المؤلفون: Stéphane Echaubard, Céline Pebrel-Richard, Aurélie Chausset, Jean-Louis Kemeny, Etienne Merlin, Fanny Laffargue

المصدر: Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Acro-osteolysis, PTHLH gene, Rare disease, 12p11.22p11.23 duplication, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/336f7c67222f4d6699cf9717b9decfe0

المؤلفون: Isabelle Savary-Auzeloux, Marianne Jarzaguet, Carole Migné, Jean-Louis Kemeny, Lorraine Novais-Gameiro, Marcela de Azevedo, Véronique Mathé, François Mariotti, Philippe Langella, Jean-Marc Chatel, Dominique Dardevet

المصدر: Frontiers in Nutrition, Vol 9 (2022)

مصطلحات موضوعية: aging, gut, Streptococcus thermophilus, muscle, inflammation, DSS, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnut.2022.986542/full; https://doaj.org/toc/2296-861X

URL الوصول: https://doaj.org/article/27461dc0cff74b5cb2e8f480d7b2d942

المؤلفون: Carole Philipponnet, Julien Aniort, Cyril Garrouste, Jean-Louis Kemeny, Mohammed Hadj-Abdelkader, Anne-Elisabeth Heng

المصدر: Kidney International Reports, Vol 5, Iss 10, Pp 1836-1838 (2020)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024920314388; https://doaj.org/toc/2468-0249

URL الوصول: https://doaj.org/article/6479912bf9f3488dbd61140c3eba2357

المؤلفون: Marjolaine Ngollo, Andre Lebert, Marine Daures, Gaelle Judes, Khaldoun Rifai, Lucas Dubois, Jean-Louis Kemeny, Frederique Penault-Llorca, Yves-Jean Bignon, Laurent Guy, Dominique Bernard-Gallon

المصدر: BMC Cancer, Vol 17, Iss 1, Pp 1-8 (2017)

مصطلحات موضوعية: ChIP-on-chip, Epigenetics, Histone methylation, H3K27me3, Prostate, Cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12885-017-3256-y; https://doaj.org/toc/1471-2407

URL الوصول: https://doaj.org/article/7b2ac08bf8ed494593c19dd0b11ab84a

المؤلفون: Carole Philipponnet, Lucie Cassagnes, Bruno Pereira, Jean-Louis Kemeny, Mojgan Devouassoux-Shisheboran, Alexandre Lautrette, Claude Guerin, Bertrand Souweine

المصدر: PLoS ONE, Vol 13, Iss 5, p e0196795 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5969763?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e0f02bfb6b724e84892aa62d16c192be

المؤلفون: Isabelle, Savary-Auzeloux, Marianne, Jarzaguet, Carole, Migné, Jean-Louis, Kemeny, Lorraine, Novais-Gameiro, Marcela, de Azevedo, Véronique, Mathé, François, Mariotti, Philippe, Langella, Jean-Marc, Chatel, Dominique, Dardevet

المصدر: Frontiers in nutrition. 9

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8fd8b775a870673db8302a05069cb0a2
https://pubmed.ncbi.nlm.nih.gov/36245508

المؤلفون: Mélanie Müller-Barthélémy, Elisa Le Boiteux, Franck Court, Julian Biau, Lucie Karayan-Tapon, Toufic Khalil, Pierre Verrelle, Philippe Arnaud, Jean-Louis Kemeny, Anne Fogli, Catherine Vaurs-Barrière, Bruno Pereira, Emmanuel Chautard

