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1. Full Text Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation
by Marduel, Marie and Ouguerram, Khadija and Serre, Valérie and Bonnefont‐Rousselot, Dominique and Marques‐Pinheiro, Alice and Erik Berge, Knut and Devillers, Martine and Luc, Gérald and Lecerf, Jean‐Michel and Tosolini, Laurent and Erlich, Danièle and Peloso, Gina M and Stitziel, Nathan and Nitchké, Patrick and Jaïs, Jean‐Philippe and Abifadel, Marianne and Kathiresan, Sekar and Leren, Trond Paul and Rabès, Jean‐Pierre and Boileau, Catherine and Varret, Mathilde and French Res Network ADH and French Research Network on ADH
Human mutation, ISSN 1059-7794, 01/2013, Volume 34, Issue 1, pp. 83 - 87
apolipoprotein E | APOE | ADH | LDL | hypercholesterolemia | Hypercholesterolemia | Apolipoprotein E | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Humans | Middle Aged | Family Health | Male | Apolipoproteins E - metabolism | Young Adult | Chromosomes, Human, Pair 19 - genetics | Gene Deletion | Adult | Female | Child | Protein Structure, Tertiary | Genetic Predisposition to Disease - genetics | Protein Structure, Secondary | Cholesterol, HDL - metabolism | Models, Molecular | Cholesterol - metabolism | Apolipoproteins E - chemistry | Triglycerides - metabolism | Pedigree | Apolipoproteins E - genetics | Adolescent | Cholesterol, LDL - metabolism | Mutation | Hyperlipoproteinemia Type II - genetics | Low density lipoproteins | Genomics | Genetic research | Genetic aspects | Triglycerides | Blood lipids | Apolipoproteins | Cholesterol | Index Medicus | mutation | Apolipoproteine E | low-density lipoproteins (LDL) | linkage analysis | Autosomal Dominant Hypercholesterolemia (ADH)
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2. Full Text Recurrent TET2 mutations in peripheral T-cell lymphomas correlate with T FH-like features and adverse clinical parameters
by Lemonnier, François and Couronné, Lucile and Parrens, Marie and Jaïs, Jean-Philippe and Travert, Marion and Lamant, Laurence and Tournillac, Olivier and Rousset, Therese and Fabiani, Bettina and Cairns, Rob A and Mak, Tak and Bastard, Christian and Bernard, Olivier A and De Leval, Laurence and Gaulard, Philippe
Blood, ISSN 0006-4971, 08/2012, Volume 120, Issue 7, pp. 1466 - 1469
Life Sciences & Biomedicine | Hematology | Science & Technology
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3. Full Text Human CD14dim Monocytes Patrol and Sense Nucleic Acids and Viruses via TLR7 and TLR8 Receptors
by Cros, Jérôme and Cagnard, Nicolas and Woollard, Kevin and Patey, Natacha and Zhang, Shen-Ying and Senechal, Brigitte and Puel, Anne and Biswas, Subhra K and Moshous, Despina and Picard, Capucine and Jais, Jean-Philippe and D'Cruz, David and Casanova, Jean-Laurent and Trouillet, Céline and Geissmann, Fréderic
Immunity (Cambridge, Mass.), ISSN 1074-7613, 09/2010, Volume 33, Issue 3, pp. 375 - 386
Lipopolysaccharide Receptors - physiology | Reactive Oxygen Species - metabolism | Humans | GPI-Linked Proteins | Viruses - immunology | Animals | Antigen Presentation | Nucleic Acids - physiology | Receptors, IgG - analysis | Toll-Like Receptor 7 - physiology | Toll-Like Receptor 8 - physiology | Lupus Erythematosus, Systemic - immunology | Myeloid Differentiation Factor 88 - physiology | HLA-DR Antigens - analysis | Mice | Monocytes - physiology | Cytokines - biosynthesis | Studies | Flow cytometry | Cytokines | Acids | Principal components analysis | Genomes | Gene expression | Experiments | Viral infections | Index Medicus
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4. Full Text Intensified chemotherapy with ACVBP plus rituximab versus standard CHOP plus rituximab for the treatment of diffuse large B-cell lymphoma (LNH03-2B): an open-label randomised phase 3 trial
