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

由 Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Aytes, Antonio Perez, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin
出版 2011

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

由 Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien
發表在 BMC Neurol (2020)

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

由 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
發表在 BMJ (2018)

Toward the effective surveillance of hypospadias.

由 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
出版 2004

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

由 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
出版 2012

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

由 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
發表在 Eur J Hum Genet (2015)

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

由 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
發表在 Eur J Hum Genet (2014)

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

由 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.
出版 2012

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

由 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.
出版 2014

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

由 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
發表在 Acta Neuropathol Commun (2014)

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

由 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
發表在 Br J Clin Pharmacol (2016)

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

由 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.
發表在 Drug Saf (2017)

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

由 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
出版 2013

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

由 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
發表在 Br J Clin Pharmacol (2016)

Holt Oram syndrome: a registry-based study in Europe

由 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
發表在 Orphanet J Rare Dis (2014)

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

由 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
發表在 Genome Med (2017)

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

由 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
出版 2012

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

由 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.
發表在 Neurology (2016)

Epidemiology of hypospadias in Europe: a registry-based study

由 Bergman, Jorieke E. H., Loane, Maria, Vrijheid, Martine, Pierini, Anna, Nijman, Rien J. M., 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 J., O’Mahony, Mary, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rissmann, Anke, Rounding, Catherine, Tucker, David, Wellesley, Diana, Zymak-Zakutnia, Natalya, Bakker, Marian K., de Walle, Hermien E. K.
發表在 World J Urol (2015)

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

由 Khoshnood, Babak, Loane, Maria, de Walle, Hermien, Arriola, Larraitz, Addor, Marie-Claude, Barisic, Ingeborg, Beres, Judit, Bianchi, Fabrizio, Dias, Carlos, Draper, Elizabeth, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Klungsoyr, Kari, Latos-Bielenska, Anna, Lynch, Catherine, McDonnell, Bob, Nelen, Vera, Neville, Amanda J, O’Mahony, Mary T, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Ritvanen, Annukka, Rounding, Catherine, Sipek, Antonin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Dolk, Helen
發表在 BMJ (2015)