Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Caroline Beugnet"'
Autor:
Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London, Jean-Baptiste Daudin, Claire Le Jeunne, Luc Mouthon, Dominique Monnet, Cécile Cauquil, Catherine Lacroix, David Adams, Antoine Brézin, Sophie Valleix
Publikováno v:
Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-5 (2017)
Abstract Background Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutat
Externí odkaz:
https://doaj.org/article/f9b53ef458b84e4986511cd3d00801fe
Autor:
ALEJANDRA DARUICH, MATTHIEU P. ROBERT, CAMILLE LEROY, NATHALIE DE VERGNES, CAROLINE BEUGNET, VALERIE MALAN, SOPHIE VALLEIX, DOMINIQUE BREMOND-GIGNAC
Publikováno v:
American Journal of Ophthalmology
American Journal of Ophthalmology, In press, pp.122-129. ⟨10.1016/j.ajo.2021.12.007⟩
American Journal of Ophthalmology, In press, pp.122-129. ⟨10.1016/j.ajo.2021.12.007⟩
International audience; Purpose: To correlate the degree of foveal hypoplasia in congenital aniridia with visual acuity, iris phenotype, and PAX6 mutations.Design: Retrospective case series.Methods: 95 consecutive patients with high quality Spectral-
Autor:
Estelle Desport, Vincent Javaugue, Antoine Durrbach, Didier Samuel, Frank Bridoux, Magali Colombat, Nathalie Quellard, S. Valleix, Thierry Frouget, Jean Philippe Rerolle, Jean-Claude Aldigier, Pierre-Raphaël Rothschild, Caroline Beugnet, Antoine P. Brézin, Nathalie Rioux-Leclercq, Aurélien Tiple, François Paraf, Jean-Michel Goujon
Publikováno v:
Kidney International
Kidney International, 2020, 98 (1), pp.195-208. ⟨10.1016/j.kint.2020.03.033⟩
Kidney International, Nature Publishing Group, 2020, 98 (1), pp.195-208. ⟨10.1016/j.kint.2020.03.033⟩
Kidney International, 2020, 98 (1), pp.195-208. ⟨10.1016/j.kint.2020.03.033⟩
Kidney International, Nature Publishing Group, 2020, 98 (1), pp.195-208. ⟨10.1016/j.kint.2020.03.033⟩
International audience; Apolipoprotein A1 amyloidosis (ApoAI) results from specific mutations in the APOA1 gene causing abnormal accumulation of amyloid fibrils in diverse tissues. The kidney is a prominent target tissue in ApoAI amyloidosis with a r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dcd8d55f01a3b13d0f19dff34b13181
https://hal.science/hal-03228634/file/S0085253820304178.pdf
https://hal.science/hal-03228634/file/S0085253820304178.pdf
Autor:
Magali Colombat, Antoine P. Brézin, Astrid Queant, Claire Le Jeunne, Jean-Baptiste Daudin, Cécile Cauquil, Jonathan London, Benjamin Terrier, Dominique Monnet, Catherine Lacroix, Caroline Beugnet, Luc Mouthon, David Adams, S. Valleix
Publikováno v:
Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-5 (2017)
Journal of Medical Case Reports
Journal of Medical Case Reports
Background Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have
Autor:
Lucie Orhant, Olivia Anselem, Mélanie Fradin, Pierre Hadrien Becker, Caroline Beugnet, Nathalie Deburgrave, Gilles Tafuri, Franck Letourneur, François Goffinet, Laïla Allach El Khattabi, France Leturcq, Thierry Bienvenu, Vassilis Tsatsaris, Juliette Nectoux
Publikováno v:
Prenatal Diagnosis. 36:397-406
Achondroplasia is generally detected by abnormal prenatal ultrasound-findings in the third trimester of pregnancy, and then confirmed by molecular genetic testing of fetal genomic DNA obtained by aspiration of amniotic fluid. This invasive procedure
Autor:
I Morgado, S. Valleix, Antoine P. Brézin, Caroline Beugnet, Pierre-Raphaël Rothschild, Didier Samuel, JP Rerolle, T Frouget, O Gursky, F Paraf, A Durrbach, N Rioux-Leclercq, Madhurima Das, Afra Panahi, M Colombat, AG Burwash, J Aldigier, J Goujon, John E. Straub
Hereditary apolipoprotein A-I (apoA-I) amyloidosis (AApoAI) is a life-threatening incurable genetic disorder whose molecular underpinnings and the full spectrum of afflicted organs are unclear. We report a new form of AApoAI with amyloid deposition i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117fb2043f8959d5b17e6af5bd083515
https://doi.org/10.1101/354001
https://doi.org/10.1101/354001
Autor:
Madiha Trabelsi, Caroline Beugnet, Nathalie Deburgrave, Virgine Commere, Lucie Orhant, France Leturcq, Jamel Chelly
Publikováno v:
Neuromuscular Disorders. 24:1111-1117
Duchenne and Becker muscular dystrophy are X-linked allelic disorders caused by mutations in the DMD gene. The majority (65%) of these mutations are intragenic deletions/duplications that often lead to frameshift errors. Among the remaining ones, we
Autor:
Matthieu P. Robert, Vincent Morinière, C. Fourrage, S. Valleix, C. Burin des Roziers, Dominique Bremond-Gignac, Caroline Beugnet
Publikováno v:
Acta Ophthalmologica. 95
Autor:
Vincent Morinière, Matthieu P. Robert, D. Lacombe, C. Burin des Roziers, Dominique Bremond-Gignac, L. Hoffart, Marc Muraine, Caroline Beugnet, Bernard Delbosc, Christian P. Hamel, Brigitte Nedelec, J.L. Bourges, S. Valleix, C. Fourrage
Publikováno v:
Acta Ophthalmologica. 95
Autor:
Ahmet Dogan, S. Valleix, Gilles Grateau, Nathalie Rioux-Leclercq, Franck Bridoux, Renan Goude, Jean Doucet, Cyrille Garnier, F. Briki, Philippe Derreumaux, Marc Delpech, Patrick Le Pogamp, Brigitte Nedelec, Laurent Martin, Caroline Beugnet
Publikováno v:
Blood
Blood, American Society of Hematology, 2017, 130 (25), pp.2799-2807. 〈10.1182/blood-2017-07-796185〉
Blood, American Society of Hematology, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
Blood, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
Blood, American Society of Hematology, 2017, 130 (25), pp.2799-2807. 〈10.1182/blood-2017-07-796185〉
Blood, American Society of Hematology, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
Blood, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
International audience; The first case of hereditary fibrinogen A alpha-chain amyloidosis was recognized >20 years ago, but disease mechanisms still remain unknown. Here we report detailed clinical and proteomics studies of a French kindred with a no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78719ea460bf43d3e88b8fc9e51145d6
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01688181/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01688181/document