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2019

Articles

11 - 

Natural models for retinitis pigmentosa progressive retinal atrophy in dog breeds

M. Bunel, G. Chaudieu, C. Hamel, L. Lagoutte, G. Manes et al.

Human Genetics, 2019, 138 (5), pp.441-453.

DOI : https://doi.org/10.1007/s00439-019-01999-6

Pubmed : 30904946

 

12 - 

Liposomes Containing Nickel-Bis(dithiolene) Complexes for Photothermal Theranostics

Mathieu Ciancone, Nathalie Bellec, Sandrine Cammas-Marion, Aneline Dolet, Didier Vray et al.

Langmuir, 2019, 35 (47), pp.15121-15130.

DOI : https://doi.org/10.1021/acs.langmuir.9b01296

Pubmed : 31682444

 

13 - 

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent et al.

Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.180.

DOI : https://doi.org/10.1186/s13023-019-1064-y

Pubmed : 31324220

 

14 - 

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard et al.

American Journal of Human Genetics, 2019, 104 (3), pp.530-541.

DOI : https://doi.org/10.1016/j.ajhg.2019.01.010

Pubmed : 30827496

 

15 - 

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

Hélène Coignard-Biehler, Nizar Mahlaoui, Benoît Pilmis, Vincent Barlogis, Pauline Brosselin et al.

Journal of Clinical Immunology, 2019, 39 (7), pp.702-712.

DOI : https://doi.org/10.1007/s10875-019-00658-9

Pubmed : 31401750

 

16 - 

Neuro-radiological characteristics of adult diffuse grade II and III insular gliomas classified according to WHO 2016

Paloma Compes, Emeline Tabouret, Amandine Etcheverry, Carole Colin, Romain Appay et al.

Journal of Neuro-Oncology, 2019, 142 (3), pp.511-520.

DOI : https://doi.org/10.1007/s11060-019-03122-1

Pubmed : 30756272

 

17 - 

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability Role of FLI1, ETS1, and SENCR long noncoding RNA

Solène Conrad, Florence Demurger, Kamran Moradkhani, Olivier Pichon, Cédric Le Caignec et al.

American Journal of Medical Genetics Part A, 2019, 179 (6), pp.993-1000.

DOI : https://doi.org/10.1002/ajmg.a.61113

Pubmed : 30888095

 

18 - 

Canine neuropathies powerful spontaneous models for human hereditary sensory neuropathies

S. Correard, J. Plassais, L. Lagoutte, N. Botherel, J.-L. Thibaud et al.

Human Genetics, 2019, 138 (5), pp.455-466.

DOI : https://doi.org/10.1007/s00439-019-02003-x

Pubmed : 30955094

 

19 - 

Clinical outcomes of non–small-cell lung cancer patients with BRAF mutations: results from the French Cooperative Thoracic Intergroup biomarkers France study

Sébastien Couraud, Fabrice Barlesi, Clara Fontaine-Deraluelle, Didier Debieuvre, Jean-Philippe Merlio et al.

European Journal of Cancer, 2019, 116, pp.86-97.

DOI : https://doi.org/10.1016/j.ejca.2019.04.016

Pubmed : 31181537

 

20 - 

Microtubule nucleation during central spindle assembly requires NEDD1 phosphorylation on serine 405 by Aurora A

Thibault Courtheoux, David Reboutier, Thibaut Vazeille, Jean-Yves Cremet, Christelle Benaud et al.

Journal of Cell Science, 2019, 132 (10), pp.jcs231118.

DOI : https://doi.org/10.1242/jcs.231118

Pubmed : 31028180