Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Françoise Bergametti"'
Autor:
Stéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, Guillaume Ha, Chaker Aloui, Françoise Bergametti, Minh Arnould, Hind Guenou, Jessica Hadjadj, Fanny Dubois Teklali, Florence Riant, Jean-Luc Balligand, Georges Uzan, Bruno O. Villoutreix, Elisabeth Tournier-Lasserve
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract Background Moyamoya angiopathy (MMA) is a rare cerebrovascular condition leading to stroke. Mutations in 15 genes have been identified in Mendelian forms of MMA, but they explain only a very small proportion of cases. Our aim was to investig
Externí odkaz:
https://doaj.org/article/6cabf2f8d5794295b9752b231297c26a
Autor:
Laure Delaval, Karine Nguyen, J. Cogez, Romain Schneckenburger, Eric Jouvent, Valérie Lauer, Fatoumata Ba, Matthias Lamy, Cédric Urbanczyk, Igor Raynouard, Françoise Bergametti, Jérémie Dassa, Livia Lanotte, Valérie Layet, Elisabeth Tournier-Lasserve, Jean Philippe Neau, Mira Didic, Alexandru Florea, Cédric Gollion, Carmen Badiu, Thibault Coste, Dominique Hervé, Nathalie Derache, Maude Grelet
Publikováno v:
Brain. 144:2616-2624
Heterozygous missense HTRA1 mutations have been associated with an autosomal dominant cerebral small vessel disease (CSVD) whereas the pathogenicity of heterozygous HTRA1 stop codon variants is unclear. We performed a targeted high throughput sequenc
Autor:
Dongchuan Guo, Natasha Kharas, Michael J. Bamshad, Ellen M. Hostetler, Stephanie E. Wallace, Stéphanie Guey, Markus Kraemer, Anjail Sharrief, Ellen S. Regalado, Deborah A. Nickerson, Alana C. Cecchi, Manoelle Kossorotoff, Elisabeth Tournier-Lasserve, Amélie Pinard, Françoise Bergametti, Dianna M. Milewicz, Edward R. Smith, Dominique Hervé
Publikováno v:
Genet Med
PURPOSE: Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not ha
Autor:
Chaker Aloui, Hélène Morel, Florian Savenier, Kilan Le Guennec, Emilien Bernard, Julien Cogez, Waliyde Jabeur, Edgard Verdura, Jessica Lebenberg, Emmanuelle Génin, Geneviève Demarquay, Hugues Chabriat, Françoise Bergametti, Thomas Ludwig, Gaëlle Marenne, Dominique Hervé, Panagiotis Bachoumas, Elisabeth Tournier-Lasserve, Thibault Coste, Guillaume Mathey
Publikováno v:
Annals of neurologyReferences. 90(6)
OBJECTIVE The majority of patients with a familial cerebral small vessel disease (CSVD) referred for molecular screening do not show pathogenic variants in known genes. In this study, we aimed to identify novel CSVD causal genes. METHODS We performed
Autor:
Dominique Vidaud, Florence Riant, Lou Grangeon, Chaker Aloui, Françoise Bergametti, Jan Claudius Schwitalla, Markus Kraemer, Jessica Hadjadj, Stéphanie Guey, Severine Drunat, Minh Arnould, Michaelle Corpechot, Elisabeth Tournier-Lasserve
Publikováno v:
Stroke. 50:789-796
Background and Purpose Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy outside of Asia. In Japanese patients, a vast majority of patients carry the founder p.R4810K variant in the RNF213 gene, and familial cases are around 10%. In European
Autor:
Florence Riant, Françoise Bergametti, Paul Petit, Christian Denier, Aurélien Nouet, Annabelle Chaussenot, Géraldine Viot, Elisabeth Tournier-Lasserve, François Viallet, Dominique Hervé, Marie Pierre Brechard, Christophe Verny, Pierre Labauge
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (6), pp.400-404. ⟨10.1136/jmedgenet-2019-106401⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (6), pp.400-404. ⟨10.1136/jmedgenet-2019-106401⟩
BackgroundCerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67d71b20ea651f97cb9aff0885a310f
https://hal.umontpellier.fr/hal-03421002
https://hal.umontpellier.fr/hal-03421002
Autor:
F. Riant, Olivier Lambotte, Catherine Buffet, G. Nasser, A. Bisserbe, C. Denier, Ali G. Turhan, G. Tertian, Françoise Bergametti, Elisabeth Tournier-Lasserve, P. Alvin, M. Tardieu
Publikováno v:
Revue Neurologique. 171:445-449
Cerebro-retinal microangiopathy with calcifications and cysts (CRMCC) or Coats plus syndrome is a pleiotropic disorder affecting the eyes, brain, bone and gastrointestinal tract. Its primary pathogenesis involves small vessel obliterative microangiop
Autor:
Florence Riant, Mark L. Kahn, Xiangjian Zheng, Elisabeth Tournier-Lasserve, Cynthia D. Myers, Jisheng Yang, Benjamin Kleaveland, Wei Pan, Françoise Bergametti, Alan T. Tang
Publikováno v:
Stroke. 45:1505-1509
Background and Purpose— The Heart of Glass (HEG) receptor binds KRIT1 and functions with KRIT1, CCM2, and PDCD10 in a common signaling pathway required for heart and vascular development. Mutations in KRIT1, CCM2 , and PDCD10 also underlie human ce
Autor:
Françoise Bergametti, Michel Zerah, Peter Brouckaert, Marilyne Lebret, Sabine Roman, Stéphanie Guey, Anne Philippi, Kareen Billiemaz, Sandrine Passemard, Xavier Dray, Frédéric Adam, Hugues Chabriat, Gwénola Boulday, Dominique Hervé, Christian Sainte-Rose, Valérie Krivosic, Maryjke Bryckaert, Aurore Essongue, Stéphane Chabrier, Eliane Berrou, Emmanuel Houdart, Reda Belbouab, Sophie Collardeau-Frachon, Audrey Delaforge, Elisabeth Tournier-Lasserve
Publikováno v:
The American Journal of Human Genetics. 94(3):385-394
Moyamoya is a cerebrovascular condition characterized by a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and the compensatory development of abnormal "moyamoya" vessels. The pathophysiological mechanisms of this co
Autor:
Manoelle Kossorotoff, Céline Bellesme, Audrey Delaforge, Stanislas Lyonnet, Stéphanie Guey, Lou Grangeon, Jeanne Amiel, Francis Brunelle, Minh Arnould, Françoise Bergametti, Dominique Hervé, Jan Claudius Schwitalla, Béatrice Desnous, Markus Kraemer, Elisabeth Tournier-Lasserve
Publikováno v:
Journal of medical genetics. 54(8)
Background Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifes