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Refinado por: Base de dados/Biblioteca: DOAJ Directory of Open Access Journals remover Base de dados/Biblioteca: EBSCOhost Academic Search Premier remover
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1
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense
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Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense

Barreiro, Luis B ; Ben-Ali, Meriem ; Quach, Hélène ; Laval, Guillaume ; Patin, Etienne ; Pickrell, Joseph K ; Bouchier, Christiane ; Tichit, Magali ; Neyrolles, Olivier ; Gicquel, Brigitte ; Kidd, Judith R ; Kidd, Kenneth K ; Alcaïs, Alexandre ; Ragimbeau, Josiane ; Pellegrini, Sandra ; Abel, Laurent ; Casanova, Jean-Laurent ; Quintana-Murci, Lluís McVean, Gil

PLoS genetics, 2009-07, Vol.5 (7), p.e1000562-e1000562 [Periódico revisado por pares]

United States: Public Library of Science

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2
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
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Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

Crequer, Amandine ; Picard, Capucine ; Patin, Etienne ; D'Amico, Aurelia ; Abhyankar, Avinash ; Munzer, Martine ; Debré, Marianne ; Zhang, Shen-Ying ; de Saint-Basile, Geneviève ; Fischer, Alain ; Abel, Laurent ; Orth, Gérard ; Casanova, Jean-Laurent ; Jouanguy, Emmanuelle Wurfel, Mark M.

PloS one, 2012-08, Vol.7 (8), p.e44010-e44010 [Periódico revisado por pares]

United States: Public Library of Science

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3
No increased prevalence of autoantibodies neutralizing type I IFNs in idiopathic pulmonary fibrosis patients
No increased prevalence of autoantibodies neutralizing type I IFNs in idiopathic pulmonary fibrosis patients
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No increased prevalence of autoantibodies neutralizing type I IFNs in idiopathic pulmonary fibrosis patients

Philippot, Quentin ; Bastard, Paul ; Puel, Anne ; Casanova, Jean-Laurent ; Cobat, Aurélie ; Laouénan, Cédric ; Tardivon, Coralie ; Crestani, Bruno ; Borie, Raphael

Respiratory research, 2023-03, Vol.24 (1), p.87-87, Article 87 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco
Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco
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Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco

Sabri, Ayoub ; Quistrebert, Jocelyn ; Naji Amrani, Hicham ; Abid, Ahmed ; Zegmout, Adil ; Abderrhamani Ghorfi, Ismail ; Souhi, Hicham ; Boucaid, Abdelhalim ; Benali, Anas ; Abilkassem, Rachid ; Kmari, Mohamed ; Hassani, Amal ; Lahcen, Belyamani ; Siah, Samir ; Schurr, Erwin ; Boisson-Dupuis, Stéphanie ; Casanova, Jean-Laurent ; Lahlou, Amine ; Laatiris, Abdelkader ; Louzi, Lhoussain ; Ouarssani, Aziz ; Bourazza, Ahmed ; Aouragh, Aziz ; Mustapha, Bensghir ; Messaoudi, Nezha ; Agader, Aomar ; Cobat, Aurélie ; Abel, Laurent ; El Baghdadi, Jamila Caylà, Joan A

PloS one, 2019-08, Vol.14 (8), p.e0221081-e0221081 [Periódico revisado por pares]

United States: Public Library of Science

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5
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations
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Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations

Quistrebert, Jocelyn ; Orlova, Marianna ; Kerner, Gaspard ; Ton, Le Thi ; Luong, Nguyễn Trong ; Danh, Nguyễn Thanh ; Vincent, Quentin B ; Jabot-Hanin, Fabienne ; Seeleuthner, Yoann ; Bustamante, Jacinta ; Boisson-Dupuis, Stéphanie ; Huong, Nguyen Thu ; Ba, Nguyen Ngoc ; Casanova, Jean-Laurent ; Delacourt, Christophe ; Hoal, Eileen G ; Alcaïs, Alexandre ; Thai, Vu Hong ; Thành, Lai The ; Abel, Laurent ; Schurr, Erwin ; Cobat, Aurélie Stein, Cathy

PLoS genetics, 2021-03, Vol.17 (3), p.e1009392-e1009392 [Periódico revisado por pares]

United States: Public Library of Science

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6
HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
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HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

Itan, Yuval ; Mazel, Mark ; Mazel, Benjamin ; Abhyankar, Avinash ; Nitschke, Patrick ; Quintana-Murci, Lluis ; Boisson-Dupuis, Stephanie ; Boisson, Bertrand ; Abel, Laurent ; Zhang, Shen-Ying ; Casanova, Jean-Laurent

BMC genomics, 2014-04, Vol.15 (1), p.256-256 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer
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Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer

Vincent, Quentin B ; Belkadi, Aziz ; Fayard, Cindy ; Marion, Estelle ; Adeye, Ambroise ; Ardant, Marie-Françoise ; Johnson, Christian R ; Agossadou, Didier ; Lorenzo, Lazaro ; Guergnon, Julien ; Bole-Feysot, Christine ; Manry, Jeremy ; Nitschké, Patrick ; Theodorou, Ioannis ; Casanova, Jean-Laurent ; Marsollier, Laurent ; Chauty, Annick ; Abel, Laurent ; Alcaïs, Alexandre Phillips, Richard Odame

PLoS neglected tropical diseases, 2018-04, Vol.12 (4), p.e0006429-e0006429 [Periódico revisado por pares]

United States: Public Library of Science

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8
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
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A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

Kong, Xiao-Fei ; Bousfiha, Aziz ; Rouissi, Abdelfettah ; Itan, Yuval ; Abhyankar, Avinash ; Bryant, Vanessa ; Okada, Satoshi ; Ailal, Fatima ; Bustamante, Jacinta ; Casanova, Jean-Laurent ; Hirst, Jennifer ; Boisson-Dupuis, Stéphanie Nogales-Gadea, Gisela

PloS one, 2013-03, Vol.8 (3), p.e58286-e58286 [Periódico revisado por pares]

United States: Public Library of Science

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9
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
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A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

Bolze, Alexandre ; Abhyankar, Avinash ; Grant, Audrey V ; Patel, Bhavi ; Yadav, Ruchi ; Byun, Minji ; Caillez, Daniel ; Emile, Jean-Francois ; Pastor-Anglada, Marçal ; Abel, Laurent ; Puel, Anne ; Govindarajan, Rajgopal ; de Pontual, Loic ; Casanova, Jean-Laurent El-Maarri, Osman

PloS one, 2012-01, Vol.7 (1), p.e29708 [Periódico revisado por pares]

United States: Public Library of Science

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10
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia
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A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

Mamoune, Asmaa ; Bahuau, Michel ; Hamel, Yamina ; Serre, Valérie ; Pelosi, Michele ; Habarou, Florence ; Nguyen Morel, Marie-Ange ; Boisson, Bertrand ; Vergnaud, Sabrina ; Viou, Mai Thao ; Nonnenmacher, Luc ; Piraud, Monique ; Nusbaum, Patrick ; Vamecq, Joseph ; Romero, Norma ; Ottolenghi, Chris ; Casanova, Jean-Laurent ; de Lonlay, Pascale Wilkie, Andrew O. M.

PLoS genetics, 2014-11, Vol.10 (11), p.e1004711 [Periódico revisado por pares]

United States: Public Library of Science

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