Zobrazeno 1 - 10
of 22
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:
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:
Stéphane Viville, M. Ben Rhouma, Ozlem Okutman, K. Ben Rhouma, Moncef Benkhalifa, Olfa Tebourbi, Jean Muller, Hatem Bahri
Publikováno v:
Gynécologie Obstétrique Fertilité & Sénologie
Gynécologie Obstétrique Fertilité & Sénologie, Elsevier, 2019, 47, pp.54-62. ⟨10.1016/j.gofs.2018.11.004⟩
Gynécologie Obstétrique Fertilité & Sénologie, Elsevier, 2019, 47, pp.54-62. ⟨10.1016/j.gofs.2018.11.004⟩
Resume Objectif L’objectif de notre revue est de faire le point sur l’etat actuel de la recherche concernant la genetique de l’infertilite masculine. Nous nous concentrerons sur les anomalies genetiques, qui peuvent conduire a une infertilite m
Autor:
Laura Mauring, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Jean Muller
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)
Frontiers in Genetics, Vol 11 (2020)
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however
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
Publikováno v:
Genes, Vol 12, Iss 410, p 410 (2021)
Genes
Volume 12
Issue 3
Genes
Volume 12
Issue 3
Infertility is a global healthcare problem, which affects men and women equally. With the advance of genome-wide analysis, an increasing list of human genes involved in infertility is now available. In order to evaluate the diagnostic interest to ana
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:
Moncef Benkhalifa, Stéphane Viville, Sabine Kliesch, Nicolas Charlet-Berguerand, Munevver Serdarogullari, Angeline Gaucherot, Isabelle Aknin, Ozlem Okutman, Frank Tüttelmann, Viviana Herbepin, Mustafa Bahceci, Meral Gultomruk, Ellen Goossens, Jean Marie Garnier, Valérie Lamour, Yoni Baert, Jean Muller, Emre Bakircioglu, Valerie Skory, Marius Teletin, Albrecht Röpke
Publikováno v:
Journal of Assisted Reproduction and Genetics
Journal of Assisted Reproduction and Genetics, Springer Verlag, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
Journal of Assisted Reproduction and Genetics, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
Journal of Assisted Reproduction and Genetics, Springer Verlag, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
Journal of Assisted Reproduction and Genetics, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
PURPOSE: The purpose of this study was to identify mutations that cause non-syndromic male infertility using whole exome sequencing of family cases. METHODS: We recruited a consanguineous Turkish family comprising nine siblings with male triplets; tw