Zobrazeno 1 - 10
of 29
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:
Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L. Vincent, Tomas S. Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P. Leroy, Jason T. Maynes, Francis L. Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon
Publikováno v:
Investigative Ophthalmology and Visual Science, vol 62, iss 15
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26
PURPOSE. The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10. METHODS. Patients were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3812f62ba93f17ebe71aafaf621e64e9
https://escholarship.org/uc/item/4f15j5sp
https://escholarship.org/uc/item/4f15j5sp
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:
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
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
Autor:
Béatrice Lannes, Stéphane Kremer, Jean Muller, Bruno Rinaldi, Séverine Bär, Valérie Pelletier, Hubert Dominique Becker, Véronique Geoffroy, Frédéric Fischer, Christine Tranchant, Cécile Acquaviva-Bourdain, Sylvie Friant, Hélène Dollfus, Cécile Pagan, Sophie Scheidecker, Marc Mirande, Corinne Stoetzel
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2019, 40 (10), pp.1826-1840. ⟨10.1002/humu.23799⟩
Human Mutation, 2019, 40 (10), pp.1826-1840. ⟨10.1002/humu.23799⟩
Human Mutation, Wiley, 2019, 40 (10), pp.1826-1840. ⟨10.1002/humu.23799⟩
Human Mutation, 2019, 40 (10), pp.1826-1840. ⟨10.1002/humu.23799⟩
Mutations in genes encoding aminoacyl‐tRNA synthetases have been reported in several neurological disorders. KARS is a dual localized lysyl‐tRNA synthetase and its cytosolic isoform belongs to the multiple aminoacyl‐tRNA synthetase complex (MSC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978b8e30f9d38a20be2658422304bdbf
https://hal.archives-ouvertes.fr/hal-02164041
https://hal.archives-ouvertes.fr/hal-02164041
Autor:
Umut Büyük, Firat Tulek, Nicolas Charlet-Berguerand, Cem Demirel, Véronique Pfister, Jean Muller, Stéphane Viville, Ozlem Okutman
Publikováno v:
Genes
Genes, MDPI, 2020, 11 (4), pp.382. ⟨10.3390/genes11040382⟩
Volume 11
Issue 4
Genes, Vol 11, Iss 382, p 382 (2020)
Genes, MDPI, 2020, 11 (4), pp.382. ⟨10.3390/genes11040382⟩
Volume 11
Issue 4
Genes, Vol 11, Iss 382, p 382 (2020)
In vitro fertilization (IVF) involves controlled ovarian hyperstimulation using hormones to produce large numbers of oocytes. The success of IVF is tightly linked to the availability of mature oocytes. In most cases, about 70% to 80% of the oocytes a
Autor:
Carla Ribeiro, Silvia Munari, Giulio Cabrini, Roberto Gambari, Francesca Salvatori, Jean Muller, Paolo Pinton, Alessandro Rimessi, Maria Cristina Dechecchi, Valentino Bezzerri, Alessandra Santangelo, Giuseppe Lippi, Nicolas Garreau de Loubresse, Anna Tamanini, Federica Nigro, Lisa Provezza, Paola Prandini
Publikováno v:
American Journal of Respiratory Cell and Molecular Biology
American Journal of Respiratory Cell and Molecular Biology, 2018, 59 (4), pp.428-436. ⟨10.1165/rcmb.2017-0267OC⟩
American Journal of Respiratory Cell and Molecular Biology, 2018, 59 (4), pp.428-436. ⟨10.1165/rcmb.2017-0267OC⟩
International audience; The lungs of patients with cystic fibrosis (CF) are characterized by an exaggerated inflammation driven by secretion of IL-8 from bronchial epithelial cells and worsened by Pseudomonas aeruginosa infection. To identify novel a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cce443ff6368d4f8e9eba405366cf60
http://hdl.handle.net/11392/2395928
http://hdl.handle.net/11392/2395928