Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Jean Muller"'
Autor:
Dan Lipsker, Marie-Cécile Manière, Jean Muller, Agathe Chammas, Aymeric Courval, Véronique Geoffroy, Elise Schaefer, Salma Adham, Salima El Chehadeh, Clarisse Billon, Sébastien Gaertner, Karelle Bénistan, Corinne Stoetzel, Agnès Bloch-Zupan, Anne-Claire Bursztejn, Anthony Reyre, Laurence Bal, Hélène Dollfus, Anne Legrand, Roland Jaussaud, Tiffany Busa, Xavier Jeunemaitre, Catherine Petit
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 100 (2), pp.206-212. ⟨10.1111/cge.13972⟩
Clinical Genetics, 2021, 100 (2), pp.206-212. ⟨10.1111/cge.13972⟩
Periodontal Ehlers-Danlos syndrome (pEDS) is a rare condition caused by pathogenic variants in the C1R and C1S genes, encoding subunits C1r and C1s of the first component of the classical complement pathway. It is characterized by early-onset periodo
Autor:
Anne Legrand, Xavier Jeunemaitre, Aymeric Courval, Elise Schaefer, Roland Jaussaud, Clarisse Billon, Agathe Chammas, Corinne Stoetzel, Marie-Cécile Manière, Sébastien Gaertner, Anthony Reyre, Agnès Bloch-Zupan, Dan Lipsker, Jean Muller, Salima El Chehadeh, Tiffany Busa, Laurence Bal, Hélène Dollfus, Catherine Petit, Karelle Benistan, Véronique Geoffroy, Salma Adham, Anne-Claire Bursztejn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60e47faac66c9b3a76dc083fec421114
https://doi.org/10.1111/cge.13972/v2/response1
https://doi.org/10.1111/cge.13972/v2/response1
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:
Claire Ewenczyk, Mathilde Renaud, Claire Guissart, Solveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, André Pierre Legrand, Alexandra Durr, Mathieu Anheim, Jean Muller, Christine Tranchant, Michel Koenig, Vincent Laugel
Publikováno v:
Parkinsonism and Related Disorders
Parkinsonism and Related Disorders, Elsevier, 2017, 38, pp.80-84. ⟨10.1016/j.parkreldis.2017.02.012⟩
Parkinsonism & Related Disorders
Parkinsonism & Related Disorders, 2017, 38, pp.80-84. ⟨10.1016/j.parkreldis.2017.02.012⟩
Parkinsonism and Related Disorders, Elsevier, 2017, 38, pp.80-84. ⟨10.1016/j.parkreldis.2017.02.012⟩
Parkinsonism & Related Disorders
Parkinsonism & Related Disorders, 2017, 38, pp.80-84. ⟨10.1016/j.parkreldis.2017.02.012⟩
Introduction Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorder
Autor:
Mireille Claustres, Christine Tranchant, Martial Mallaret, Michel Koenig, Nathalie Drouot, Mathilde Renaud, Claire Guissart, Jean Muller, Sacha Ferdinandusse, David Cheillan, Mathieu Anheim
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2016, 263 (8), pp.1552-8. ⟨10.1007/s00415-016-8167-3⟩
Journal of neurology, 263(8), 1552-1558. D. Steinkopff-Verlag
Journal of Neurology, Springer Verlag, 2016, 263 (8), pp.1552-8. ⟨10.1007/s00415-016-8167-3⟩
Journal of neurology, 263(8), 1552-1558. D. Steinkopff-Verlag
International audience; Peroxisomal biogenesis disorders (PBDs) consist of a heterogeneous group of autosomal recessive diseases, in which peroxisome assembly and proliferation are impaired leading to severe multisystem disease and early death. PBDs
Autor:
Stéphane Kremer, N. Goetz, Sébastien Molière, Hélène Dollfus, Sophie Riehm, Vincent Noblet, Vincent Marion, Jean Muller, J.-J. Braun
Publikováno v:
Clinical Genetics. 90:79-83
