Found: 44

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  • Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

    Published in:
    2022
    By:
    • Basmanav, F. Buket;
    • Cesarato, Nicole;
    • Kumar, Sheetal;
    • Borisov, Oleg;
    • Kokordelis, Pavlos;
    • Ralser, Damian J.;
    • Wehner, Maria;
    • Axt, Daisy;
    • Xiong, Xing;
    • Thiele, Holger;
    • Dolgin, Vadim;
    • Gossmann, Yasmina;
    • Fricker, Nadine;
    • Dewenter, Malin Katharina;
    • Weller, Karsten;
    • Suri, Mohnish;
    • Reichenbach, Herbert;
    • Oji, Vinzenz;
    • Addor, Marie-Claude;
    • Ramirez, Karla
    Publication type:
    journal article

  • Epidemiology of Pierre‐Robin sequence in Europe: A population‐based EUROCAT study.

    Published in:
    Paediatric & Perinatal Epidemiology, 2021, v. 35, n. 5, p. 530, doi. 10.1111/ppe.12776
    By:
    • Santoro, Michele;
    • Coi, Alessio;
    • Barišić, Ingeborg;
    • Pierini, Anna;
    • Addor, Marie‐Claude;
    • Baldacci, Silvia;
    • Ballardini, Elisa;
    • Boban, Ljubica;
    • Braz, Paula;
    • Cavero‐Carbonell, Clara;
    • de Walle, Hermien E. K.;
    • Draper, Elizabeth S.;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Klungsøyr, Kari;
    • Kurinczuk, Jennifer J.;
    • Materna‐Kiryluk, Anna;
    • Lanzoni, Monica;
    • Lelong, Nathalie;
    • Luyt, Karen
    Publication type:
    Article

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

    Published in:
    2017
    By:
    • Given, Joanne E.;
    • Loane, Maria;
    • Garne, Ester;
    • Nelen, Vera;
    • Barisic, Ingeborg;
    • Randrianaivo, Hanitra;
    • Khoshnood, Babak;
    • Wiesel, Awi;
    • Rissmann, Anke;
    • Lynch, Catherine;
    • Neville, Amanda J.;
    • Pierini, Anna;
    • Bakker, Marian;
    • Klungsoyr, Kari;
    • Latos Bielenska, Anna;
    • Cavero‐Carbonell, Clara;
    • Addor, Marie‐Claude;
    • Zymak‐Zakutnya, Natalya;
    • Tucker, David;
    • Dolk, Helen
    Publication type:
    journal article

  • Season of birth in valvular heart disease.

    Published in:
    Paediatric & Perinatal Epidemiology, 2005, v. 19, n. 3, p. 246, doi. 10.1111/j.1365-3016.2005.00645.x
    By:
    • Bosshardt, Daniela;
    • Ajdacic-Gross, Vladeta;
    • Phung Lang;
    • Bosshardt, Mathias;
    • Bopp, Matthias;
    • Addor, Marie-Claude;
    • Gutzwiller, Felix
    Publication type:
    Article

  • Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene.

    Published in:
    2001
    By:
    • Zankl, Andreas;
    • Addor, Marie-Claude;
    • Cousin, Pascal;
    • Gaide, Anne-Claude;
    • Gudinchet, Francois;
    • Schorderet, Daniel F.;
    • Zankl, A;
    • Addor, M C;
    • Cousin, P;
    • Gaide, A C;
    • Gudinchet, F;
    • Schorderet, D F
    Publication type:
    journal article

  • A characteristic EEG pattern in 4p-syndrome: case report and review of the literature.

