Publications

Publications 11651 - 11675 de 33557
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Titre DOI
Exome sequencing allows detection of relevant pharmacogenetics variants in epileptic patients
S. Verdez; P. Garret; E. Tisserant; A. Vitobello; T. Mau-Them; C. Philippe; M. Bardou; M. Luu; A. Juliette; C. Verstuyft; P. Callier; C. Thauvin-Robinet; L. Faivre; D. Yannis
2019
Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma
M. Pertesi; M. Vallee; X. Wei; M.V. Revuelta; P. Galia; D. Demangel; J. Oliver; M. Foll; S. Chen; E. Perrial; L. Garderet; J. Corre; X. Leleu; E.M. Boyle; O. Decaux; P. Rodon; B. Kolb; B. Slama; P. Mineur; E. Voog; C. Le Bris; J. Fontan; M. Maigre; M. Beaumont; I. Azais; H. Sobol; M. Vignon; B. Royer; A. Perrot; J.G. Fuzibet; V. Dorvaux; B. Anglaret; P. Cony-Makhoul; C. Berthou; F. Desquesnes; B. Pegourie; S. Leyvraz; L. Mosser; N. Frenkiel; K. Augeul-Meunier; I. Leduc; C. Leyronnas; L. Voillat; P. Casassus; C. Mathiot; N. Cheron; E. Paubelle; P. Moreau; Y.J. Bignon; B. Joly; P. Bourquard; D. Caillot; H. Naman; S. Rigaudeau; G. Marit; M. Macro; I. Lambrecht; M. Cliquennois; L. Vincent; P. Helias; H. Avet-Loiseau; V. Moreno; R.Manuel Reis; J. Varkonyi; M. Kruszewski; A.Juul Vangsted; A. Jurczyszyn; J.Maciej Zaucha; J. Sainz; M. Krawczyk-Kulis; M. Watek; M. Pelosini; E. Iskierka-Jazdzewska; N. Grzasko; J. Martinez-Lopez; A. Jerez; D. Campa; G. Buda; F. Lesueur; M. Dudzinski; R. Garcia-Sanz; A. Nagler; M. Rymko; K. Jamroziak; A. Butrym; F. Canzian; O. Obazee; B. Nilsson; R.J. Klein; S.M. Lipkin; J.D. McKay; C. Dumontet
2019
10.1038/s41375-019-0452-6
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
A. Chassagne; A. Pelissier; F. Houdayer; E. Cretin; E. Gautier; D. Salvi; S. Kidri; A. Godard; C. Thauvin-Robinet; A. Masurel; D. Lehalle; N. Jean-Marcais; J. Thevenon; G. Lesca; A. Putoux; M.P. Cordier; S. Dupuis-Girod; M. Till; Y. Duffourd; J.B. Riviere; L. Joly; C. Juif; O. Putois; P. Ancet; A.S. Lapointe; P. Morin; P. Edery; M. Rossi; D. Sanlaville; S. Bejean; C. Peyron; L. Faivre
2019
10.1038/s41431-018-0332-y
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
S. Valence; L. Burglen; E. Cochet; C. Rougeot; C. Garel; S. Chantot-Bastaraud; E. Lainey; A. Afenjar; M.A. Barthez; N. Bednarek; D. Doummar; L. Faivre; C. Goizet; D. Haye; B. Heron; I. Kemlin; D. Lacombe; M. Milh; M.L. Moutard; F. Riant; S. Robin; A. Roubertie; P. Sarda; A. Toutain; L. Villard; D. Ville; T.Billette de Villemeur; D. Rodriguez
2019
10.1038/s41436-018-0089-2
Exome sequencing of pooled parental DNA: a cost-efficient ``trio-like'' strategy to increase diagnostic yield in developmental disorders
T. Mau-Them; A. Vitobello; Y. Duffourd; A. Bruel; S. Moutton; A. Sorlin; S. Nambot; A. Denomme-Pichon; C. Poe; T. Jouan; M. Chevarin; M. Bordessoules; E. Tisserand; A. Mosca-Boidron; P. Callier; L. Faivre; C. Philippe; C. Thauvin-Robinet
2019
Exome sequencing of pooled parental DNA: a cost-efficient ``trio-like'' strategy to increase diagnostic yield in developmental disorders
T. Mau-Them; A. Vitobello; Y. Duffourd; A. Bruel; S. Moutton; A. Sorlin; S. Nambot; A. Denomme-Pichon; C. Poe; T. Jouan; M. Chevarin; M. Bordessoules; E. Tisserand; A. Mosca-Boidron; P. Callier; L. Faivre; C. Philippe; C. Thauvin-Robinet
