المؤلفون: Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Necati Findlinki, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adèle Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Hervé Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Hélène Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Sławomir Wołczyński, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi

المصدر: EBioMedicine, Vol 84, Iss , Pp 104246- (2022)

مصطلحات موضوعية: Primary ovarian insufficiency, Personalized medicine, NF-KB, Post - translational regulation, Meiosis/DNA repair genes, Mitophagy, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396422004285; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/617ed46466844b7380f9a8115b51a419

المؤلفون: Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson

المساهمون: Neurology, Clinical Genetics, Internal Medicine, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of medical genetics
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩

مصطلحات موضوعية: NMDAR, [SDV.GEN]Life Sciences [q-bio]/Genetics, nervous system, GRIN1, [SDV]Life Sciences [q-bio], Genetics, polymicrogyria, Human medicine, malformations of cortical development, GRIN2B, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genetics (clinical)

وصف الملف: application/pdf; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6df8d21797352c70b1f96c5314f0ab4
http://www.scopus.com/inward/record.url?scp=85128529767&partnerID=8YFLogxK

المؤلفون: Leïla, Ghesh, Julie, Désir, Damien, Haye, Pauline Le, Tanno, Françoise, Devillard, Benjamin, Cogné, Martina, Marangoni, Laura, Tecco, Delphine, Heron, Claudine, Le Vaillant, Madeleine, Joubert, Claire, Beneteau

المصدر: Clinical Genetics. 103:560-565

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e417dd603f4817e1abc77932e574465
https://doi.org/10.1111/cge.14274

المؤلفون: Leïla, Ghesh, Thomas, Besnard, Madeleine, Joubert, Véronique, Picard, Claudine, Le Vaillant, Claire, Beneteau

المصدر: Clinical Genetics. 102:543-547

مصطلحات موضوعية: Pregnancy, Hydrops Fetalis, Genetics, Humans, Edema, Female, Channelopathies, Anemia, Hemolytic, Congenital, Ion Channels, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c966394b692ff6c4884d905c5e5570bd
https://doi.org/10.1111/cge.14217

المؤلفون: Amy Hardcastle, Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E. Gerard, Jill A. Rosenfeld, Saumya D. Sisoudiya, Andres Hernandez‐Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria L. Dentici, Rossella Capolino, Maria C. Digilio, Ludovico Graziani, Cecilie F. Rustad, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J. McMullan, John Dean, Maria G. Giuffrida, Laura Bernardini, Vinod Varghese, Nora L. Shannon, Rachel E. Harrison, Wayne W. K. Lam, Shane McKee, Peter D. Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C. Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A. Shaw, Wendy K. Chung, Daryl A. Scott

المصدر: American Journal of Medical Genetics Part A. 188:2958-2968

مصطلحات موضوعية: DNA Copy Number Variations, Diaphragm, USP9X, CREBBP, DECIPHER database, SMARCA4, UBA2, congenital diaphragmatic hernia, Mice, Genetics, Animals, Hernias, Diaphragmatic, Congenital, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff6c6c10bf462c0911cb2f912bb59f1
https://doi.org/10.1002/ajmg.a.62919

المؤلفون: Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope, Penny Snell, Paul J. Lockhart, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Giuseppa Maria Luana Mandara, Maria Grazia Bruccheri, Olivier Pichon, Cedric Le Caignec, Radka Stoeva, Silvestre Cuinat, Sandra Mercier, Claire Beneteau, Sophie Blesson, Ashley Nordsletten, Dominique Martin-Coignard, Erik Sistermans, R. Frank Kooy, David J. Amor, Corrado Romano, Bertrand Isidor, Jane Juusola, Santhosh Girirajan

المصدر: medRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16abc621e8896a2a8b4693832e9d8dc5
https://europepmc.org/articles/PMC10246151/

المؤلفون: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer

المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie, Growth and Development, Pediatrics, Centre for Medical Genetics, Brussels Heritage Lab, Medical Genetics

المصدر: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE

مصطلحات موضوعية: Male, DISRUPTION, Chloride Channels/genetics, EXCHANGER, Mutation, Missense, LYSOSOMAL STORAGE DISEASE, VARIANTS, Neurodevelopmental Disorders/genetics, PHENOTYPE, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, Genes, X-Linked, CLC CHLORIDE, Medicine and Health Sciences, Humans, Molecular Biology, MUTATION, Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHANNELS, LINKED MENTAL-RETARDATION, ASSOCIATION, GENE, Psychiatry and Mental health, Chemistry, Female, Human medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784

المؤلفون: Penelope Jordan, Guillaume Dorval, Christelle Arrondel, Vincent Morinière, Carole Tournant, Marie‐Pierre Audrezet, Laurence Michel‐Calemard, Audrey Putoux, Gaethan Lesca, Audrey Labalme, Sandra Whalen, Laurence Loeuillet, Jelena Martinovic, Tania Attie‐Bitach, Bettina Bessières, Elise Schaefer, Sophie Scheidecker, Laetitia Lambert, Claire Beneteau, Olivier Patat, Odile Boute‐Benejean, Arnaud Molin, Fabien Guimiot, Nicolas Fontanarosa, Mathilde Nizon, Mathilde Lefebvre, Cécile Jeanpierre, Sophie Saunier, Laurence Heidet

المصدر: Human Mutation. 43:347-361

مصطلحات موضوعية: Male, Homozygote, High-Throughput Nucleotide Sequencing, Cell Cycle Proteins, Kidney, Polycystic Kidney, Autosomal Dominant, Cytoskeletal Proteins, Fetus, Antigens, Neoplasm, Mutation, Genetics, Humans, Female, Kidney Diseases, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42230c7fb17240866106371d026ef7f9
https://doi.org/10.1002/humu.24324

المؤلفون: Minh-Tuan Huynh, Stéphane Bézieau, Madeleine Joubert, Leila Ghesh, Gerard Marion, Claire Beneteau, Khalid Alfallaj, Olivier Pichon, Kara Ranguin

المصدر: neurogenetics. 22:195-206

مصطلحات موضوعية: 0301 basic medicine, Ectodermal dysplasia, Candidate gene, Microcephaly, Genotype, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, Endocrinology, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Molecular Biology, Genetics (clinical), Problem Behavior, Comparative Genomic Hybridization, medicine.diagnostic_test, Genomics, Microdeletion syndrome, medicine.disease, Penetrance, Human genetics, Phenotype, 030104 developmental biology, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, 030217 neurology & neurosurgery, Fluorescence in situ hybridization, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6890592cd16c328606abafb9c107b343
https://doi.org/10.1007/s10048-021-00653-6

المؤلفون: Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Houda Karmous‐Benailly, Charles Coutton, Véronique Satre, Françoise Devillard, Klaus Dieterich, Gaëlle Vieville, Paul Kuentz, Cédric le Caignec, Claire Beneteau, Bertrand Isidor, Mathilde Nizon, Patrick Callier, Valentine Marquet, Eric Bieth, Jonathan Lévy, Anne‐Claude Tabet, Stanislas Lyonnet, Geneviève Baujat, Marlène Rio, François Cartault, Sophie Scheidecker, Aurélie Gouronc, Audrey Schalk, Clémence Jacquin, Marta Spodenkiewicz, Chloé Angélini, Perrine Pennamen, Caroline Rooryck, Martine Doco‐Fenzy, Céline Poirsier

المصدر: American journal of medical genetics. Part AREFERENCES. 191(1)

مصطلحات موضوعية: Comparative Genomic Hybridization, Genetics, Microcephaly, Humans, Abnormalities, Multiple, Syndrome, Genetics (clinical), Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::297518341b408746cfe5d30620728ccd
https://pubmed.ncbi.nlm.nih.gov/36196855