    Published in:
    2001
    By:
    • Zankl, Andreas;
    • Addor, Marie-Claude;
    • Maeder-Ingvar, Malin;
    • Schorderet, Daniel F.;
    • Zankl, A;
    • Addor, M C;
    • Maeder-Ingvar, M M;
    • Schorderet, D F
    Publication type:
    journal article

  • Holt Oram syndrome: a registry-based study in Europe.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0156-y
    By:
    • Barisic, Ingeborg;
    • Boban, Ljubica;
    • Greenlees, Ruth;
    • Garne, Ester;
    • Wellesley, Diana;
    • Calzolari, Elisa;
    • Addor, Marie-Claude;
    • Arriola, Larraitz;
    • Bergman, Jorieke E. H.;
    • Braz, Paula;
    • Budd, Judith L. S.;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • McDonnell, Bob;
    • Nelen, Vera;
    • Pierini, Anna;
    • Queisser-Wahrendorf, Annette;
    • Rankin, Judith
    Publication type:
    Article

  • Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.

    Published in:
    Neuroepidemiology, 2019, v. 53, n. 3/4, p. 169, doi. 10.1159/000501238
    By:
    • Santoro, Michele;
    • Coi, Alessio;
    • Barišić, Ingeborg;
    • Garne, Ester;
    • Addor, Marie-Claude;
    • Bergman, Jorieke E.H.;
    • Bianchi, Fabrizio;
    • Boban, Ljubica;
    • Braz, Paula;
    • Cavero-Carbonell, Clara;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Kinsner-Ovaskainen, Agnieszka;
    • Klungsøyr, Kari;
    • Kurinczuk, Jennifer J.;
    • Lelong, Nathalie;
    • Luyt, Karen;
    • Materna-Kiryluk, Anna;
    • Mokoroa, Olatz;
    • Mullaney, Carmel
    Publication type:
    Article

  • Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

    Published in:
    Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0
    By:
    • Narumi, Yoko;
    • Aoki, Yoko;
    • Niihori, Tetsuya;
    • Sakurai, Masahiro;
    • Cavé, Hélène;
    • Verloes, Alain;
    • Nishio, Kimio;
    • Ohashi, Hirofumi;
    • Kurosawa, Kenji;
    • Okamoto, Nobuhiko;
    • Kawame, Hiroshi;
    • Mizuno, Seiji;
    • Kondoh, Tatsuro;
    • Addor, Marie-Claude;
    • Coeslier-Dieux, Anne;
    • Vincent-Delorme, Catherine;
    • Tabayashi, Koichi;
    • Aoki, Masashi;
    • Kobayashi, Tomoko;
    • Guliyeva, Afag
    Publication type:
    Article

  • Amniotic band syndrome and limb body wall complex in Europe 1980–2019.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 995, doi. 10.1002/ajmg.a.63107
    By:
    • Bergman, Jorieke E. H.;
    • Barišić, Ingeborg;
    • Addor, Marie‐Claude;
    • Braz, Paula;
    • Cavero‐Carbonell, Clara;
    • Draper, Elizabeth S.;
    • Echevarría‐González‐de‐Garibay, Luis J.;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Klungsøyr, Kari;
    • Kurinczuk, Jennifer J.;
    • Latos‐Bielenska, Anna;
    • Luyt, Karen;
    • Martin, Danielle;
    • Mullaney, Carmel;
    • Nelen, Vera;
    • Neville, Amanda J.;
    • O'Mahony, Mary T.;
    • Perthus, Isabelle
    Publication type:
    Article

  • Epidemiology of achondroplasia: A population‐based study in Europe.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1791, doi. 10.1002/ajmg.a.61289
    By:
    • Coi, Alessio;
    • Santoro, Michele;
    • Garne, Ester;
    • Pierini, Anna;
    • Addor, Marie‐Claude;
    • Alessandri, Jean‐Luc;
    • Bergman, Jorieke E. H.;
    • Bianchi, Fabrizio;
    • Boban, Ljubica;
    • Braz, Paula;
    • Cavero‐Carbonell, Clara;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Klungsøyr, Kari;
    • Kurinczuk, Jennifer J.;
    • Lanzoni, Monica;
    • Lelong, Nathalie;
    • Luyt, Karen;
    • Mokoroa, Olatz;
    • Mullaney, Carmel
    Publication type:
    Article

