المؤلفون: Philippe Chevalier, MD, PhD, Adrien Moreau, PhD, Sylvain Richard, PhD, Alexandre Janin, PharmD, PhD, Gilles Millat, PhD, Francis Bessière, MD, Antoine Delinière, MD

المصدر: HeartRhythm Case Reports, Vol 7, Iss 11, Pp 734-738 (2021)

مصطلحات موضوعية: Arrhythmogenic cardiomyopathy, Diagnostic, Repolarization, Short QTc, Sotalol, JTc, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214027121001536; https://doaj.org/toc/2214-0271

URL الوصول: https://doaj.org/article/8c5629fb8a9845118bdc04d6cfc78371

المؤلفون: Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: catecholaminergic polymorphic ventricular tachycardia, Andersen-Tawil syndrome, Kir2.1 channel, Pierre Robin sequence, functionnal characterization, KCNJ2 variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.773177/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1eea676b9315439d98a82f282c9786d4

المؤلفون: Adrien Moreau, Jean‐Baptiste Reisqs, Helene Delanoe‐Ayari, Marion Pierre, Alexandre Janin, Antoine Deliniere, Francis Bessière, Albano C. Meli, Azzouz Charrabi, Estele Lafont, Camille Valla, Delphine Bauer, Elodie Morel, Vincent Gache, Gilles Millat, Xavier Nissan, Adele Faucherre, Chris Jopling, Sylvain Richard, Alexandre Mejat, Philippe Chevalier

المصدر: Clinical and Translational Medicine, Vol 11, Iss 3, Pp n/a-n/a (2021)

مصطلحات موضوعية: action potential duration, arrhythmogenic cardiomyopathy, desmocollin, hiPSC‐CM, QT duration, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2001-1326

URL الوصول: https://doaj.org/article/c9664adcb3fe4088aa3cbb1ca8360b5b

المؤلفون: Samuel Chauveau, MD, Alexandre Janin, PharmD, Marianne Till, MD, PhD, Elodie Morel, PhD, Philippe Chevalier, MD, PhD, Gilles Millat, PhD

المصدر: HeartRhythm Case Reports, Vol 3, Iss 12, Pp 574-578 (2017)

مصطلحات موضوعية: Early repolarization syndrome, Copy number variation, KCND3, Molecular diagnosis, Next-generation sequencing, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214027117301513; https://doaj.org/toc/2214-0271

URL الوصول: https://doaj.org/article/587d50e0ed3845db9d9807a82446ec1b

المؤلفون: Alexandre Janin, Delphine Bauer, Francesca Ratti, Gilles Millat, Alexandre Méjat

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-16 (2017)

مصطلحات موضوعية: LINC complex, Nuclear envelope, Lamins a/C, LMNA, Sun, Nesprins, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0698-x; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a19f61b0896849b587f51e14fd118592

المؤلفون: Claire Goursaud, Delphine Mallet, Alexandre Janin, Rita Menassa, Véronique Tardy-Guidollet, Gianni Russo, Anne Lienhardt-Roussie, Claudine Lecointre, Ingrid Plotton, Yves Morel, Florence Roucher-Boulez

المصدر: Frontiers in Endocrinology, Vol 9 (2018)

مصطلحات موضوعية: CYP11A1, alternative splicing, adrenal insufficiency, disorders of sex development, congenital lipoid adrenal hyperplasia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2018.00491/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/e5cd13ccfccc43d78d39643050862b98

المؤلفون: Alexandre Janin, Vincent Gache

المصدر: Frontiers in Physiology, Vol 9 (2018)

مصطلحات موضوعية: LINC complex, nuclear envelope, lamins A/C, LMNA, nesprins, human diseases, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fphys.2018.01277/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/315ca848409e4ecabed070877f4a7b8c

المؤلفون: Zangbéwendé Guy Ouedraogo, Caroline Janel, Alexandre Janin, Gilles Millat, Sarah Langlais, Bénédicte Pontier, Marie Biard, Mathis Lepage, Christine Francannet, Fanny Laffargue, Isabelle Creveaux

المصدر: Genes, Vol 15, Iss 2, p 225 (2024)

مصطلحات موضوعية: osteochondrodysplasia, skeletal dysplasia, achondroplasia, hypochondroplasia, fibroblast growth factor receptor 3, exonization, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/2/225; https://doaj.org/toc/2073-4425; https://doaj.org/article/f113b77975634845af32fb9cd3de0b68

الاتاحة: https://doi.org/10.3390/genes15020225
https://doaj.org/article/f113b77975634845af32fb9cd3de0b68

المؤلفون: Xavier Vanhoye, Alexandre Janin, Amandine Caillaud, Antoine Rimbert, Fabienne Venet, Morgane Gossez, Wieneke Dijk, Oriane Marmontel, Séverine Nony, Charlotte Chatelain, Christine Durand, Pierre Lindenbaum, Jennifer Rieusset, Bertrand Cariou, Philippe Moulin, Mathilde Di Filippo

