المؤلفون: Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou

المصدر: Journal of Clinical Medicine, Vol 10, Iss 8, p 1552 (2021)

مصطلحات موضوعية: autoinflammatory diseases, mevalonate kinase deficiency, mevalonic aciduria, hyper-IgD syndrome, porokeratosis, phenotype–genotype correlation, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/10/8/1552Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/c477d93f31314c9bbb4b23ab2ca20e25Test

المؤلفون: Nathalie Pallares-Ruiz, Laurent Philibert, Bruno Dumont, Aurélie Fabre, Laurence Cuisset, Elodie Cointin, Cécile Rittore, Stéphan Soler, Isabelle Touitou

المصدر: PLoS ONE, Vol 5, Iss 11, p e14096 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2990815?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/0b4d5ae517f940c8b9ceb2ce7154d2e7Test

المؤلفون: Camille Verebi, Roseline Caumes, Sandra Chantot-Bastaraud, Nathalie Deburgrave, Lucie Orhant, Nicolas Vaucouleur, Laurence Cuisset, Thierry Bienvenu, France Leturcq, Juliette Nectoux

المصدر: Neuromuscular Disorders. 33:367-370

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b081ce29fce2cba3f3ba3c5208e4a057Test
https://doi.org/10.1016/j.nmd.2023.03.004Test

المؤلفون: Glory Dingulu, Adriana Delwail, Laurence Cuisset, Jean-Claude Lecron, Elisabeth Gervais

المصدر: Revue du Rhumatisme. 90:38-45

مصطلحات موضوعية: Rheumatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4f4826e9df2575f82d494ff6621373d3Test
https://doi.org/10.1016/j.rhum.2022.11.006Test

المؤلفون: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner F. Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C.E. Hurst, Pascal Joset, Melissa A. Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J.L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine B. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, Richard M. Myers, Gregory M. Cooper

المساهمون: Human Genetics, Amsterdam Cardiovascular Sciences, Human genetics, CCA - Cancer biology and immunology, HudsonAlpha Institute for Biotechnology [Huntsville, AL], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Clinical Genetics

المصدر: American journal of human genetics, 110(2), 215-227. Cell Press
Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner, M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, ' Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype ', American journal of human genetics, vol. 110, no. 2, pp. 215-227 . https://doi.org/10.1016/j.ajhg.2022.12.007Test
American Journal of Human Genetics
American Journal of Human Genetics, 2023, 110 (2), pp.215-227. ⟨10.1016/j.ajhg.2022.12.007⟩
American Journal of Human Genetics, 110(2), 215-227. Cell Press

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, ZMYM3, transcriptional coregulators, MESH: Phenotype, MESH: Gene Expression Regulation, MESH: Nervous System Malformations, neurodevelopmental disorder, MESH: Male, MESH: Intellectual Disability, X-linked intellectual disability, chromatin modifiers, MESH: Histone Demethylases, Genetics, MESH: Female, MESH: Face, MESH: Nuclear Proteins, Genetics (clinical), MESH: Neurodevelopmental Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9940ea52913c5bbdc54a98d0f9168154Test
https://pure.amc.nl/en/publications/deleterious-proteinaltering-variants-in-the-transcriptional-coregulator-zmym3-in-27-individuals-with-a-neurodevelopmental-delay-phenotypeTest(b3792507-cf7f-4240-a6b2-5cc40fd0a55c).html

المؤلفون: Albert Faye, Vanessa Remy-Piccolo, Alexandre Belot, Isabelle Melki, Fabienne Charbit-Henrion, Sophie Georgin-Lavialle, Dominique Berrebi, Pierre Quartier, Nadine Cerf Bensussan, Florence Uettwiller, Frank M. Ruemmele, Laurence Cuisset, Andreia Luís Martins, Brigitte Bader-Meunier, Ulrich Meinzer, Jérôme Viala