  • Congenital clubfoot in Europe: A population‐based study.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 595, doi. 10.1002/ajmg.a.61067
    By:
    • Wang, Hao;
    • Barisic, Ingeborg;
    • Loane, Maria;
    • Addor, Marie‐Claude;
    • Bailey, Linda M.;
    • Gatt, Miriam;
    • Klungsoyr, Kari;
    • Mokoroa, Olatz;
    • Nelen, Vera;
    • Neville, Amanda J.;
    • O'Mahony, Mary;
    • Pierini, Anna;
    • Rissmann, Anke;
    • Verellen‐Dumoulin, Christine;
    • Walle, Hermien E.K.;
    • Wiesel, Awi;
    • Wisniewska, Katarzyna;
    • Jong‐van den Berg, Lolkje T.W.;
    • Dolk, Helen;
    • Khoshnood, Babak
    Publication type:
    Article

  • Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3062, doi. 10.1002/ajmg.a.37355
    By:
    • Springett, Anna;
    • Wellesley, Diana;
    • Greenlees, Ruth;
    • Loane, Maria;
    • Addor, Marie‐Claude;
    • Arriola, Larraitz;
    • Bergman, Jorieke;
    • Cavero‐Carbonell, Clara;
    • Csaky‐Szunyogh, Melinda;
    • Draper, Elizabeth S.;
    • Garne, Ester;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • Lynch, Catherine;
    • Dias, Carlos Matias;
    • McDonnell, Robert;
    • Nelen, Vera;
    • O'Mahony, Mary
    Publication type:
    Article

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

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2979, doi. 10.1002/ajmg.a.36780
    By:
    • Morris, Joan K.;
    • Garne, Ester;
    • Wellesley, Diana;
    • Addor, Marie ‐ Claude;
    • Arriola, Larraitz;
    • Barisic, Ingeborg;
    • Beres, Judit;
    • Bianchi, Fabrizio;
    • Budd, Judith;
    • Dias, Carlos Matias;
    • Gatt, Miriam;
    • Klungsoyr, Kari;
    • Khoshnood, Babak;
    • Latos ‐ BielENska, Anna;
    • Mullaney, Carmel;
    • NelEN, Vera;
    • Neville, Amanda J.;
    • O'Mahony, Mary;
    • Queisser ‐ Luft, Annette;
    • Randrianaivo, Hanitra
    Publication type:
    Article

  • Fraser Syndrome: Epidemiological Study in a European Population.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1012, doi. 10.1002/ajmg.a.35839
    By:
    • Barisic, Ingeborg;
    • Odak, Ljubica;
    • Loane, Maria;
    • Garne, Ester;
    • Wellesley, Diana;
    • Calzolari, Elisa;
    • Dolk, Helen;
    • Addor, Marie‐Claude;
    • Arriola, Larraitz;
    • Bergman, Jorieke;
    • Bianca, Sebastiano;
    • Boyd, Patricia A.;
    • Draper, Elizabeth S;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Latos‐Bielenska, Anna;
    • McDonnell, Bob;
    • Pierini, Anna;
    • Rankin, Judith
    Publication type:
    Article

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

    Published in:
    European Journal of Epidemiology, 2015, v. 30, n. 11, p. 1187, doi. 10.1007/s10654-015-0065-y
    By:
    • Wemakor, Anthony;
    • Casson, Karen;
    • Garne, Ester;
    • Bakker, Marian;
    • Addor, Marie-Claude;
    • Arriola, Larraitz;
    • Gatt, Miriam;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • Nelen, Vera;
    • O'Mahoney, Mary;
    • Pierini, Anna;
    • Rissmann, Anke;
    • Tucker, David;
    • Boyle, Breidge;
    • Jong-van den Berg, Lolkje;
    • Dolk, Helen
    Publication type:
    Article

  • Pregnancy outcome following first-trimester exposure to fingolimod: A collaborative ENTIS study.

