Toutes les publications

Find a publication

Growth and host interaction of mouse segmented filamentous bacteria in vitro.

Schnupf P, GaboriauRouthiau V, Gros M, Friedman R, Moya-Nilges M, Nigro G, Cerf-Bensussan N, Sansonetti P.

Nature. 2015 520(7545):99-103.


Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Belkadi A. Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, Shang L, Boisson B, Casanova JL, Abel L.

Proc Natl Acad Sci USA. 2015 112(17):5473-8.


Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.

Ciancanelli MJ, et al.

Science. 2015 348:448-53.


Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

Okada S*, Markle JG*, et al.

Science. 2015 349:606-13.


Mutations in NONO are a novel cause of syndromic intellectual disability and inhibitory synaptic defects.

D Mircsof. M Langouet, M Rio, S Moutton, K Siquier- Pernet, C Bole-Feysot, N Cagnard, P Nitschke, L Gaspar, M Znidari, O Alibeu, Ak Fritz, Dp Wolfer, A Schröter, G Bosshard, M Rudin, C Koester, F Crestani, P Seebeck, N Boddaert, Jm Fritschy, A Munnich, J Amiel, Sa Brown, Sk Tyagarajan, L Colleaux.

Nature Neuroscience. 2015 18:1731-36


Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome- autophagosome dysfunction.

Akizu N. Cantagrel V, Zaki Ms, Al-Gazali L, Wang X, Rosti Ro, Dikoglu E, Gelot Ab, Rosti B, Vaux Kk, Scott Em, Silhavy Jl, Schroth J, Copeland B, Schaffer Ae, Gordts Pl, Esko Jd, Buschman Md, Field Sj, Napolitano G, Abdel-Salam Gm, Ozgul Rk, Sagiroglu Ms, Azam M, Ismail S, Aglan M, Selim L, Mahmoud Ig, Abdel- Hadi S, Badawy Ae, Sadek Aa, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova Jl, Dursun A, Gunel M, Gabriel Sb, De Lonlay P, Gleeson Jg.

Nature Genetics. 2015 47:528-34.


Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.

Michel L. Huguet-Lachon A, Gourdon G.

PLoS One. 2015 10(9):e0137620.


Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.

Algalarrondo V. Wahbi K, Sebag F, Gourdon G, Beldjord C, Azibi K, Balse E, Coulombe A, Fischmeister R, Eymard B, Duboc D, Hatem SN.

Neuromuscul Disord. 2015 25(4):308-20.


Toward the First Class of Suicide Inhibitors of Kallikreins Involved in Skin Diseases.

Tan X. Soualmia F, Furio L, Renard J, Kempen I, Qin L, Pagano M, Pirotte B, El Amri C, Hovnanian A, Reboud- Ravaux M.

J Med Chem. 2015 58(2):598-612.


Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia.

Gordon CT. Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares ALP, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Guion-Almeida ML, Padilha Moura P, Gamba Garib D, Munnich A, Ernfors P, Kurihara H, Hufnagel RB, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J.

Am J Hum Genet. 2015 96:519-31


Imagine's 400 faces

See More