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Items: 1 to 50 of 96

1.

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.

2.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Nguyen NMP, Khawajkie Y, Mechtouf N, Rezaei M, Breguet M, Kurvinen E, Jagadeesh S, Solmaz AE, Aguinaga M, Hemida R, Harma MI, Rittore C, Rahimi K, Arseneau J, Hovanes K, Clisham R, Lenzi T, Scurry B, Addor MC, Bagga R, Nendaz GG, Finci V, Poke G, Grimes L, Gregersen N, York K, Bolze PA, Patel C, Mozdarani H, Puechberty J, Scotchie J, Fardaei M, Harma M, Gardner RJM, Sahoo T, Dudding-Byth T, Srinivasan R, Sauthier P, Slim R.

Mod Pathol. 2018 Feb 20. doi: 10.1038/s41379-018-0031-9. [Epub ahead of print]

PMID:
29463882
3.

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study.

Bergman JEH, Lutke LR, Gans ROB, Addor MC, Barisic I, Cavero-Carbonell C, Garne E, Gatt M, Klungsoyr K, Lelong N, Lynch C, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rissmann A, Tucker D, Wiesel A, Dolk H, Loane M, Bakker MK.

Drug Saf. 2018 Apr;41(4):415-427. doi: 10.1007/s40264-017-0627-x.

4.

Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors.

Given JE, Loane M, Garne E, Nelen V, Barisic I, Randrianaivo H, Khoshnood B, Wiesel A, Rissmann A, Lynch C, Neville AJ, Pierini A, Bakker M, Klungsoyr K, Latos Bielenska A, Cavero-Carbonell C, Addor MC, Zymak-Zakutnya N, Tucker D, Dolk H.

Paediatr Perinat Epidemiol. 2017 Nov;31(6):549-559. doi: 10.1111/ppe.12401. Epub 2017 Aug 25.

PMID:
28841756
5.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Reggiani C, Coppens S, Sekhara T, Dimov I, Pichon B, Lufin N, Addor MC, Belligni EF, Digilio MC, Faletra F, Ferrero GB, Gerard M, Isidor B, Joss S, Niel-Bütschi F, Perrone MD, Petit F, Renieri A, Romana S, Topa A, Vermeesch JR, Lenaerts T, Casimir G, Abramowicz M, Bontempi G, Vilain C, Deconinck N, Smits G.

Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y.

6.

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.

7.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.

Am J Med Genet A. 2017 May 12. doi: 10.1002/ajmg.a.38267. [Epub ahead of print]

PMID:
28498505
8.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.

Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.

PMID:
27761913
9.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AH, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB.

JCI Insight. 2016 Jun 16;1(9). pii: e87623.

10.

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.

11.

The changing epidemiology of Ebstein's anomaly and its relationship with maternal mental health conditions: a European registry-based study.

Boyle B, Garne E, Loane M, Addor MC, Arriola L, Cavero-Carbonell C, Gatt M, Lelong N, Lynch C, Nelen V, Neville AJ, O'Mahony M, Pierini A, Rissmann A, Tucker D, Zymak-Zakutnia N, Dolk H.

Cardiol Young. 2017 May;27(4):677-685. doi: 10.1017/S1047951116001025. Epub 2016 Aug 30.

PMID:
27572669
12.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.

Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15.

13.

EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication.

Luteijn JM, Morris JK, Garne E, Given J, de Jong-van den Berg L, Addor MC, Bakker M, Barisic I, Gatt M, Klungsoyr K, Latos-Bielenska A, Lelong N, Nelen V, Neville A, O'Mahony M, Pierini A, Tucker D, de Walle H, Wiesel A, Loane M, Dolk H.

Br J Clin Pharmacol. 2016 Oct;82(4):1110-22. doi: 10.1111/bcp.13056. Epub 2016 Aug 4.

14.

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
15.

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies.

Dolk H, Wang H, Loane M, Morris J, Garne E, Addor MC, Arriola L, Bakker M, Barisic I, Doray B, Gatt M, Kallen K, Khoshnood B, Klungsoyr K, Lahesmaa-Korpinen AM, Latos-Bielenska A, Mejnartowicz JP, Nelen V, Neville A, O'Mahony M, Pierini A, Rißmann A, Tucker D, Wellesley D, Wiesel A, de Jong-van den Berg LT.

Neurology. 2016 May 3;86(18):1716-25. doi: 10.1212/WNL.0000000000002540. Epub 2016 Apr 6.