    Published in:
    Multiple Sclerosis Journal, 2021, v. 27, n. 3, p. 475, doi. 10.1177/1352458520929628
    By:
    • Pauliat, Emmanuelle;
    • Onken, Marlies;
    • Weber-Schoendorfer, Corinna;
    • Rousson, Valentin;
    • Addor, Marie-Claude;
    • Baud, David;
    • Théaudin, Marie;
    • Diav-Citrin, Orna;
    • Cottin, Judith;
    • Agusti, Antonia;
    • Rollason, Victoria;
    • Kaplan, Yusuf C;
    • Kennedy, Debra;
    • Kadioglu, Mine;
    • Rothuizen, Laura E;
    • Livio, Françoise;
    • Buclin, Thierry;
    • Panchaud, Alice;
    • Winterfeld, Ursula
    Publication type:
    Article

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

    Published in:
    2017
    By:
    • Boyle, Breidge;
    • Garne, Ester;
    • Loane, Maria;
    • Addor, Marie-Claude;
    • Arriola, Larraitz;
    • Cavero-Carbonell, Clara;
    • Gatt, Miriam;
    • Lelong, Nathalie;
    • Lynch, Catherine;
    • Nelen, Vera;
    • Neville, Amanda J.;
    • O’Mahony, Mary;
    • Pierini, Anna;
    • Rissmann, Anke;
    • Tucker, David;
    • Zymak-Zakutnia, Natalia;
    • Dolk, Helen;
    • O'Mahony, Mary
    Publication type:
    journal article

  • Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival.

    Published in:
    Cardiology in the Young, 2013, v. 23, n. 4, p. 560, doi. 10.1017/S1047951112001400
    By:
    • Christensen, Nikolas;
    • Andersen, Helle;
    • Garne, Ester;
    • Wellesley, Diana;
    • Addor, Marie-Claude;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Mullaney, Carmel;
    • Rankin, Judith;
    • Tucker, David
    Publication type:
    Article

  • Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome.

    Published in:
    PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024925
    By:
    • Cheol-Sang Hwang;
    • Sukalo, Maja;
    • Batygin, Olga;
    • Addor, Marie-Claude;
    • Brunner, Han;
    • Aytes, Antonio Perez;
    • Mayerle, Julia;
    • Hyun Kyu Song;
    • Varshavsky, Alexander;
    • Zenker, Martin
    Publication type:
    Article

  • Epidemiology of hypospadias in Europe: a registry-based study.

    Published in:
    World Journal of Urology, 2015, v. 33, n. 12, p. 2159, doi. 10.1007/s00345-015-1507-6
    By:
    • Bergman, Jorieke;
    • Loane, Maria;
    • Vrijheid, Martine;
    • Pierini, Anna;
    • Nijman, Rien;
    • Addor, Marie-Claude;
    • Barisic, Ingeborg;
    • Béres, Judit;
    • Braz, Paula;
    • Budd, Judith;
    • Delaney, Virginia;
    • Gatt, Miriam;
    • Khoshnood, Babak;
    • Klungsøyr, Kari;
    • Martos, Carmen;
    • Mullaney, Carmel;
    • Nelen, Vera;
    • Neville, Amanda;
    • O'Mahony, Mary;
    • Queisser-Luft, Annette
    Publication type:
    Article

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

    Published in:
    British Journal of Clinical Pharmacology, 2016, v. 82, n. 4, p. 1094, doi. 10.1111/bcp.12947
    By:
    • Given, Joanne E.;
    • Loane, Maria;
    • Luteijn, Johannes M.;
    • Morris, Joan K.;
    • Jong van den Berg, Lolkje T.W.;
    • Garne, Ester;
    • Addor, Marie‐Claude;
    • Barisic, Ingeborg;
    • Walle, Hermien;
    • Gatt, Miriam;
    • Klungsoyr, Kari;
    • Khoshnood, Babak;
    • Latos‐Bielenska, Anna;
    • Nelen, Vera;
    • Neville, Amanda J.;
    • O'Mahony, Mary;
    • Pierini, Anna;
    • Tucker, David;
    • Wiesel, Awi;
    • Dolk, Helen
    Publication type:
    Article