Olfactory bulb (OB) volume evaluation by magnetic resonance imaging (MRI) has been demonstrated to be related to olfactory dysfunction in many different diseases. Olfactory dysfunction is often overlooked in Bardet-Biedl syndrome (BBS) patients and i
Autor:
Patrick Callier, Angélique Quartier, Matthieu Jung, Brigitte Gilbert-Dussardier, Vincent des Portes, Claire Feger, Bernard Jost, Bénédicte Gérard, Stéphanie Le Gras, Daphné Lehalle, Elsa Nourisson, Anne-Sophie Casteleyn, Claire Redin, Julien Thevenon, Anne-Laure Mosca-Boidron, Laurence Faivre, Hélène Poquet, Frédéric Huet, Paul Kuentz, Christel Thauvin-Robinet, Véronique Geoffroy, Jean-Louis Mandel, Massimiliano Rossi, Gaetan Lesca, Alice Masurel, Patrick Edery, Benoit Trojak, Salima El Chehadeh, Stéphanie Maury, Jean Muller, Amélie Piton
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. 〈http://www.nature.com〉. 〈10.1038/ejhg.2016.204〉
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. 〈http://www.nature.com〉. 〈10.1038/ejhg.2016.204〉
International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8096765ee7003b1568cbf3022e0ec345
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560313
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560313
Autor:
Vincent Noblet, Stéphane Kremer, Hélène Dollfus, Sophie Riehm, J.-J. Braun, Jack R. Foucher, Sophie Scheidecker, A. Zinetti-Bertschy, Myriam Durand, Jean Muller, Vincent Marion
Publikováno v:
Clinical Genetics. 86:521-529
Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and cognitive impairment. Recently, disorders of olfaction (anosmia, hy
Autor:
Dan Lipsker, C. Perrigouard, B. Aral, Elisabeth Flori, Jean Muller, Hélène Dollfus, Eric Frouin, Corinne Stoetzel, C. Merklen-Djafri, Bérénice Doray, Mélanie Fradin
Publikováno v:
Dermatology. 226:353-357
The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in the
Autor:
Martial Mallaret, Mathilde Renaud, Claire Redin, Nathalie Drouot, Jean Muller, Francois Severac, Jean Louis Mandel, Wahiba Hamza, Traki Benhassine, Lamia Ali-Pacha, Meriem Tazir, Alexandra Durr, Marie-Lorraine Monin, Cyril Mignot, Perrine Charles, Lionel Van Maldergem, Ludivine Chamard, Christel Thauvin-Robinet, Vincent Laugel, Lydie Burglen, Patrick Calvas, Marie-Céline Fleury, Christine Tranchant, Mathieu Anheim, Michel Koenig
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2016, 263 (7), pp.1314-1322. 〈http://link.springer.com/article/10.1007%2Fs00415-016-8112-5〉. 〈10.1007/s00415-016-8112-5〉
Journal of Neurology, Springer Verlag, 2016, 263 (7), pp.1314-1322. ⟨10.1007/s00415-016-8112-5⟩
Journal of Neurology, 2016, 263 (7), pp.1314-1322. ⟨10.1007/s00415-016-8112-5⟩
Journal of Neurology, Springer Verlag, 2016, 263 (7), pp.1314-1322. 〈http://link.springer.com/article/10.1007%2Fs00415-016-8112-5〉. 〈10.1007/s00415-016-8112-5〉
Journal of Neurology, Springer Verlag, 2016, 263 (7), pp.1314-1322. ⟨10.1007/s00415-016-8112-5⟩
Journal of Neurology, 2016, 263 (7), pp.1314-1322. ⟨10.1007/s00415-016-8112-5⟩
International audience; Establishing a molecular diagnosis of autosomal recessive cerebellar ataxias (ARCA) is challenging due to phenotype and genotype heterogeneity. We report the validation of a previously published clinical practice-based algorit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efb29e36def2c2c26f96136dcb304806
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405178
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405178