Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Manuela Antin"'
Autor:
Corinne Stoetzel, Richard Redon, Erica E. Davis, Véronique Geoffroy, Jean-Louis Mandel, Georgios Kellaris, Samuel Nicaise, Joakim Klar, Clarisse Delvallée, Anne Sophie Leuvrey, Florence Demurger, Manuela Antin, Emmanuelle Génin, Boris Keren, Nicholas Katsanis, Niklas Dahl, Sophie Scheidecker, Elsa Nourisson, Jean Muller, Hélène Dollfus, Jean-François Deleuze, Christel Depienne, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Carmen C. Leitch, Koenraad Devriendt, Sylvie Odent
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clin Genet
Clinical Genetics, Wiley, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clin Genet
Clinical Genetics, Wiley, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
International audience; Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases.
Autor:
Kirsley Chennen, Philippe Loget, Alix Clemenson, Elise Schaefer, Marie-Josée Perez, Elsa Nourisson, Laura Mary, Corinne Stoetzel, Bernard Gasser, Jean Muller, Annie Buenerd, Lucile Pinson, Louise Devisme, Florence Petit, Olivier Poch, Anne Sophie Leuvrey, Fabien Guimiot, Patrice Bouvagnet, Caroline Rooryck-Thambo, Brigitte Leroy, Manuela Antin, Tania Attié-Bitach, Jelena Martinovic, Fanny Pelluard, Raymonde Bouvier, Hélène Dollfus, Brigitte Gilbert-Dussardier, Elisabeth Alanio-Detton, Maria Cristina Antal, Philippe Khau Van Kien
Publikováno v:
Clinical Genetics. 95:384-397
Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the
Autor:
Sylvie Odent, Carmen C. Leitch, Michèle Mathieu-Dramard, Koenraad Devriendt, Clarisse Delvallée, Hélène Dollfus, Véronique Geoffroy, Erica E. Davis, Elsa Nourisson, Georgios Kellaris, Samuel Nicaise, Niklas Dahl, Corinne Stoetzel, Nicholas Katsanis, Jean-Francois Deleuze, Florence Demurger, Emmanuelle Génin, Manuela Antin, Joakim Klar, Richard Redon, Sophie Scheidecker, Christine Poitou-Bernert, J. L. Mandel, Anne-Sophie Leuvrey, Boris Keren, Jean Muller, Christel Depienne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b8b1a7a3095985cc6db35580cb1e2f
https://doi.org/10.1111/cge.13878/v3/response1
https://doi.org/10.1111/cge.13878/v3/response1
Autor:
Sophie Scheidecker, Hugues Flodrops, Jean-Luc Alessandri, Corinne Stoetzel, Aurélie Gouronc, Hélène Dollfus, Manuela Antin, Paul Gueguen, Marie-Line Jacquemont, Bérénice Doray, Françoise Darcel, Frédérique Payet, Hanitra Randrianaivo, Vincent Zilliox, Jean Muller, Elsa Nourisson, Anne-Sophie Leuvrey
Publikováno v:
Clinical geneticsREFERENCES. 98(2)
Bardet-Biedl syndrome (BBS) is a rare ciliopathy with variable retinal dystrophy, polydactyly, renal abnormalities, obesity, cognitive impairment, and hypogonadism. Biallelic pathogenic variants have been identified in 24 genes, leading to BBS in an
Autor:
Séverine Bär, Anne Boland, Hélène Blanché, Steven McGinn, Dominique Martin-Coignard, Katja Kloth, Hélène Dollfus, Elise Schaefer, Corinne Stoetzel, Anne-Sophie Leuvrey, Sophie Scheidecker, Günter Klaus, Jean Muller, Jean-François Deleuze, Eva Decker, Véronique Geoffroy, Charline Henry, Christoph J. Mache, Manuela Antin, Carsten Bergmann, Marion Delbarre, Ariane Kröll, Jean-Michel Rozet, Sylvie Friant, Isabelle Perrault, Sophie Saunier
Publikováno v:
Human Mutation. 39:983-992
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using
Autor:
Louise Devisme, E. Alanio-Detton, Anne Sophie Leuvrey, Kirsley Chennen, Raymonde Bouvier, Hélène Dollfus, Olivier Poch, Elsa Nourisson, Brigitte Gilbert-Dussardier, Fabien Guimiot, Maria Cristina Antal, Patrice Bouvagnet, Laura Mary, Lucile Pinson, Bernard Gasser, Jean Muller, Jelena Martinovic, Manuela Antin, Annie Buenerd, Tania Attié-Bitach, Corinne Stoetzel, Alix Clemenson, C. Rooryck, Philippe Loget, Fanny Pelluard, Elise Schaefer, P. Khau Van Kien, Brigitte Leroy, Florence Petit, Marie-Josée Perez
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a500b23d4a3258f3e74670d00af5705a
https://doi.org/10.1111/cge.13500/v2/response1
https://doi.org/10.1111/cge.13500/v2/response1
Autor:
Geoffrey Woods, Deepika Singh, Bernard Echenne, Sonja Finck, Manuela Antin, Mireille Cossée, Bénédicte Demeer, Jean-Louis Mandel, Vera M. Kalscheuer, Kelly Springell, Louis Vallee, Hélène Dollfus, Sridevi Hegde, B.K. Thelma, Patricia Blanchet, Olivier Hagens
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (4), pp.418-25. ⟨10.1038/sj.ejhg.5201593⟩
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (4), pp.418-25. ⟨10.1038/sj.ejhg.5201593⟩
International audience; Mutations in PQBP1 were recently identified in families with syndromic and non-syndromic X-linked mental retardation (XLMR). Clinical features frequently associated with MR were microcephaly and/or short stature. The predomina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0344f4d8a45b7a4fa8ac8e9c79b175
https://hal.archives-ouvertes.fr/hal-00187864
https://hal.archives-ouvertes.fr/hal-00187864