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

    Published in:
    British Journal of Clinical Pharmacology, 2016, v. 82, n. 4, p. 1110, doi. 10.1111/bcp.13056
    By:
    • Luteijn, Johannes M.;
    • Morris, Joan K.;
    • Garne, Ester;
    • Given, Joanne;
    • Jong‐van den Berg, Lolkje;
    • Addor, Marie‐Claude;
    • Bakker, Marian;
    • Barisic, Ingeborg;
    • Gatt, Miriam;
    • Klungsoyr, Kari;
    • Latos‐Bielenska, Anna;
    • Lelong, Nathalie;
    • Nelen, Vera;
    • Neville, Amanda;
    • O'Mahony, Mary;
    • Pierini, Anna;
    • Tucker, David;
    • Walle, Hermien;
    • Wiesel, Awi;
    • Loane, Maria
    Publication type:
    Article

  • Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 6, p. 746, doi. 10.1038/ejhg.2014.174
    By:
    • Barisic, Ingeborg;
    • Boban, Ljubica;
    • Loane, Maria;
    • Garne, Ester;
    • Wellesley, Diana;
    • Calzolari, Elisa;
    • Dolk, Helen;
    • Addor, Marie-Claude;
    • Bergman, Jorieke EH;
    • Braz, Paula;
    • Draper, Elizabeth S;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • Pierini, Anna;
    • Queisser-Luft, Annette;
    • Rankin, Judith;
    • Rissmann, Anke;
    • Verellen-Dumoulin, Christine
    Publication type:
    Article

  • Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1026, doi. 10.1038/ejhg.2013.287
    By:
    • Barisic, Ingeborg;
    • Odak, Ljubica;
    • Loane, Maria;
    • Garne, Ester;
    • Wellesley, Diana;
    • Calzolari, Elisa;
    • Dolk, Helen;
    • Addor, Marie-Claude;
    • Arriola, Larraitz;
    • Bergman, Jorieke;
    • Bianca, Sebastiano;
    • Doray, Berenice;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • McDonnell, Bob;
    • Pierini, Anna;
    • Rankin, Judith;
    • Rissmann, Anke;
    • Rounding, Catherine;
    • Queisser-Luft, Annette
    Publication type:
    Article

  • Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 1, p. 27, doi. 10.1038/ejhg.2012.94
    By:
    • Loane, Maria;
    • Morris, Joan K;
    • Addor, Marie-Claude;
    • Arriola, Larraitz;
    • Budd, Judith;
    • Doray, Berenice;
    • Garne, Ester;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Klungsøyr Melve, Kari;
    • Latos-Bielenska, Anna;
    • McDonnell, Bob;
    • Mullaney, Carmel;
    • O'Mahony, Mary;
    • Queißer-Wahrendorf, Annette;
    • Rankin, Judith;
    • Rissmann, Anke;
    • Rounding, Catherine;
    • Salvador, Joaquin
    Publication type:
    Article

  • Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 5, p. 521, doi. 10.1038/ejhg.2011.246
    By:
    • Wellesley, Diana;
    • Dolk, Helen;
    • Boyd, Patricia A;
    • Greenlees, Ruth;
    • Haeusler, Martin;
    • Nelen, Vera;
    • Garne, Ester;
    • Khoshnood, Babak;
    • Doray, Berenice;
    • Rissmann, Anke;
    • Mullaney, Carmel;
    • Calzolari, Elisa;
    • Bakker, Marian;
    • Salvador, Joaquin;
    • Addor, Marie-Claude;
    • Draper, Elizabeth;
    • Rankin, Judith;
    • Tucker, David
    Publication type:
    Article

  • Toward the Effective Surveillance of Hypospadias.

    Published in:
    Environmental Health Perspectives, 2004, v. 112, n. 3, p. 398, doi. 10.1289/ehp.6398
    By:
    • Dolk, Helen;
    • Vrijheid, Martine;
    • Scott, John E. S.;
    • Addor, Marie-Claude;
    • Boning, Bev;
    • de Vigan, Catherine;
    • de Walle, Hermien;
    • Game, Ester;
    • Loane, Maria;
    • Pierini, Anna;
    • Garcia-Minaur, Sixto;
    • Physick, Nigel;
    • Tenconi, Romano;
    • Wiesel, Awi;
    • Calzolari, Elisa;
    • Stone, David
    Publication type:
    Article

  • Maternal age and the prevalence of congenital heart defects in Europe, 1995-2015: A register-based study.

