Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Arthur Sorlin"'
Autor:
Florence Petit, Fabienne Giuliano, Juliette Mazereeuw-Hautier, Marjolaine Willems, Christel Thauvin-Robinet, Patricia Blanchet, Laurence Faivre, Elodie Gautier, Anne-Claire Bursztejn, Renaud Touraine, Annick Toutain, Frederico Di Rocco, Maxime Luu, Patrick Edery, Arthur Sorlin, Jean-Luc Alessandri, Nicolas Chassaing, Alice Goldenberg, Christine Chiaverini, Fanny Morice-Picard, Aurore Garde, Stéphanie Arpin, Massimiliano Rossi, Marc Bardou, Claire Nicolas, Gilles Morin, Jenny Cornaton, Cyril Mignot, Christophe Philippe, V. Carmignac, Rodolphe Dard, Joelle Roume, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Pierre Vabres, Didier Lacombe, Diane Doummar, Lucile Pinson, Christine Coubes, Laurent Guibaud, Olivia Boccara
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, n
Autor:
Arthur Sorlin, Antonio Vitobello, Benoit Daubail, Christel Thauvin-Robinet, Marie Hervieu-Bègue, Laurence Faivre, Agnès Fromont, Ange-Line Bruel, Frédéric Tran Mau-Them, Thibault Moreau, Julian Delanne, Guy-Victor Osseby, Quentin Thomas, Patrick Callier, Christophe Philippe, Sébastien Moutton, Maurice Giroud, Anne-Sophie Denommé-Pichon, Agnès Jacquin-Piques, Sophie Nambot, Yannis Duffourd, Philippine Garret, Y Béjot
Publikováno v:
Journal of the Neurological Sciences
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3329cef9705665a2779172bf299f6c60
https://hal.inrae.fr/hal-03463169
https://hal.inrae.fr/hal-03463169
Autor:
Anne Miret, Lola Lemasson, Benjamin Cogné, Laurence Perrin, Frédéric Tran Mau-Them, Rémi Mathevet, Marion Boucon, Elise Schaefer, Christel Thauvin-Robinet, Christine Juif, Juliette Piard, Solène Bourgouin, Jenny Cornaton, Bertrand Isidor, Catherine Sarret, Fabienne Prieur, Coralie Gonin-Olympiade, Alexandra Afenjar, Christine Coubes, Boris Keren, Bénédicte Gérard, Catherine Vincent-Delorme, Kim Giraudat, Laurence Faivre, Amélie Piton, Antonio Vitobello, Thomas Smol, Annick Toutain, Arthur Sorlin, Sylvie Odent, Yann Trousselet, Fanny Tessier, Martin Chevarin, David Geneviève, Sébastien Moutton, Anne-Claire Gelineau, Ange-Line Bruel, Claire Nicolas, Aurore Garde, Philippe Khau-Van-Kien, Christophe Philippe, Solveig Heide
Publikováno v:
Clinical Genetics
Clinical Genetics, 2020, ⟨10.1111/cge.13894⟩
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13894⟩
Clinical Genetics, 2020, ⟨10.1111/cge.13894⟩
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13894⟩
White-Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic pogo transposable element-derived protein with zinc finger d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17d2d648dcff1f210a85420907e1f599
https://hal.science/hal-03124488
https://hal.science/hal-03124488
Autor:
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100812-(2021)
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100812-(2021)
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspe
Autor:
