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BMC Medical Genomics|June 21, 2023
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasiaRomain Nicolle, Nami Altin, Karine Siquier-Pernet, et al.
Journal of Clinical Microbiology|October 11, 2013
Temporal and spatial compartmentalization of drug-resistant cytomegalovirus (CMV) in a child with CMV meningoencephalitis: implications for sampling in molecular diagnosisPierre Frange, David Boutolleau, Marianne Leruez-Ville, et al.
The Journal of Allergy and Clinical Immunology|May 10, 2006
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005Luigi Notarangelo, Jean-Laurent Casanova, Mary Ellen Conley, et al.
Blood|August 21, 2009
Reduced immunoglobulin class switch recombination in the absence of ArtemisPaola Rivera-Munoz, Pauline Soulas-Sprauel, Gwenaël Le Guyader, et al.
The Journal of Clinical Investigation|August 5, 2003
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Gaël Ménasché, Chen Hsuan Ho, Ozden Sanal, et al.
Clinical Genetics|May 27, 2023
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clusteringJérémy Dana, Guillaume Dorval, Christine Saint Martin, et al.
Blood Cells, Molecules & Diseases|April 3, 2007
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCRAlexis Proust, Benoît Guillet, Capucine Picard, et al.
The Journal of Experimental Medicine|March 2, 2005
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene productBenoit Pasquier, Luo Yin, Marie-Claude Fondanèche, et al.
American Journal of Human Genetics|May 29, 2002
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytesJérôme Feldmann, Anne-Marie Prieur, Pierre Quartier, et al.
European Journal of Immunology|March 5, 2003
Characterization of antigen-specific repertoire diversity following in vitro restimulation by a recombinant adenovirus expressing human cytomegalovirus pp65Yamina Hamel, Pierre Rohrlich, Véronique Baron, et al.
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