    Published in:
    Birth Defects Research, 2023, v. 115, n. 6, p. 583, doi. 10.1002/bdr2.2152
    By:
    • Mamasoula, Chrysovalanto;
    • Bigirumurame, Theophile;
    • Chadwick, Thomas;
    • Addor, Marie-Claude;
    • Cavero-Carbonell, Clara;
    • Dias, Carlos M.;
    • Echevarría-González-de-Garibay, Luis-Javier;
    • Gatt, Miriam;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • Randall, Kay;
    • Stoianova, Sylvia;
    • Haeusler, Martin;
    • Nelen, Vera;
    • Neville, Amanda J.;
    • Perthus, Isabelle;
    • Pierini, Anna;
    • Bertaut-Nativel, Bénédicte;
    • Rissmann, Anke;
    • Rouget, Florence
    Publication type:
    Article

  • Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.

    Published in:
    Birth Defects Research, 2022, v. 114, n. 20, p. 1417, doi. 10.1002/bdr2.2122
    By:
    • Morris, Joan K.;
    • Wellesley, Diana;
    • Limb, Elizabeth;
    • Bergman, Jorieke E. H.;
    • Kinsner‐Ovaskainen, Agnieszka;
    • Addor, Marie Claude;
    • Broughan, Jennifer M.;
    • Cavero‐Carbonell, Clara;
    • Dias, Carlos M.;
    • Echevarría‐González‐de‐Garibay, Luis‐Javier;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Barisic, Ingeborg;
    • Klungsoyr, Kari;
    • Lelong, Nathalie;
    • Materna‐Kiryluk, Anna;
    • Neville, Amanda;
    • Nelen, Vera;
    • O'Mahony, Mary T.;
    • Perthus, Isabelle
    Publication type:
    Article

  • Prevalence of congenital heart defects in Europe, 2008–2015: A registry‐based study.

    Published in:
    Birth Defects Research, 2022, v. 114, n. 20, p. 1404, doi. 10.1002/bdr2.2117
    By:
    • Mamasoula, Chrysovalanto;
    • Addor, Marie‐Claude;
    • Carbonell, Clara Cavero;
    • Dias, Carlos M.;
    • Echevarría‐González‐de‐Garibay, Luis‐Javier;
    • Gatt, Miriam;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • Randall, Kay;
    • Stoianova, Sylvia;
    • Haeusler, Martin;
    • Nelen, Vera;
    • Neville, Amanda J.;
    • Perthus, Isabelle;
    • Pierini, Anna;
    • Bertaut‐Nativel, Bénédicte;
    • Rissmann, Anke;
    • Rouget, Florence;
    • Schaub, Bruno;
    • Tucker, David
    Publication type:
    Article

  • Maternal risk factors for the VACTERL association: A EUROCAT case–control study.

    Published in:
    Birth Defects Research, 2020, v. 112, n. 9, p. 688, doi. 10.1002/bdr2.1686
    By:
    • Putte, Romy;
    • Rooij, Iris A.L.M.;
    • Haanappel, Cynthia P.;
    • Marcelis, Carlo L.M.;
    • Brunner, Han G.;
    • Addor, Marie‐Claude;
    • Cavero‐Carbonell, Clara;
    • Dias, Carlos M.;
    • Draper, Elizabeth S.;
    • Etxebarriarteun, Larraitz;
    • Gatt, Miriam;
    • Khoshnood, Babak;
    • Kinsner‐Ovaskainen, Agnieszka;
    • Klungsoyr, Kari;
    • Kurinczuk, Jenny J.;
    • Latos‐Bielenska, Anna;
    • Luyt, Karen;
    • O'Mahony, Mary T.;
    • Miller, Nicola;
    • Mullaney, Carmel
    Publication type:
    Article

  • Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study.

    Published in:
    Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05717-w
    By:
    • Parata, Gallien;
    • Vial, Yvan;
    • Addor, Marie-Claude;
    • Pellegrinelli, Jean-Marie;
    • Wildhaber, Barbara E.
    Publication type:
    Article

  • Epidemiology of aplasia cutis congenita: A population‐based study in Europe.