2019
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
D.R. Krupp; R.A. Barnard; Y. Duffourd; S.A. Evans; R.M. Mulqueen; R. Bernier; J.B. Riviere; E. Fombonne; B.J. O'Roak
2017
10.1016/j.ajhg.2017.07.016
Exophiala dermatitidis Revealing Cystic Fibrosis in Adult Patients with Chronic Pulmonary Disease
F. Grenouillet; B. Cimon; H. Pana-Katatali; C. Person; M. Gainet-Brun; M.C. Malinge; Y. Le Govic; B. Richaud-Thiriez; J.P. Bouchara
2018
10.1007/s11046-017-0218-5
Exopolysaccharide produced by Weissella confusa: Chemical characterisation, rheology and bioactivity
I.Samira Benhouna; A. Heumann; A. Rieu; J. Guzzo; M. Kihal; G. Bettache; D. Champion; C. Coelho; S. Weidmann
2019
10.1016/j.idairyj.2018.11.006
Exosomal circular RNA circ_0074673 regulates the proliferation, migration, and angiogenesis of human umbilical vein endothelial cells via the microRNA-1200/MEOX2 axis
Y. Huang; B. Liang; X. Chen
2021
10.1080/21655979.2021.1967077
Exosomal HSP70 for Monitoring of Frontotemporal Dementia and Alzheimer's Disease: Clinical and FDG-PET Correlation
G. Chanteloup; M. Cordonnier; T. Moreno-Ramos; V. Pytel; J. Matias-Guiu; J. Gobbo; M.Nieves Cabrera-Martin; U. Gomez-Pinedo; C. Garrido; J.A. Matias-Guiu
2019
10.3233/JAD-190545
Exosomal miRNA: Small Molecules, Big Impact in Colorectal Cancer
V. Vautrot; G. Chanteloup; M. Elmallah; M. Cordonnier; F. Aubin; C. Garrido; J. Gobbo
2019
10.1155/2019/8585276
Exosomes and Other Extracellular Vesicles in HPV Transmission and Carcinogenesis
D. Guenat; F. Hermetet; J.L. Pretet; C. Mougin
2017
10.3390/v9080211
Exosomes contribution in COVID-19 patients' treatment
L. Mazini; L. Rochette; G. Malka
2021
10.1186/s12967-021-02884-5
Exosomes derived from preadipocytes improve osteogenic differentiation, potentially via reduced miR-223 expression
W. Du; L. Su; N. Zhang; H. Wang
2019
10.3892/mmr.2018.9760
Exosomes in cancer theranostic: Diamonds in the rough
M. Cordonnier; G. Chanteloup; N. Isambert; R. Seigneuric; P. Fumoleau; C. Garrido; J. Gobbo
2017
10.1080/19336918.2016.1250999
Exotic Ga-quotients of SL2 x A(1)
A. Dubouloz
2019
10.1007/s40879-019-00355-2
Exotic invasive plants increase productivity, abundance of ammonia-oxidizing bacteria and nitrogen availability in intermountain grasslands
M.Luce McLeod; C.C. Cleveland; Y. Lekberg; J.L. Maron; L. Philippot; D. Bru; R.M. Callaway
2016
10.1111/1365-2745.12584
Exotic states in the strong-field control of H-2(+) dissociation dynamics: from exceptional points to zero-width resonances
A. Leclerc; D. Viennot; G. Jolicard; R. Lefebvre; O. Atabek
2017
10.1088/1361-6455/aa8ca1
Expanded Access Program of Graspa for Treatment of Patients with Acute Lymphoblastic Leukemia Unable to Receive Other Form of L-Asparaginase - a Status Update (NCT02197650)
Y. Bertrand; H. Dombret; B. Quesnel; J.L. Stephan; C. Schmitt; S. Lissandre; M. Poiree; C. Recher; E. Plouvier; C.Dumesnil de Maricourt; D. Salako; Y. Godfrin; I.El Hariry
2015
Expanded Access Program of GRASPA for treatment of patients with acute lymphoblastic leukemia unable to receive other form of L-Asparaginase: A status update (NCT02197650).