by Récher, Christian, Prof and Coiffier, Bertrand, Prof and Haioun, Corinne, Prof and Molina, Thierry Jo, Prof and Fermé, Christophe, MD and Casasnovas, Olivier, MD and Thiéblemont, Catherine, Prof and Bosly, André, Prof and Laurent, Guy, Prof and Morschhauser, Franck, MD and Ghesquières, Hervé, MD and Jardin, Fabrice, Prof and Bologna, Serge, MD and Fruchart, Christophe, MD and Corront, Bernadette, MD and Gabarre, Jean, MD and Bonnet, Christophe, MD and Janvier, Maud, MD and Canioni, Danielle, Prof and Jais, Jean-Philippe, MD and Salles, Gilles, Prof and Tilly, Hervé, Dr, Prof and for the Groupe d'Etude des Lymphomes de l'Adulte and Grp Etud Lymphomes Adulte and Groupe d'Etude des Lymphomes de l'Adulte
The Lancet (British edition), ISSN 0140-6736, 2011, Volume 378, Issue 9806, pp. 1858 - 1867
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Hematologic and hematopoietic diseases | Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis | Biological and medical sciences | General aspects | Medical sciences | Cyclophosphamide - administration & dosage | Antineoplastic Combined Chemotherapy Protocols - administration & dosage | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Antibodies, Monoclonal, Murine-Derived - administration & dosage | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Male | Cyclophosphamide - adverse effects | Dose-Response Relationship, Drug | Young Adult | Vindesine - adverse effects | Adult | Female | Prednisolone | Doxorubicin - administration & dosage | Severity of Illness Index | Prednisone - administration & dosage | Lymphoma, Large B-Cell, Diffuse - drug therapy | Prednisone - adverse effects | Drug Administration Schedule | Risk Assessment | Rituximab | Treatment Outcome | Bleomycin - administration & dosage | Bleomycin - adverse effects | Vincristine | Lymphoma, Large B-Cell, Diffuse - mortality | Disease-Free Survival | Lymphoma, Large B-Cell, Diffuse - diagnosis | Maximum Tolerated Dose | Adolescent | Survival Analysis | Vindesine - administration & dosage | Doxorubicin - adverse effects | Chemotherapy | Physiological aspects | Lymphomas | B cells | Drug therapy | Methods | Cancer | Dehydrogenases | Toxicity | Population studies | Doxorubicin | Evidence-based medicine | Hepatitis | Randomization | Bleomycin | Motivation | Drug dosages | Neutropenia | Cell survival | Hematology | Prednisone | Survival | Patients | Lymphoma | Cyclophosphamide | Lymphocytes B | Monoclonal antibodies | CD20 antigen | Tumors | B-cell lymphoma | Clinical trials | Public speaking | Grants | Clinical medicine | Index Medicus | Abridged Index Medicus | Side effects | lymphoma | survival | International standardization | chemotherapy
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5. Full Text Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis
by Cobat, Aurelie and Gallant, Caroline J and Simkin, Leah and Black, Gillian F and Stanley, Kim and Hughes, Jane and Doherty, T. Mark and Hanekom, Willem A and Eley, Brian and Jaïs, Jean-Philippe and Boland-Auge, Anne and Van Helden, Paul and Casanova, Jean-Laurent and Abel, Laurent and Hoal, Eileen G and Schurr, Erwin and Alcaïs, Alexandre
The Journal of experimental medicine, ISSN 0022-1007, 11/2009, Volume 206, Issue 12, pp. 2583 - 2591
Immunology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Hypersensitivity, Delayed - genetics | Tuberculosis - epidemiology | Quantitative Trait Loci - immunology | Humans | South Africa - epidemiology | Chromosomes, Human, Pair 5 - immunology | Male | Chromosome Mapping | Chromosomes, Human, Pair 11 - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Hypersensitivity, Delayed - immunology | Tuberculin Test | Dopamine Plasma Membrane Transport Proteins - immunology | Endemic Diseases | Tuberculosis - immunology | Mycobacterium tuberculosis | Tuberculosis - genetics | Female | Tuberculin - pharmacology | Tuberculin - immunology | Chromosomes, Human, Pair 11 - immunology | Chromosomes, Human, Pair 5 - genetics | Quantitative Trait Loci - genetics | Siblings | Index Medicus | Brief Definitive Report