    Published in:
    Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 3, p. 581, doi. 10.1111/jdv.18690
    By:
    • Coi, Alessio;
    • Barisic, Ingeborg;
    • Garne, Ester;
    • Pierini, Anna;
    • Addor, Marie‐Claude;
    • Aizpurua Atxega, Amaia;
    • Ballardini, Elisa;
    • Braz, Paula;
    • Broughan, Jennifer M.;
    • Cavero‐Carbonell, Clara;
    • de Walle, Hermien E. K.;
    • Draper, Elizabeth S.;
    • Gatt, Miriam;
    • Häusler, Martin;
    • Kinsner‐Ovaskainen, Agnieszka;
    • Kurinczuk, Jennifer J.;
    • Lelong, Nathalie;
    • Luyt, Karen;
    • Mezzasalma, Lorena;
    • Mullaney, Carmel
    Publication type:
    Article

  • Survival and Health in Liveborn Infants with Transposition of Great Arteries—A Population-based Study.

    Published in:
    Congenital Heart Disease, 2007, v. 2, n. 3, p. 165, doi. 10.1111/j.1747-0803.2007.00093.x
    By:
    • Garne, Ester;
    • Loane, Maria A.;
    • Nelen, Vera;
    • Bakker, Marian K.;
    • Gener, Blanca;
    • Abramsky, Lenore;
    • Addor, Marie-Claude;
    • Queisser-Luft, Annette
    Publication type:
    Article

  • Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.

    Published in:
    Prenatal Diagnosis, 2014, v. 34, n. 11, p. 1093, doi. 10.1002/pd.4433
    By:
    • Winding, Louise;
    • Loane, Maria;
    • Wellesley, Diana;
    • Addor, Marie‐Claude;
    • Arriola, Larraitz;
    • Bakker, Marian K.;
    • Bianchi, Fabrizio;
    • Calzolari, Elisa;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Lelong, Nathalie;
    • Mullaney, Carmel;
    • Scarano, Gioacchino;
    • Tucker, David;
    • Wiesel, Awi;
    • Garne, Ester
    Publication type:
    Article

  • Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe.

    Published in:
    2004
    By:
    • Garne, Ester;
    • Loane, Maria;
    • de Vigan, Catherine;
    • Scarano, Gioacchino;
    • de Walle, Hermien;
    • Gillerot, Yves;
    • Stoll, Claude;
    • Addor, Marie-Claude;
    • Stone, David;
    • Gener, Blanca;
    • Feijoo, Maria;
    • Mosquera-Tenreiro, Carmen;
    • Gatt, Miriam;
    • Queisser-Luft, Annette;
    • Baena, Neus;
    • Dolk, Helen
    Publication type:
    journal article

  • Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum.

    Published in:
    Human Mutation, 2014, v. 35, n. 5, p. 521, doi. 10.1002/humu.22538
    By:
    • Sukalo, Maja;
    • Fiedler, Ariane;
    • Guzmán, Celina;
    • Spranger, Stephanie;
    • Addor, Marie ‐ Claude;
    • Mcheik, Jiad N.;
    • Oltra Benavent, Manuel;
    • Cobben, Jan M.;
    • Gillis, Lynette A.;
    • Shealy, Amy G.;
    • Deshpande, Charu;
    • Bozorgmehr, Bita;
    • Everman, David B.;
    • Stattin, Eva ‐ Lena;
    • Liebelt, Jan;
    • Keller, Klaus ‐ Michael;
    • Bertola, Débora Romeo;
    • Karnebeek, Clara D.M.;
    • Bergmann, Carsten;
    • Liu, Zhifeng
    Publication type:
    Article

  • Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.