Y. Bertrand; H. Dombret; B. Quesnel; S. Lissandre; C. Schmitt; E. Plouvier; C. Recher; M. Poiree; C.Dumesnil de Maricourt; I. El-Hariry
2016
10.1200/JCO.2016.34.15_suppl.e18532
Expanded Mercaptocalixarenes: A New Kind of Macrocyclic Ligands for Stabilization of Polynuclear Thiolate Clusters
F. Schleife; C. Bonnot; J.C. Chambron; M. Boerner; B. Kersting
Submitted
10.1002/chem.202104255
Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics
A. Begemann; H. Sticht; K. McWalter; A. Vitobello; L. Faivre; B. Alhaddad; S. Banka; J. Becker; T. Bierhals; K. Brown; A. Bruel; T. Brunet; M. Carneiro; K. Cremer; R. Day; A. Denomme-Pichon; D.A. Dyment; H. Engels; R. Fisher; M. Glassford; E.S. Goh; M. Hajianpour; L.R.M. Haertel; N. Hauer; M. Hempel; T. Herget; C. Kraus; G. Le Guyader; G. Lesca; F.T. Mau-Them; J.H. McDermott; P. Meyer; K. Ounap; B. Popp; T. Reimand; K.M. Riedhammer; M. Russo; L. Sadleir; E. Schuler; G. Siegel; S. Syrbe; A.T. Van der Ven; A. Verloes; M. Willems; C. Zweier; K. Steindl; M. Zweier; A. Rauch
2020
Expanding the Clinical Phenotype of Patients With a ZDHHC9 Mutation
A. Masurel-Paulet; V.M. Kalscheuer; N. Lebrun; H. Hu; F. Levy; C. Thauvin-Robinet; V. Darmency-Stamboul; S.El Chehadeh; J. Thevenon; S. Chancenotte; M. Ruffier-Bourdet; M. Bonnet; J.M. Pinoit; F. Huet; V. Desportes; J. Chelly; L. Faivre
2014
10.1002/ajmg.a.36348
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
S. Mercier; S. Kuery; E. Salort-Campana; A. Magot; U. Agbim; T. Besnard; N. Bodak; C. Bou-Hanna; F. Breheret; P. Brunelle; F. Caillon; B. Chabrol; V. Cormier-Daire; A. David; B. Eymard; L. Faivre; D. Figarella-Branger; E. Fleurence; M. Ganapathi; R. Gherardi; A. Goldenberg; A. Hamel; J. Igual; A.D. Irvine; D. Israel-Biet; C. Kannengiesser; C. Laboisse; C. Le Caignec; J.Y. Mahe; S. Mallet; S. MacGowan; M.A. McAleer; I. McLean; C. Meni; A. Munnich; J.M. Mussini; P.L. Nagy; J. Odel; G.M. O'Regan; Y. Pereon; J. Perrier; J. Piard; E. Puzenat; J.B. Sampson; F. Smith; N. Soufir; K. Tanji; C. Thauvin; C. Ulane; R.M. Watson; N.P. Khumalo; B.M. Mayosi; S. Barbarot; S. Bezieau
2015
10.1186/s13023-015-0352-4

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