Search Results - Addor, Marie Claude

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  1. 1
    Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

    Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome by Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Aytes, Antonio Perez, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin

    Published 2011
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  2. 2
    Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

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

    Published 2020
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  3. 3
    Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study

    Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study by Given, Joanne E, Loane, Maria, Garne, Ester, Addor, Marie-Claude, Bakker, Marian, Bertaut-Nativel, Bénédicte, Gatt, Miriam, Klungsoyr, Kari, Lelong, Nathalie, Morgan, Margery, Neville, Amanda J, Pierini, Anna, Rissmann, Anke, Dolk, Helen

    Published 2018
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  4. 4
    Toward the effective surveillance of hypospadias.

    Toward the effective surveillance of hypospadias. by Dolk, Helen, Vrijheid, Martine, Scott, John E S, Addor, Marie-Claude, Botting, Bev, de Vigan, Catherine, de Walle, Hermien, Garne, Ester, Loane, Maria, Pierini, Anna, Garcia-Minaur, Sixto, Physick, Nigel, Tenconi, Romano, Wiesel, Awi, Calzolari, Elisa, Stone, David

    Published 2004
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  5. 5
    Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

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

    Published 2012
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  6. 6
    Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

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

    Published 2015
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  7. 7
    Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

    Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe 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, Scarano, Gioacchino, Tucker, David

    Published 2014
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  8. 8
    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB by Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.

    Published 2012
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  9. 9
    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB by Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephen, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.

    Published 2014
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  10. 10
    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly by Fallet-Bianco, Catherine, Laquerrière, Annie, Poirier, Karine, Razavi, Ferechte, Guimiot, Fabien, Dias, Patricia, Loeuillet, Laurence, Lascelles, Karine, Beldjord, Cherif, Carion, Nathalie, Toussaint, Aurélie, Revencu, Nicole, Addor, Marie-Claude, Lhermitte, Benoit, Gonzales, Marie, Martinovich, Jelena, Bessieres, Bettina, Marcy-Bonnière, Maryse, Jossic, Frédérique, Marcorelles, Pascale, Loget, Philippe, Chelly, Jamel, Bahi-Buisson, Nadia

    Published 2014
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  11. 11
    EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication

    EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication by Luteijn, Johannes M., Morris, Joan K., Garne, Ester, Given, Joanne, de 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, de Walle, Hermien, Wiesel, Awi, Loane, Maria, Dolk, Helen

    Published 2016
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  12. 12
    Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

    Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study 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, Loane, Maria, Bakker, Marian K.

    Published 2017
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  13. 13
    Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

    Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening 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, Tucker, David, Wellesley, Diana, Yevtushok, Lyubov, Dolk, Helen

    Published 2013
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  14. 14
    EUROmediCAT signal detection: an evaluation of selected congenital anomaly‐medication associations

    EUROmediCAT signal detection: an evaluation of selected congenital anomaly‐medication associations by Given, Joanne E., Loane, Maria, Luteijn, Johannes M., Morris, Joan K., de Jong van den Berg, Lolkje T.W., Garne, Ester, Addor, Marie‐Claude, Barisic, Ingeborg, de 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

    Published 2016
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  15. 15
    Holt Oram syndrome: a registry-based study in Europe

    Holt Oram syndrome: a registry-based study in Europe by Barisic, Ingeborg, Boban, Ljubica, Greenlees, Ruth, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke EH, Braz, Paula, Budd, Judith LS, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Nelen, Vera, Pierini, Anna, Queisser-Wahrendorf, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Tucker, David, Verellen-Dumoulin, Christine, Dolk, Helen

    Published 2014
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  16. 16
    Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

    Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability 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, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

    Published 2017
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  17. 17
    Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization

    Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization by DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T, Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C, Tsai, Anne C-H, Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia AL, Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B, Krantz, Ian D

    Published 2012
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  18. 18
    Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

    Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies by Dolk, Helen, Wang, Hao, Loane, Maria, Morris, Joan, Garne, Ester, Addor, Marie-Claude, Arriola, Larraitz, Bakker, Marian, Barisic, Ingeborg, Doray, Berenice, Gatt, Miriam, Kallen, Karin, Khoshnood, Babak, Klungsoyr, Kari, Lahesmaa-Korpinen, Anna-Maria, Latos-Bielenska, Anna, Mejnartowicz, Jan P., Nelen, Vera, Neville, Amanda, O'Mahony, Mary, Pierini, Anna, Rißmann, Anke, Tucker, David, Wellesley, Diana, Wiesel, Awi, de Jong-van den Berg, Lolkje T.W.

    Published 2016
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  19. 19
    Trends in congenital anomalies in Europe from 1980 to 2012

    Trends in congenital anomalies in Europe from 1980 to 2012 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, Pierini, Anna, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Kurinczuk, Jennifer, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Dolk, Helen

    Published 2018
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  20. 20
    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study by Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita

    Published 2018
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