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 8; Pages: 4281

مصطلحات موضوعية: primary hypobetalipoproteinemia, apolipoprotein B, genome editing, variants of uncertain significance, functionality, secretion, cholesterol

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23084281

الاتاحة: https://doi.org/10.3390/ijms23084281

المؤلفون: Alexandre Janin, Nicolas Coltice, Julien Tierny, Nicolas Chamot-Rooke

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a99cfdcfb2a6c5f39fad7aabae158848
https://doi.org/10.5194/egusphere-egu23-12628

المؤلفون: Alexandre Janin, Nicolas Chamot‐Rooke, Matthias Delescluse, Marc Fournier, Jean‐Arthur Olive, Alain Rabaute, Philippe Huchon, Jérôme Dyment, Christophe Vigny, Mathieu Rodriguez

المصدر: Tectonics (0278-7407) (American Geophysical Union (AGU)), 2023-05, Vol. 42, N. 5, P. e2023TC007747 (35p.)

مصطلحات موضوعية: Geophysics, Kinematics, Median Ridge, Geochemistry and Petrology, Indus fan, Ridge-transform Intersections, Indian Ocean, Oceanic transform faults Active tectonics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7473501617812cb18e31626e0ef4e0
https://archimer.ifremer.fr/doc/00835/94691/

المؤلفون: Alexandre Janin, Evan Gouy, Audrey Putoux, Thomas Perouse-de-Monclos, Philippe Chevalier, Adèle Faucherre, Jourdano Mancilla Abaroa, Chris Jopling, Sophie Collardeau Frachon, Jelena Radojevic, Salima El Chehadeh, Gilles Millat

المصدر: Circulation: Genomic and Precision Medicine.

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2775ab776c29edf930b33f28c5ec1d6b
https://doi.org/10.1161/circgen.122.003881

المؤلفون: Ariane Lunati‐Rozie, Alexandre Janin, Emmanuelle Faubert, Severine Nony, Céline Renoux, Manuel D. Carcao, Pascale Fanen, Benoît Funalot, Lamisse Mansour‐Hendili, Philippe Joly

المصدر: British Journal of Haematology. 201

مصطلحات موضوعية: Hematology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::42a071c3e224b033b5126920c5e1f402
https://doi.org/10.1111/bjh.18760

المؤلفون: Antoine Delinière, Christelle Haddad, Claudia Herrera-Siklody, Alexis Hermida, Etienne Pruvot, Sabrina Bressieux-Degueldre, Gilles Millat, Alexandre Janin, Jean-Sylvain Hermida, Babken Asatryan, Philippe Chevalier

مصطلحات موضوعية: General Medicine, 610 Medizin und Gesundheit

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ab1f19c7b69b50676463fec7e21733

المؤلفون: Antoine Delinière, Alexandre Janin, Philippe Chevalier, Gilles Millat

المصدر: EMC - Pediatría. 56:1-9

مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, business.industry, Medicine, 030212 general & internal medicine, 030204 cardiovascular system & hematology, business, Humanities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::69995a1d4b2b98e0362ad599836c7986
https://doi.org/10.1016/s1245-1789(21)45217-0

المؤلفون: Alexandre Janin, Thomas Perouse de Montclos, Karine Nguyen, Emilie Consolino, Gwenael Nadeau, Gaelle Rey, Océane Bouchot, Patricia Blanchet, Quentin Sabbagh, Cécile Cazeneuve, Rajae El-Malti, Elodie Morel, Antoine Delinière, Philippe Chevalier, Gilles Millat

المصدر: Molecular diagnosistherapy. 26(5)

مصطلحات موضوعية: Pharmacology, Adolescent, Mutation, Genetics, Infant, Newborn, Molecular Medicine, High-Throughput Nucleotide Sequencing, Humans, General Medicine, Genetic Testing, Prospective Studies, Cardiomyopathies, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11c29878155af80e02541ab906e2ddb9
https://pubmed.ncbi.nlm.nih.gov/35838873

المؤلفون: Thomas Bodin, Alexandre Janin, Milena Marjanovic, Cecile Prigent, Yann Capdeville, Sebastien Chevrot, Stephanie Durand

مصطلحات موضوعية: Physics::Geophysics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::424f3f8489ce0c318410e739d8f3122b
https://doi.org/10.5194/egusphere-egu22-10088

المؤلفون: Charlotte V. Y. Knowles, Anil Kanthi, Carolyn Tysoe, Georgia Spentzou, Claire L. S. Turner, Jan A Till, Liza K. Phillips, Anne Moreau de Bellaing, Diptendu Chatterjee, Alexandre Janin, Paul French, Tamara T. Koopmann, Anju Shukla, Melanie T. Achleitner, Loïc de Pontual, Matthew S. Edwards, Deborah J. Morris-Rosendahl, Noha Elserafy, Kirti Mittal, Jessie Cameron, Wendy K. Chung, Saskia B. Wortmann, Sajel L Kana, Kit Doudney, Robert G. Weintraub, Peter M George, Priyanka Ahimaz, Kyla Dunn, Ona Faye-Petersen, Katta M. Girisha, Hannah L. Kennedy, Kate S Lichkus, Alexa Kidd, Sumith Parikh, Jason D. Merker, Megan E. Grove, Ruth McGowan, Laura Brett, Anna C.E. Hurst, Jeanne Amiel, Bindu Parayil Sankaran, Dianna G. Fisk, Clémantine Dimartino, Charlotte L. Alston, Michelle L. Thompson, Johannes A. Mayr, Tessa Homfray, Alan Ma, Robert McFarland, Muhammad A Rafiq, Anne Guimier, Robert M Hamilton, Christian Turner, Karen McLeod, Christopher T. Gordon, Robert W. Taylor, David R. Thorburn, Florence van den Broek, Carolyn Ellaway, Fanny Bajolle