    Published in:
    Human Mutation, 2009, v. 30, n. 9, p. 1355, doi. 10.1002/humu.21058
    By:
    • Magyar, István;
    • Colman, Dvora;
    • Arnold, Eliane;
    • Baumgartner, Daniela;
    • Bottani, Armand;
    • Fokstuen, Siv;
    • Addor, Marie-Claude;
    • Berger, Wolfgang;
    • Carrel, Thierry;
    • Steinmann, Beat;
    • Mátyás, Gábor
    Publication type:
    Article

  • Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

    Published in:
    2020
    By:
    • Bastos, Filipa;
    • Quinodoz, Mathieu;
    • Addor, Marie-Claude;
    • Royer-Bertrand, Beryl;
    • Fodstad, Heidi;
    • Rivolta, Carlo;
    • Poloni, Claudia;
    • Superti-Furga, Andrea;
    • Roulet-Perez, Eliane;
    • Lebon, Sebastien
    Publication type:
    journal article

  • Signal Detection in EUROmediCAT: Identification and Evaluation of Medication–Congenital Anomaly Associations and Use of VigiBase as a Complementary Source of Reference.

    Published in:
    Drug Safety, 2021, v. 44, n. 7, p. 765, doi. 10.1007/s40264-021-01073-z
    By:
    • Cavadino, Alana;
    • Sandberg, Lovisa;
    • Öhman, Inger;
    • Bergvall, Tomas;
    • Star, Kristina;
    • Dolk, Helen;
    • Loane, Maria;
    • Addor, Marie-Claude;
    • Barisic, Ingeborg;
    • Cavero-Carbonell, Clara;
    • Garne, Ester;
    • Gatt, Miriam;
    • Khoshnood, Babak;
    • Klungsøyr, Kari;
    • Latos-Bielenska, Anna;
    • Lelong, Nathalie;
    • Lutke, Reneé;
    • Materna-Kiryluk, Anna;
    • Nelen, Vera;
    • Nevill, Amanda
    Publication type:
    Article

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

    Published in:
    2018
    By:
    • Bergman, Jorieke E. H.;
    • Lutke, L. Renée;
    • Gans, Rijk O. B.;
    • Addor, Marie-Claude;
    • Barisic, Ingeborg;
    • Cavero-Carbonell, Clara;
    • Garne, Ester;
    • Gatt, Miriam;
    • Klungsoyr, Kari;
    • Lelong, Nathalie;
    • Lynch, Catherine;
    • Mokoroa, Olatz;
    • Nelen, Vera;
    • Neville, Amanda J.;
    • Pierini, Anna;
    • Randrianaivo, Hanitra;
    • Rissmann, Anke;
    • Tucker, David;
    • Wiesel, Awi;
    • Dolk, Helen
    Publication type:
    journal article

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

    Published in:
    2017
    By:
    • Reggiani, Claudio;
    • Coppens, Sandra;
    • Sekhara, Tayeb;
    • Dimov, Ivan;
    • Pichon, Bruno;
    • Lufin, Nicolas;
    • Addor, Marie-Claude;
    • Belligni, Elga Fabia;
    • Digilio, Maria Cristina;
    • Faletra, Flavio;
    • Ferrero, Giovanni Battista;
    • Gerard, Marion;
    • Isidor, Bertrand;
    • Joss, Shelagh;
    • Niel-Bütschi, Florence;
    • Perrone, Maria Dolores;
    • Petit, Florence;
    • Renieri, Alessandra;
    • Romana, Serge;
    • Topa, Alexandra
    Publication type:
    Case Study

  • Trends in congenital anomalies in Europe from 1980 to 2012.

    Published in:
    PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0194986
    By:
    • Morris, Joan K.;
    • Springett, Anna L.;
    • Greenlees, Ruth;
    • Loane, Maria;
    • Addor, Marie-Claude;
    • Arriola, Larraitz;
    • Barisic, Ingeborg;
    • Bergman, Jorieke E. H.;
    • Csaky-Szunyogh, Melinda;
    • Dias, Carlos;
    • Draper, Elizabeth S.;
    • Garne, Ester;
    • Gatt, Miriam;
    • Khoshnood, Babak;
    • Klungsoyr, Kari;
    • Lynch, Catherine;
    • McDonnell, Robert;
    • Nelen, Vera;
    • Neville, Amanda J.;
    • O'Mahony, Mary
    Publication type:
    Article