المساهمون: Génétique, Reproduction et Développement (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie et Génétique Moléculaire [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Thérapie ciblée combinatoire en Onco-Hématologie (EA3846), Université d'Auvergne - Clermont-Ferrand I (UdA), Unité de Biostatistiques [CHU Clermont-Ferrand], Direction de la recherche clinique et de l’innovation [CHU Clermont-Ferrand] (DRCI), CHU Clermont-Ferrand-CHU Clermont-Ferrand, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Laboratoire de pathologie, Service de Neurochirurgie [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand], Institut National de la Transfusion Sanguine [Paris] (INTS), Arnaud, Philippe, Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Génétique, Reproduction et Développement - Clermont Auvergne (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie Médicale et Biologie Moléculaire [CHU Clermont-Ferrand], Centre Jean Perrin, CRLCC Jean Perrin, Unité de biostatistiques, CHU Clermont-Ferrand-Hôpital Montpied, Imagerie Moléculaire et Stratégies Théranostiques - Clermont Auvergne (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), CHU Clermont-Ferrand-Hôpital Gabriel Montpied, Service de Neurochirurgie [CHU Clermont-Ferrand], ANR-16-IDEX-0001,CAP 20-25,CAP 20-25(2016), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand], Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Genome Research
Genome Research, 2019, 29 (10), pp.1605-1621. ⟨10.1101/gr.249219.119⟩
Genome Research, Cold Spring Harbor Laboratory Press, 2019, 29 (10), pp.1605-1621. ⟨10.1101/gr.249219.119⟩

مصطلحات موضوعية: Adult, Male, Jumonji Domain-Containing Histone Demethylases, Transcription, Genetic, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease_cause, Epigenesis, Genetic, Histones, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Cell Line, Tumor, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, medicine, Humans, transcriptional defects, Epigenetics, Promoter Regions, Genetic, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Research, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.MN]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], Promoter, Glioma, DNA Methylation, Chromatin, Isocitrate Dehydrogenase, 3. Good health, Cell biology, Gene Expression Regulation, Neoplastic, [SDV.BBM.MN] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], CpG site, CpG-island, Cancer cell, DNA methylation, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], CpG Islands, Female, 030217 neurology & neurosurgery, Bivalent chromatin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a976cd21f9127bb91cbb3859bc871cd6
https://doi.org/10.1101/gr.249219.119

المؤلفون: Christian Renard, Christine Petit, Yosra Bouyacoub, Sedigheh Delmaghani, Magali Niasme-Grare, Nicolas Michalski, Hung Thai-Van, Olivier Deguine, Anne Aubois, Arnaud Deveze, Jean-Pierre Lavieille, Valérie Franco-Vidal, Anne-Laure Roudevitch-Pujol, Amrit Singh-Estivalet, Arnaud Coez, Vincent Michel, Christophe Vincent, Hugues Aschard, Claire Thibult-Apt, Amel Bahloul, Sophie Boucher, E. Ionescu, Bernard Fraysse, Fabienne Wong Jun Tai, Fabrice Giraudet, Vincent Darrouzet, Typhaine Dupont, Nicolas Wolff, Didier Bouccara, Lionel Collet, Crystel Bonnet, Gaelle M. Lefèvre, Jean-Louis Kemeny, Andrea Lelli, Eric Bizaguet, Paul Avan

المساهمون: Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), ED 515 - Complexité du vivant, Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Université d'Angers (UA), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Récepteurs Canaux - Channel Receptors, Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Toulouse [Toulouse], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Hôpital Edouard Herriot [CHU - HCL], Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Université Clermont Auvergne (UCA), Hôpital Nord [CHU - APHM], Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Hôpital Roger Salengro [Lille], Laboratoire d’Audiologie Renard, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Laboratoire de correction auditive Eric Bizaguet, CEA- Saclay (CEA), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre de Bioinformatique, Biostatistique et Biologie Intégrative (C3BI), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by a grant from Fondation pour l’Audition (to C.P.), LabEx Lifesenses Grant ANR-10-LABX-65, and Light4deaf Grant ANR-15-RHUS-0001., We thank the patients for participating in this study and Céline Trébeau for technical assistance. S.B. received funding from the University of Angers (Medical School), the University Hospital of Angers, and the Collège Français d’oto-rhino-laryngologistes., ANR-10-LABX-0065,LIFESENSES,DES SENS POUR TOUTE LA VIE(2010), ANR-15-RHUS-0001,LIGHT4DEAF,ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER(2015), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Collège de France - Chaire Génétique et physiologie cellulaire, Bonnet, Crystel, DES SENS POUR TOUTE LA VIE - - LIFESENSES2010 - ANR-10-LABX-0065 - LABX - VALID, ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER - - LIGHT4DEAF2015 - ANR-15-RHUS-0001 - RHUS - VALID

المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Proc Natl Acad Sci U S A

مصطلحات موضوعية: 0301 basic medicine, Presbycusis, [SDV.GEN] Life Sciences [q-bio]/Genetics, Deafness, Cohort Studies, Mice, 0302 clinical medicine, MESH: Presbycusis, MESH: Animals, Age of Onset, MESH: Cohort Studies, Genes, Dominant, Early onset, MESH: Heterozygote, Genetics, Multidisciplinary, monogenic disorder, Age Factors, Biological Sciences, Phenotype, MESH: Case-Control Studies, Mitochondria, 3. Good health, age-related hearing loss, symbols, MESH: Membrane Proteins, medicine.symptom, Heterozygote, MESH: Mutation, Hearing loss, MESH: Mitochondria, MESH: Age of Onset, MESH: Deafness, Biology, 03 medical and health sciences, symbols.namesake, MESH: Whole Exome Sequencing, Exome Sequencing, medicine, Animals, Humans, Allele frequency, Gene, ultrarare variants, MESH: Mice, MESH: Age Factors, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Membrane Proteins, Tmc1, medicine.disease, Comorbidity, MicroRNAs, 030104 developmental biology, Case-Control Studies, Mutation, Mendelian inheritance, MESH: Genes, Dominant, presbycusis, MESH: MicroRNAs, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26bb30ca4931ea88956d1a4bd7843bdb
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215054

المؤلفون: Mohammed Hadj-Abdelkader, Jean-Louis Kemeny, Cyril Garrouste, Carole Philipponnet, Julien Aniort, Anne-Elisabeth Heng

المساهمون: Service de Néphrologie - Hémodialyses [CHU Clermont-Ferrand], Pôle RHEUNNIRS [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service d'Anatomie Pathologique [CHU Clermont-Ferrand]

المصدر: Kidney International Reports
Kidney International Reports, Elsevier, 2020, 5, pp.1836-1838. ⟨10.1016/j.ekir.2020.07.039⟩
Kidney International Reports, Vol 5, Iss 10, Pp 1836-1838 (2020)

مصطلحات موضوعية: business.industry, [SDV]Life Sciences [q-bio], Cell, 030232 urology & nephrology, MEDLINE, Disease, 030230 surgery, lcsh:Diseases of the genitourinary system. Urology, lcsh:RC870-923, medicine.disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Text mining, Nephrology, Medicine, business, Nephrology Rounds, Kidney transplantation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0ec5172fddc173e7f326764e6182410
https://hal.archives-ouvertes.fr/hal-03493175

المؤلفون: Xavier Durando, Julian Biau, Axel de Bernardi, Jean-Louis Kemeny, Maureen Bernadach, Judith Passildas-Jahanmohan

المساهمون: Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), CHU Clermont-Ferrand, PASSILDAS, Judith

المصدر: Archives of Clinical and Medical Case Reports
Archives of Clinical and Medical Case Reports, 2020, 04 (04), ⟨10.26502/acmcr.96550235⟩

مصطلحات موضوعية: Neuroblastoma RAS viral oncogene homolog, Monosomy, Pathology, medicine.medical_specialty, [SDV.CAN]Life Sciences [q-bio]/Cancer, Genetic mutation, Metastasis, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, CDKN2A, Neuro-oncology, Case report, medicine, 030212 general & internal medicine, GNA11, business.industry, Melanoma, Histology, General Medicine, medicine.disease, 3. Good health, Meningeal melanocytoma, 030220 oncology & carcinogenesis, business, GNAQ

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8d6a6ce89b8defcfed6ff47edfdf34
https://hal.archives-ouvertes.fr/hal-03420224