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6. Full Text Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B‐cell lymphoma
by Mareschal, Sylvain and Dubois, Sydney and Viailly, Pierre‐Julien and Bertrand, Philippe and Bohers, Elodie and Maingonnat, Catherine and Jaïs, Jean‐Philippe and Tesson, Bruno and Ruminy, Philippe and Peyrouze, Pauline and Copie‐Bergman, Christiane and Fest, Thierry and Jo Molina, Thierry and Haioun, Corinne and Salles, Gilles and Tilly, Hervé and Lecroq, Thierry and Leroy, Karen and Jardin, Fabrice
Genes chromosomes & cancer, ISSN 1045-2257, 03/2016, Volume 55, Issue 3, pp. 251 - 267
Oncology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Signal Transduction | Humans | Middle Aged | Interferon Regulatory Factors - metabolism | Male | NF-kappa B - metabolism | Lymphoma, Large B-Cell, Diffuse - metabolism | Exome | Aged, 80 and over | Adult | Female | Neoplasm Recurrence, Local - genetics | Aged | DNA, Neoplasm - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Lymphoma, Large B-Cell, Diffuse - genetics | Genetic research | Lymphomas | Genetic aspects | Tumor proteins | Analysis | Genomics | Index Medicus | Life Sciences
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7. Full Text A gene-expression profiling score for prediction of outcome in patients with follicular lymphoma: a retrospective training and validation analysis in three international cohorts
by Huet, Sarah and Tesson, Bruno and Jais, Jean-Philippe and Feldman, Andrew L and Magnano, Laura and Thomas, Emilie and Traverse-Glehen, Alexandra and Albaud, Benoit and Carrère, Marjorie and Xerri, Luc and Ansell, Stephen M and Baseggio, Lucile and Reyes, Cécile and Tarte, Karin and Boyault, Sandrine and Haioun, Corinne and Link, Brian K and Feugier, Pierre and Lopez-Guillermo, Armando and Tilly, Hervé and Brice, Pauline and Hayette, Sandrine and Jardin, Fabrice and Offner, Fritz and Sujobert, Pierre and Gentien, David and Viari, Alain and Campo, Elias and Cerhan, James R and Salles, Gilles
The lancet oncology, ISSN 1470-2045, 04/2018, Volume 19, Issue 4, pp. 549 - 561
Life Sciences & Biomedicine | Oncology | Science & Technology | Predictive Value of Tests | Risk Assessment - methods | Lymphoma, Follicular - drug therapy | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Proportional Hazards Models | Male | Gene Expression Profiling | Randomized Controlled Trials as Topic | Rituximab - administration & dosage | Clinical Trials, Phase III as Topic | RNA, Neoplasm - analysis | Lymphoma, Follicular - genetics | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Internationality | Progression-Free Survival | Female | Maintenance Chemotherapy | Retrospective Studies | Lymphomas | Genetic aspects | Patient outcomes | Analysis | Genes | Cancer | Index Medicus | Risk factors in diseases | Limfomes | Diagnosis | Gene expression | Expressió gènica | Factors de risc en les malalties | Diagnòstic | Life Sciences
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8. Full Text The Microbiological Landscape of Anaerobic Infections in Hidradenitis Suppurativa: A Prospective Metagenomic Study
by Guet-Revillet, Hélène and Jais, Jean-Philippe and Ungeheuer, Marie-Noelle and Coignard-Biehler, Hélène and Duchatelet, Sabine and Delage, Maïa and Lam, Thi and Hovnanian, Alain and Lortholary, Olivier and Nassif, Xavier and Nassif, Aude and Join-Lambert, Olivier
Clinical infectious diseases, ISSN 1058-4838, 07/2017, Volume 65, Issue 2, pp. 282 - 291
