Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Arthur Sorlin"'
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:
Nicolas Richard, Martin Kaufmann, Arnaud Wiedemann, Marie-Laure Kottler, Arthur Sorlin, Nick Demers, François Feillet, Georges Weryha, Hervé Mittre, Nadia Coudray, Jérémy Do Cao, Genevieve Abeguile, Brigitte Dousset, Arnaud Molin, Laurent Mainard, Glenville Jones, Pierre Journeau
Publikováno v:
Journal of Bone and Mineral Research. 32:1893-1899
Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of
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:
Arthur Sorlin, I. Koscinski, M. Agopiantz, Pierre Vabres, Céline Bonnet, Guillaume Gauchotte, F. Guillet-May
Publikováno v:
Annales d'Endocrinologie. 79:256
La plupart des filles porteuses d’un syndrome de McCune Albright (SMA) presentent une puberte precoce, causee par le developpement de kystes ovariens responsables d’une hyperestrogenie. Apres la puberte, peuvent etre retrouves troubles du cycle e
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