Psychiatric genetic counseling: A mapping exercise
Moldovan, Ramona, McGhee, Kevin A., Coviello, Domenico, Hamang, Anniken, Inglis, Angela, Ingvoldstad Malmgren, Charlotta, Johansson‐Soller, Maria, Laurino, Mercy, Meiser, Bettina, Murphy, Lauren, Paneque, Milena, Papsuev, Oleg, Pawlak, Joanna, Rovira Moreno, Eulàlia, Serra‐Juhe, Clara, Shkedi‐Rafid, Shiri, Laing, Nakita, Voelckel, Marie‐Antoinette, Watson, Melanie, Austin, Jehannine C.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2019)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2019)
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Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
Béroud, Christophe, Tuffery-Giraud, Sylvie, Matsuo, Masafumi, Hamroun, Dalil, Humbertclaude, Véronique, Monnier, Nicole, Moizard, Marie-Pierre, Voelckel, Marie-Antoinette, Calemard, Laurence Michel, Boisseau, Pierre, Blayau, Martine, Philippe, Christophe, Cossée, Mireille, Pagès, Michel, Rivier, François, Danos, Olivier, Garcia, Luis, Claustres, Mireille
Published in Human mutation (01.02.2007)
Published in Human mutation (01.02.2007)
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Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
Pang, Junfeng, Zhang, Shu, Yang, Ping, Hawkins-Lee, Bobbilynn, Zhong, Jixin, Zhang, Yushan, Ochoa, Bernardo, Agundez, Jose A.G., Voelckel, Marie-Antoinette, Gu, Weikuan, Xiong, Wen-Cheng, Mei, Lin, She, Jin-Xiong, Wang, Cong-Yi
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
Rousseau, François, Heitz, Dominique, Biancalana, Valérie, Blumenfeld, Sandra, Kretz, Christine, Boué, Joëlle, Tommerup, Niels, Hagen, Carl Van Der, DeLozier-Blanchet, Célia, Croquette, Marie-Françoise, Gilgenkrantz, Simone, Jalbert, Pierre, Voelckel, Marie-Antoinette, Oberlé, Isabelle, Mandel, Jean-Louis
Published in The New England journal of medicine (12.12.1991)
Published in The New England journal of medicine (12.12.1991)
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Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
Beaman, Glenda M, Lopes, Filipa M, Hofmann, Aybike, Roesch, Wolfgang, Promm, Martin, Bijlsma, Emilia K, Patel, Chirag, Akinci, Aykut, Burgu, Berk, Knijnenburg, Jeroen, Ho, Gladys, Aufschlaeger, Christina, Dathe, Sylvia, Voelckel, Marie Antoinette, Cohen, Monika, Yue, Wyatt W, Stuart, Helen M, Mckenzie, Edward A, Elvin, Mark, Roberts, Neil A, Woolf, Adrian S, Newman, William G
Published in Frontiers in genetics (23.06.2022)
Published in Frontiers in genetics (23.06.2022)
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Genetic professionals’ views on genetic counsellors: a French survey
Cordier, Christophe, Taris, Nicolas, Moldovan, Ramona, Sobol, Hagay, Voelckel, Marie-Antoinette
Published in Journal of community genetics (01.01.2016)
Published in Journal of community genetics (01.01.2016)
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Journal Article
A Delphi study to determine the European core curriculum for Master programmes in genetic counselling
Skirton, Heather, Barnoy, Sivia, Ingvoldstad, Charlotta, van Kessel, Ingrid, Patch, Christine, O'Connor, Anita, Serra-Juhe, Clara, Stayner, Barbara, Voelckel, Marie-Antoinette
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
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Journal Article
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients
Moncla, A, Malzac, P, Voelckel, M A, Auquier, P, Girardot, L, Mattei, M G, Philip, N, Mattei, J F, Lalande, M, Livet, M O
Published in European journal of human genetics : EJHG (01.02.1999)
Published in European journal of human genetics : EJHG (01.02.1999)
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Journal Article
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Moncla, Anne, Malzac, Perrine, Livet, Marie-Odile, Voelckel, Marie-Antoinette, Mancini, Josette, Delaroziere, Jean Christophe, Philip, Nicole, Mattei, Jean-François
Published in Journal of medical genetics (01.07.1999)
Published in Journal of medical genetics (01.07.1999)
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Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family
Chauve, X, Missirian, C, Malzac, P, Girardot, L, Guys, J M, Louis, C, Philip, N, Voelckel, M A
Published in American journal of medical genetics (06.11.2000)
Published in American journal of medical genetics (06.11.2000)
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Journal Article
Fragile X syndrome and 22q11.2 microdeletion in the same sibship
Missirian, C, Moncla, A, Voelckel, M A, Ravix, V, Philip, N
Published in American journal of medical genetics (11.12.2000)
Published in American journal of medical genetics (11.12.2000)
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Journal Article
Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
Pang, Junfeng, Zhang, Shu, Yang, Ping, Hawkins-Lee, Bobbilynn, Zhong, Jixin, Zhang, Yushan, Ochoa, Bernardo, Agundez, Jose A.G., Voelckel, Marie-Antoinette, Fisher, Richard B., Gu, Weikuan, Xiong, Wen-Cheng, Mei, Lin, She, Jin-Xiong, Wang, Cong-Yi
Published in American journal of human genetics (09.07.2010)
Published in American journal of human genetics (09.07.2010)
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Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease
STASIA, Marie José, BORDIGONI, Pierre, GUILLOT, Michèle, MAQUET, Elisabeth, MARTEL, Cécile, MOREL, Francoise, FLORET, Daniel, BRION, Jean Paul, BOST-BRU, Cécile, MICHEL, Gérard, GATEL, Pierre, DURANT-VITAL, Denis, VOELCKEL, Marie Antoinette, XING JUN LI
Published in Human genetics (2005)
Published in Human genetics (2005)
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Journal Article
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre
Tuffery-Giraud, Sylvie, Saquet, Céline, Chambert, Sylvie, Echenne, Bernard, Marie Cuisset, Jean, Rivier, François, Cossée, Mireille, Philippe, Christophe, Monnier, Nicole, Bieth, Eric, Recan, Dominique, Antoinette Voelckel, Marie, Perelman, Serge, Lambert, Jean-Claude, Malcolm, Sue, Claustres, Mireille
Published in Neuromuscular disorders : NMD (01.10.2004)
Published in Neuromuscular disorders : NMD (01.10.2004)
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