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

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

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

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

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

per 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
Publicat a BMJ (2018)

Toward the effective surveillance of hypospadias.

per 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
Publicat 2004

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

per 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
Publicat 2012

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

per 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
Publicat a Eur J Hum Genet (2015)

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

per 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
Publicat a Eur J Hum Genet (2014)

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

per 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.
Publicat 2012

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

per 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.
Publicat 2014

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

per 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
Publicat a Acta Neuropathol Commun (2014)

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

per 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
Publicat a Br J Clin Pharmacol (2016)

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

per 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.
Publicat a Drug Saf (2017)

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

per 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
Publicat 2013

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

per 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
Publicat a Br J Clin Pharmacol (2016)

Holt Oram syndrome: a registry-based study in Europe

per 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
Publicat a Orphanet J Rare Dis (2014)

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

per 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
Publicat a Genome Med (2017)

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

per 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
Publicat 2012

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

per 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.
Publicat a Neurology (2016)

Epidemiology of hypospadias in Europe: a registry-based study

per 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.
Publicat a World J Urol (2015)

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

per 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
Publicat a BMJ (2015)