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Items: 1 to 20 of 119

1.

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.

Garne E, Rissmann A, Addor MC, Barisic I, Bergman J, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rouget F, Schaub B, Tucker D, Verellen-Dumoulin C, Wellesley D, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Morris JK.

Eur J Med Genet. 2018 May 9. pii: S1769-7212(18)30149-6. doi: 10.1016/j.ejmg.2018.05.010. [Epub ahead of print]

PMID:
29753093
2.

Trends in congenital anomalies in Europe from 1980 to 2012.

Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L, Barisic I, Bergman JEH, Csaky-Szunyogh M, Dias C, Draper ES, Garne E, Gatt M, Khoshnood B, Klungsoyr K, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Kurinczuk J, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H.

PLoS One. 2018 Apr 5;13(4):e0194986. doi: 10.1371/journal.pone.0194986. eCollection 2018.

3.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA.

Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27.

PMID:
29180823
4.

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

Boyle B, Addor MC, Arriola L, Barisic I, Bianchi F, Csáky-Szunyogh M, de Walle HEK, Dias CM, Draper E, Gatt M, Garne E, Haeusler M, Källén K, Latos-Bielenska A, McDonnell B, Mullaney C, Nelen V, Neville AJ, 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.

Arch Dis Child Fetal Neonatal Ed. 2018 Jan;103(1):F22-F28. doi: 10.1136/archdischild-2016-311845. Epub 2017 Jun 30.

5.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Hensman Moss DJ, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ.

Lancet Neurol. 2017 Sep;16(9):701-711. doi: 10.1016/S1474-4422(17)30161-8. Epub 2017 Jun 20.

PMID:
28642124
6.

Attentional impairments in Huntington's disease: A specific deficit for the executive conflict.

Maurage P, Heeren A, Lahaye M, Jeanjean A, Guettat L, Verellen-Dumoulin C, Halkin S, Billieux J, Constant E.

Neuropsychology. 2017 May;31(4):424-436. doi: 10.1037/neu0000321. Epub 2017 Feb 27.

PMID:
28240935
7.

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.

8.

Clinical manifestations of intermediate allele carriers in Huntington disease.

Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo C; European HD Network.

Neurology. 2016 Aug 9;87(6):571-8. doi: 10.1212/WNL.0000000000002944. Epub 2016 Jul 8.

PMID:
27402890
9.

Use of hierarchical models to analyze European trends in congenital anomaly prevalence.

Cavadino A, Prieto-Merino D, Addor MC, Arriola L, Bianchi F, Draper E, Garne E, Greenlees R, Haeusler M, Khoshnood B, Kurinczuk J, McDonnell B, Nelen V, O'Mahony M, Randrianaivo H, Rankin J, Rissmann A, Tucker D, Verellen-Dumoulin C, de Walle H, Wellesley D, Morris JK.

Birth Defects Res A Clin Mol Teratol. 2016 Jun;106(6):480-8. doi: 10.1002/bdra.23515.

PMID:
27301561
10.

Dissociating emotional and cognitive empathy in pre-clinical and clinical Huntington's disease.

Maurage P, Lahaye M, Grynberg D, Jeanjean A, Guettat L, Verellen-Dumoulin C, Halkin S, Heeren A, Billieux J, Constant E.

Psychiatry Res. 2016 Mar 30;237:103-8. doi: 10.1016/j.psychres.2016.01.070. Epub 2016 Jan 28.

PMID:
26869362
11.

Long term trends in prevalence of neural tube defects in Europe: population based study.

Khoshnood B, Loane M, de Walle H, Arriola L, Addor MC, Barisic I, Beres J, Bianchi F, Dias C, Draper E, Garne E, Gatt M, Haeusler M, Klungsoyr K, Latos-Bielenska A, Lynch C, McDonnell B, Nelen V, Neville AJ, O'Mahony MT, Queisser-Luft A, Rankin J, Rissmann A, Ritvanen A, Rounding C, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H.

BMJ. 2015 Nov 24;351:h5949. doi: 10.1136/bmj.h5949.

12.

The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe: An Ecological Time Series Study.

Luteijn JM, Addor MC, Arriola L, Bianchi F, Garne E, Khoshnood B, Nelen V, Neville A, Queisser-Luft A, Rankin J, Rounding C, Verellen-Dumoulin C, de Walle H, Wellesley D, Wreyford B, Yevtushok L, de Jong-van den Berg L, Morris J, Dolk H.

Epidemiology. 2015 Nov;26(6):853-61. doi: 10.1097/EDE.0000000000000372.

PMID:
26327589
13.

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.

14.

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.

Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3.

15.

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
16.

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I.

Am J Med Genet A. 2014 May;164A(5):1289-92. doi: 10.1002/ajmg.a.36442. Epub 2014 Mar 24. Review.

PMID:
24664873
17.

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.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):260-9. doi: 10.1002/bdra.23231. Epub 2014 Mar 17.

PMID:
24639385
18.

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Nguyen HP.

PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013.

19.

Suicidal ideation in a European Huntington's disease population.

Hubers AA, van Duijn E, Roos RA, Craufurd D, Rickards H, Bernhard Landwehrmeyer G, van der Mast RC, Giltay EJ; REGISTRY investigators of the European Huntington's Disease Network.

J Affect Disord. 2013 Oct;151(1):248-58. doi: 10.1016/j.jad.2013.06.001. Epub 2013 Jul 20.

20.

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.

Am J Med Genet A. 2013 May;161A(5):1012-8. doi: 10.1002/ajmg.a.35839. Epub 2013 Mar 26.

PMID:
23532946

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