16.

EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations.

Given JE, Loane M, Luteijn JM, Morris JK, de Jong van den Berg LT, Garne E, Addor MC, Barisic I, de Walle H, Gatt M, Klungsoyr K, Khoshnood B, Latos-Bielenska A, Nelen V, Neville AJ, O'Mahony M, Pierini A, Tucker D, Wiesel A, Dolk H.

Br J Clin Pharmacol. 2016 Oct;82(4):1094-109. doi: 10.1111/bcp.12947. Epub 2016 Jul 7.

17.

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.

18.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
19.

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
20.

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
21.

Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.

Garne E, Hansen AV, Morris J, Zaupper L, Addor MC, Barisic I, Gatt M, Lelong N, Klungsøyr K, O'Mahony M, Nelen V, Neville AJ, Pierini A, Tucker D, de Walle H, Wiesel A, Loane M, Dolk H.

J Allergy Clin Immunol. 2015 Dec;136(6):1496-1502.e7. doi: 10.1016/j.jaci.2015.05.043. Epub 2015 Jul 26.

22.

Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies: a European register-based study.

Wemakor A, Casson K, Garne E, Bakker M, Addor MC, Arriola L, Gatt M, Khoshnood B, Klungsoyr K, Nelen V, O'Mahoney M, Pierini A, Rissmann A, Tucker D, Boyle B, de Jong-van den Berg L, Dolk H.

Eur J Epidemiol. 2015 Nov;30(11):1187-98. doi: 10.1007/s10654-015-0065-y. Epub 2015 Jul 7.

PMID:
26148560
23.

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.

World J Urol. 2015 Dec;33(12):2159-67. doi: 10.1007/s00345-015-1507-6. Epub 2015 Feb 25.

24.

Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study.

Rossier MC, Mivelaz Y, Addor MC, Sekarski N, Meijboom EJ, Vial Y.

Swiss Med Wkly. 2014 Dec 4;144:w14068. doi: 10.4414/smw.2014.14068. eCollection 2014.

25.

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.

Arch Dis Child Fetal Neonatal Ed. 2015 Mar;100(2):F137-44. doi: 10.1136/archdischild-2014-306174. Epub 2014 Nov 19.

PMID:
25411443
26.

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.

27.

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
28.

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.

29.

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.

Birth Defects Res A Clin Mol Teratol. 2014 Sep;100(9):695-702. doi: 10.1002/bdra.23269. Epub 2014 Jul 26.

PMID:
25066220
30.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.

Acta Neuropathol Commun. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69.

31.

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.

Winding L, Loane M, Wellesley D, Addor MC, Arriola L, Bakker MK, Bianchi F, Calzolari E, Gatt M, Haeusler M, Lelong N, Mullaney C, Scarano G, Tucker D, Wiesel A, Garne E.

Prenat Diagn. 2014 Nov;34(11):1093-8. doi: 10.1002/pd.4433. Epub 2014 Jul 2.

PMID:
24916896
32.

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
33.

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
34.

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M.

Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Review.

PMID:
24599544
35.

Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening.

Boyle B, Morris JK, McConkey R, Garne E, Loane M, Addor MC, Gatt M, Haeusler M, Latos-Bielenska A, Lelong N, McDonnell R, Mullaney C, O'Mahony M, Dolk H.

BJOG. 2014 Jun;121(7):809-19; discussion 820. doi: 10.1111/1471-0528.12574. Epub 2014 Feb 4.

36.

GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome.

Esposito F, Addor MC, Humm AM, Vingerhoets F, Wider C.

Parkinsonism Relat Disord. 2014 Mar;20(3):351-2. doi: 10.1016/j.parkreldis.2013.12.005. Epub 2013 Dec 25. No abstract available.

PMID:
24405754
37.

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.

38.

Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions.

Wijers CH, van Rooij IA, Bakker MK, Marcelis CL, Addor MC, Barisic I, Béres J, Bianca S, Bianchi F, Calzolari E, Greenlees R, Lelong N, Latos-Bielenska A, Dias CM, McDonnell R, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Rankin J, Zymak-Zakutnia N, de Blaauw I, Roeleveld N, de Walle HE.

BJOG. 2013 Aug;120(9):1066-74. doi: 10.1111/1471-0528.12235. Epub 2013 Apr 10.

39.

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
40.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L.

Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18.

41.

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