المصدر: Inflammatory Bowel Diseases. 27:1853-1857

مصطلحات موضوعية: medicine.medical_specialty, Mevalonate kinase deficiency, business.industry, Gastroenterology, medicine.disease, Peritoneal adhesions, Inflammatory bowel disease, Very early onset, digestive system diseases, Mevalonic aciduria, Internal medicine, Immunology and Allergy, Medicine, In patient, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2cd9ef5985896f98e99fee3e343a7dbdTest
https://doi.org/10.1093/ibd/izab139Test

المؤلفون: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C. E. Hurst, Pascal Joset, Stanislav Kmoch, Benjamin R. Leadem, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J. L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine Nowak, Amanda G. Noyes, Matthew Osmond, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Richard M. Myers, Gregory M. Cooper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68bc5998075e24b5d233adf3505f0a1eTest
https://doi.org/10.1101/2022.09.29.22279724Test

المؤلفون: Laurence Cuisset, Stéphane Bézieau, Flora Breheret, Christel Thauvin-Robinet, Paul Kuentz, Benjamin Cogné, Gaëlle Landeau-Trottier, Boris Keren, Eva Trochu, Leila Ghesh, Mathilde Nizon, Christine Coubes, Thomas Besnard, Cyril Mignot, Ange-Line Bruel

المصدر: Human Mutation. 42:498-505

مصطلحات موضوعية: Male, X-linked intellectual disability, media_common.quotation_subject, Nonsense, Mutation, Missense, Biology, 03 medical and health sciences, Genes, X-Linked, X Chromosome Inactivation, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Genetics (clinical), Loss function, 030304 developmental biology, media_common, 0303 health sciences, 030305 genetics & heredity, medicine.disease, Codon, Nonsense, RNA splicing, Female, Rho Guanine Nucleotide Exchange Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed24b2f126bb7fc119da468a8e826baTest
https://doi.org/10.1002/humu.24188Test

المؤلفون: François Rodrigues, Laurence Cuisset, Bérangère Cador-Rousseau, Irina Giurgea, Benedicte Neven, David Buob, Pierre Quartier, Eric Hachulla, Thierry Lequerré, Gérard Cam, Guilaine Boursier, Valérie Hervieu, Gilles Grateau, Sophie Georgin-Lavialle

المساهمون: Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pontchaillou [Rennes], UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de Référence des Maladies Auto-Immunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO), Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CH de Saint-Malo [Broussais], CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CHU Tenon] (CeréMAIA), Hôpital Edouard Herriot [Lyon], Hospices Civils de Lyon (HCL)-Groupement Hospitalier Centre [Lyon], Sorbonne Université (SU), Couvet, Sandrine, Maladies génétiques d'expression pédiatrique (U933), Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU), Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)

المصدر: Rheumatology
Rheumatology, 2022, 61 (12), pp.4827-4834. ⟨10.1093/rheumatology/keac145⟩

مصطلحات موضوعية: Adult, [SDV.IMM] Life Sciences [q-bio]/Immunology, [SDV]Life Sciences [q-bio], Amyloidosis, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Cryopyrin-Associated Periodic Syndromes, Cryopyrin associated periodic syndrome (CAPS), [SDV] Life Sciences [q-bio], IL1 inhibitors, Rheumatology, NLRP3, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, NLR Family, Pyrin Domain-Containing 3 Protein, Mutation, AA amyloidosis, Humans, [SDV.IMM]Life Sciences [q-bio]/Immunology, Pharmacology (medical), Retrospective Studies, Interleukin-1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f35de0cce26052accb8c794478d503Test
https://www.hal.inserm.fr/inserm-03875057Test

المؤلفون: Glory Dingulu, Adriana Delwail, Laurence Cuisset, Jean-Claude Lecron, Elisabeth Gervais

المصدر: Joint Bone Spine. 89:105411

مصطلحات موضوعية: Rheumatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5b1d9bfb99e94cedb22f2615c9797eafTest
https://doi.org/10.1016/j.jbspin.2022.105411Test