Porphyromonas | hidradenitis suppurativa | Prevotella | soft tissue and skin infections | Fusobacterium | Infectious Diseases | Immunology | Life Sciences & Biomedicine | Microbiology | Science & Technology | Metagenomics | Hidradenitis Suppurativa - physiopathology | Prospective Studies | Skin - microbiology | Bacteria, Anaerobic - physiology | Humans | Male | Bacteria, Anaerobic - genetics | Gram-Negative Bacteria - isolation & purification | Hidradenitis Suppurativa - microbiology | Bacteria, Anaerobic - isolation & purification | Microbiota | Soft Tissue Infections - microbiology | Quality of Life | Adult | Female | Gram-Negative Bacteria - genetics | High-Throughput Nucleotide Sequencing - methods | Prevotella - isolation & purification | Skin - pathology | Microbiological research | Skin diseases | Care and treatment | Research | Anaerobic infections | Quality of life | Anaerobic microorganisms | rRNA 16S | Commensals | Genomics | Infections | Gene libraries | Antiinfectives and antibacterials | Gene sequencing | Body mass index | Taxa | Microorganisms | Anaerobes | Next-generation sequencing | Remission | Bacteria | Lesions | Construction | Antimicrobial agents | Abundance | Inflammation | Ribonucleic acid--RNA | Paving | Body mass | Actinomycetes | Index Medicus
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9. Full Text Mutation of RRM2B , encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
by de Lonlay, Pascale and Chrétien, Dominique and Serre, Valérie and Aubert, Sophie and Jais, Jean-Philippe and Arakawa, Hirofumi and Nakamura, Yusuke and Sarzi, Emmanuelle and Munnich, Arnold and Rötig, Agnès and Minai, Limor and Bourdon, Alice and Paquis-Flucklinger, Véronique
Nature genetics, ISSN 1061-4036, 06/2007, Volume 39, Issue 6, pp. 776 - 780
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondrial Diseases - pathology | Ribonucleotide Reductases - physiology | Mitochondria, Muscle | Humans | Molecular Sequence Data | Male | Lod Score | Tumor Suppressor Protein p53 - genetics | Mitochondrial Diseases - etiology | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Gene Deletion | Cell Cycle Proteins - genetics | Fibroblasts | Female | Infant, Newborn | Cells, Cultured | Tumor Suppressor Protein p53 - metabolism | Mutation - genetics | Mice, Knockout | Homozygote | Animals | Pedigree | Mice | Ribonucleotide Reductases - genetics | Cell Cycle Proteins - physiology | Mitochondrial DNA | Research | Gene mutations | Properties | Ribonucleoside reductase | Genetics | Oxidation | Mutation | Rodents | Index Medicus
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10. Full Text IDH2 mutations are frequent in angioimmunoblastic T-cell lymphoma
by Cairns, Rob A and Iqbal, Javeed and Lemonnier, François and Kucuk, Can and De Leval, Laurence and Jais, Jean-Philippe and Parrens, Marie and Martin, Antoine and Xerri, Luc and Brousset, Pierre and Chan, Li Chong and Chan, Wing-Chung and Gaulard, Philippe and Mak, Tak W
Blood, ISSN 0006-4971, 02/2012, Volume 119, Issue 8, pp. 1901 - 1903
Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis | Biological and medical sciences | Medical sciences | Prognosis | Immunoblastic Lymphadenopathy - genetics | Gene Frequency | Humans | Kaplan-Meier Estimate | Lymphoma, T-Cell, Peripheral - genetics | Genotype | Isocitrate Dehydrogenase - genetics | Male | Mutation Rate | Immunoblastic Lymphadenopathy - enzymology | Lymphoma, T-Cell - genetics | Lymphoma, T-Cell, Peripheral - enzymology | Lymphoma, T-Cell - enzymology | Lymphoma, T-Cell, Peripheral - pathology | Lymphoma, T-Cell - pathology | Female | Immunoblastic Lymphadenopathy - pathology | Aged | Mutation | Index Medicus | Abridged Index Medicus | Lymphoid Neoplasia | Brief Report
Journal Article