Gaël Nicolas, Yline Capri, Alban Ziegler, Christiane Zweier, Bénédicte Duban-Bedu, Roberta Polli, Neda Mazaheri, Alessandra Murgia, Cindy Colson, Pascale Saugier-Veber, Reza Maroofian, Laurence Perrin, François Lecoquierre, Stephan Waldmüller, Benjamin Cogné, Angelika Rieß, A.S. Lebre, M. Brasseur-Daudruy, Bert Callewaert, Antje Wiesener, Anne-Marie Guerrot, Thierry Frebourg, Thomas Smol, Benjamin Durand, Rebecca Buchert-Lo, Veronka Horber, Tobias B. Haack, Patrick Edery, Gabriella Vera, Gaetan Lesca, Geoffroy Delplancq, Sandra Mercier, Christopher Carroll, Maria Blandfort, Khaoula Zaafrane-Khachnaoui, Hamid Galehdari, Emanuela Leonardi, Arthur Sorlin, Fabienne Giulianno, Isabelle Sabatier, Florence Petit, Licia Turolla, Nicolas Chatron, Amélie Piton, Janine Magg, Estelle Colin, Stéphane Bézieau, Dominique Bonneau
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68443eb210ac2cf30fc6fb87c9f8cf57
https://hal.archives-ouvertes.fr/hal-02904491
https://hal.archives-ouvertes.fr/hal-02904491
Autor:
Sebastien Moutton, Aurore Garde, Laurence Faivre, François Feillet, Christel Thauvin-Robinet, Paul Kuentz, Antonio Vitobello, Frédéric Huet, Arthur Sorlin, Roberto Colombo, Nada Houcinat, Yannis Duffourd, Caroline Racine, Julian Delanne, Christophe Philippe, Daphné Lehalle, Michael J. O'Grady, Julien Thevenon, Frédéric Tran Mau-Them, Bénédicte Héron, Sandrine Marlin, Sophie Nambot
Publikováno v:
American journal of medical genetics. Part A. 179(9)
Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomali
Autor:
Arthur Sorlin, Thomas Cuny, P. Journeau, Georges Weryha, M. Agopiantz, Beatrice Lebon-Labich, Bruno Leheup
Publikováno v:
Annales d'Endocrinologie
Annales d'Endocrinologie, Elsevier Masson, 2016, 77 (1), pp.7-13. ⟨10.1016/j.ando.2016.01.002⟩
Annales d'Endocrinologie, Elsevier Masson, 2016, 77 (1), pp.7-13. ⟨10.1016/j.ando.2016.01.002⟩
International audience; Background: McCune-Albright syndrome is a rare disorder characterized by endocrine disorders, café-au-lait spots and fibrous dysplasia of bone that occurs early in life.Methods: A series of 14 pediatric cases were followed be
Autor:
Arnaud Wiedemann, David Cheillan, Bettina Montaut-Verient, Arthur Sorlin, Gilbert Briand, François Feillet, Emmanuelle Schmitt
Publikováno v:
Neuropediatrics
Neuropediatrics, Thieme Publishing, 2016, 47 (03), pp.179-181. ⟨10.1055/s-0036-1578798⟩
Neuropediatrics, Thieme Publishing, 2016, 47 (03), pp.179-181. ⟨10.1055/s-0036-1578798⟩
International audience; Peroxisome biogenesis disorders (PBD) are a heterogeneous group of disorders due to PEX genesmutations, with a broad clinical spectrum comprising severe neonatal disease to mild presentation. Recently, Berendse et al reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5331760588b9959f8cf2aedeee9bc731
https://hal.univ-lorraine.fr/hal-01661724
https://hal.univ-lorraine.fr/hal-01661724
Autor:
Bruno Leheup, Marc Klein, V. Pascal-Vigneron, Georges Weryha, Thomas Cuny, Céline Bonnet, M. Agopiantz, Arthur Sorlin, Philippe Jonveaux, P. Corbonnois, N. Hubert
Publikováno v:
Journal of Endocrinological Investigation
Journal of Endocrinological Investigation, Editrice Kurtis, 2014, 37 (1), pp.1-7. ⟨10.1007/s40618-013-0001-5⟩
Journal of Endocrinological Investigation, Editrice Kurtis, 2014, 37 (1), pp.1-7. ⟨10.1007/s40618-013-0001-5⟩
International audience; First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in adolescence. The responsible gene, DCAF17 located on chromosome 2q31.1