المصدر: Genetics in Medicine, 23, 2415-2425
Genetics in Medicine, 23(12), 2415-2425. SPRINGERNATURE
Genetics in Medicine, 23, 12, pp. 2415-2425
Genetics in Medicine

مصطلحات موضوعية: Neurological signs, medicine.medical_specialty, Adolescent, Cardiomyopathy, Disease, Article, Sudden cardiac death, Mitochondrial Proteins, Internal medicine, Humans, Medicine, Allele, Alleles, Genetics (clinical), Genetics & Heredity, 0604 Genetics, Science & Technology, business.industry, Sudden cardiac arrest, 1103 Clinical Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, DEFICIENCY, Inorganic Pyrophosphatase, Death, Sudden, Cardiac, Child, Preschool, Heart failure, Mutation, Alcohol intake, medicine.symptom, Cardiomyopathies, business, Life Sciences & Biomedicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b33a647ce6ed7623f3dcf7ef17e6291
https://hdl.handle.net/1887/3250866

المؤلفون: Sylvain Richard, Gilles Millat, Alexandre Janin, Francis Bessière, Antoine Delinière, Adrien Moreau, Philippe Chevalier

المساهمون: Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Biologie et Pathologie Est [Hospices Civils de Lyon], Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), MORNET, Dominique

المصدر: HeartRhythm Case Reports
HeartRhythm Case Reports, Elsevier, 2021, 7 (11), pp.734-738. ⟨10.1016/j.hrcr.2021.07.010⟩
HeartRhythm Case Reports, 2021, 7 (11), pp.734-738. ⟨10.1016/j.hrcr.2021.07.010⟩
HeartRhythm Case Reports, Vol 7, Iss 11, Pp 734-738 (2021)

مصطلحات موضوعية: medicine.medical_specialty, [SDV]Life Sciences [q-bio], Arrhythmogenic cardiomyopathy, Cardiomyopathy, Repolarization, Case Report, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, JTc, Internal medicine, medicine, Diseases of the circulatory (Cardiovascular) system, Diagnostic, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Short QTc, 0303 health sciences, business.industry, Sotalol, medicine.disease, [SDV] Life Sciences [q-bio], Short QT interval, RC666-701, Cardiology, Cardiology and Cardiovascular Medicine, business, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf4a74c29e9c54012e07901dca7904b
https://hal.archives-ouvertes.fr/hal-03452891/document

المؤلفون: Maud Tusseau, Ema Lovšin, Charlotte Samaille, Rémi Pescarmona, Anne-Laure Mathieu, Maria-Cristina Maggio, Velma Selmanović, Marusa Debeljak, Angelique Dachy, Gregor Novljan, Alexandre Janin, Louis Januel, Jean-Baptiste Gibier, Emilie Chopin, Isabelle Rouvet, David Goncalves, Nicole Fabien, Gillian I Rice, Gaétan Lesca, Audrey Labalme, Paola Romagnani, Thierry Walzer, Sebastien Viel, Magali Perret, Yanick J. Crow, Tadej Avčin, Rolando Cimaz, Alexandre Belot

المساهمون: Tusseau M., Lovsin E., Samaille C., Pescarmona R., Mathieu A.-L., Maggio M. C., Selmanovic V., Debeljak M., Dachy A., Novljan G., Janin A., Januel L., Gibier J.-B., Chopin E., Rouvet I., Goncalves D., Fabien N., Rice G.I., Lesca G., Labalme A., Romagnani P., Walzer T., Viel S., Perret M., Crow Y.J., Avcin T., Cimaz R., Belot A.

المصدر: Journal of clinical immunology. 42(6)

مصطلحات موضوعية: Vasculitis, Endodeoxyribonucleases, Immunology, DNA, Inflammatory Bowel Diseases, Lupus Nephritis, Chromatin, ANCA, Apoptosis, DNASE1L3, Interferon-stimulated genes, Nucleic acids, Systemic lupus erythematosus, Type I interferon, Antibodies, Antineutrophil Cytoplasmic, Settore MED/38 - Pediatria Generale E Specialistica, Phenotype, Interferon Type I, Immunology and Allergy, Humans, Lupus Erythematosus, Systemic, Interferons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63ec073ef6334a7e8b88d9ace79d1694
https://pubmed.ncbi.nlm.nih.gov/35670985