Hipertermia maligna de la anestesia

Autor: F Julien-Marsollier, C Bosson, J F Payen, Nathalie Roux-Buisson, Julien Fauré, B Bruneau, A F Dalmas

Publikováno v: EMC - Anestesia-Reanimación. 45:1-12

Resumen La hipertermia maligna (HM) de la anestesia es una enfermedad farmacogenetica que se manifiesta de manera inconstante por un estado de hipermetabolismo del musculo esqueletico durante la exposicion a un agente anestesico volatil desencadenant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6c6c414193a50b02c143a4fcef01f51b
https://doi.org/10.1016/s1280-4703(19)42971-x

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Autor: John Rendu, Julien Fauré, Laurent Pelletier, Pierre G. Carlier, Laurent Servais, Norma B. Romero, Andreea Mihaela Seferian, Véronique Forin, Edoardo Malfatti, Teresa Gidaro, Jessica Taytard, E. Gargaun, C Bosson

Publikováno v: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2016, 26 (10), pp.712-716. ⟨10.1016/j.nmd.2016.07.011⟩
Neuromuscular Disorders, 2016, 26 (10), pp.712-716. ⟨10.1016/j.nmd.2016.07.011⟩

International audience; Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c03472c28696fac7cb680a4d895da5
https://ora.ox.ac.uk/objects/uuid:43154ac0-2645-4b93-9953-e7c29f109444

PBX1haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Autor: Françoise Devillard, Marie Bidart, Véronique Satre, Pierre-Simon Jouk, Pauline Le Tanno, Frédérique Béna, Pierre F. Ray, Klaus Dieterich, Ida Vogel, Julie Breton, Maria Antonietta Pisanti, Charles Coutton, Hervé Sartelet, Luisa Mackenroth, Siv Fokstuen, M. C. Digilio, Fitsum Guebre-Egziabher, Alexia Apostolou, Karl Hackmann, C Bosson, Rikke Christensen, Sylvie Odent, Antonio Novelli, Radu Harbuz, Rachel Beddow, Gemma Poke, Laura Bernardini, Sylvie Jaillard, Gaëlle Vieville, Florence Amblard

Publikováno v: Le Tanno, P, Breton, J, Bidart, M, Satre, V, Harbuz, R, Ray, P F, Bosson, C, Dieterich, K, Jaillard, S, Odent, S, Poke, G, Beddow, R, Digilio, M C, Novelli, A, Bernardini, L, Pisanti, M A, Mackenroth, L, Hackmann, K, Vogel, I, Christensen, R, Fokstuen, S, Béna, F, Amblard, F, Devillard, F, Vieville, G, Apostolou, A, Jouk, P-S, Guebre-Egziabher, F, Sartelet, H & Coutton, C 2017, ' PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans ', Journal of Medical Genetics, vol. 54, no. 7, pp. 502-510 . https://doi.org/10.1136/jmedgenet-2016-104435

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular cause of CAKUT but the culprit gene r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66666cd0586cface1fed31d3f6b63bf4
https://doi.org/10.1136/jmedgenet-2016-104435

Microdeletion del(22)(q12.1) excluding theMN1gene in a patient with craniofacial anomalies

Autor: Françoise Devillard, Pierre-Simon Jouk, Gaëlle Vieville, Florence Amblard, Fanny Dubois-Teklali, Klaus Dieterich, Sophie Brouillet, Béatrice Morand, Joris Andrieux, Charles Coutton, Véronique Satre, Pierre F. Ray, C Bosson

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (2), pp.498-503. ⟨10.1002/ajmg.a.37450⟩
American Journal of Medical Genetics Part A, 2016, 170 (2), pp.498-503. ⟨10.1002/ajmg.a.37450⟩

International audience; Several studies have recently reported that 22q12.1 deletions encompassing the MN1 gene are associated with craniofacial anomalies. These observations are consistent with the hypothesis that MN1 haploinsufficiency may be solel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf4313e0899109ca296779c9a21cb039
https://doi.org/10.1002/ajmg.a.37450

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

Autor: Pierre-Simon Jouk, Pierre F. Ray, Jeanne Amiel, Jill Clayton-Smith, Marie Bidart, Véronique Satre, Sarra Miladi, Alessandra Renieri, Daphné Lehalle, Françoise Devillard, Michèle El Atifi, John Rendu, François Berger, Charles Coutton, C Bosson, Julien Thevenon, Margherita Baldassarri, Valérie Malan, Gaëlle Vieville, Maria Antonietta Mencarelli, Florence Amblard

To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array–comparative genomic hybridization . We performed c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::880d23a7ef1067425530ab3d32bd4e57
http://hdl.handle.net/11365/1006635