D, Addor MC, Arriola L, Barisic I, Beres J, Bianchi F, Budd J, Dias CM, Gatt M, Klungsoyr K, Khoshnood B, Latos-Bielenska A, Mullaney C, Nelen V, Neville AJ, O'Mahony M, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Rounding C, Sipek A, Stoianova S, Tucker D, de Walle H, Yevtushok L, Loane M, Dolk H.

Am J Med Genet A. 2014 Dec;164A(12):2979-86. doi: 10.1002/ajmg.a.36780. Epub 2014 Sep 24.

PMID:
25257471
17.

Paper 6: EUROCAT member registries: organization and activities.

Greenlees R, Neville A, Addor MC, Amar E, Arriola L, Bakker M, Barisic I, Boyd PA, Calzolari E, Doray B, Draper E, Vollset SE, Garne E, Gatt M, Haeusler M, Kallen K, Khoshnood B, Latos-Bielenska A, Martinez-Frias ML, Materna-Kiryluk A, Dias CM, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo-Ranjatoélina H, Rankin J, Rissmann A, Ritvanen A, Salvador J, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, Wertelecki W.

Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1:S51-S100. doi: 10.1002/bdra.20775. Epub 2011 Mar 4. Review.

PMID:
21381185
18.

[Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations].

Šípek A, Gregor V, Horáček J, Šípek A Jr, Langhammer P.

Epidemiol Mikrobiol Imunol. 2013 Sep;62(3):112-28. Czech.

PMID:
24116699
19.

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.

Orphanet J Rare Dis. 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y.

20.

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.

BMJ. 2016 Sep 13;354:i4721. doi: 10.1136/bmj.i4721.

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