المؤلفون: Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans

المصدر: Biomolecules. 14(3)

مصطلحات موضوعية: inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/00w3d2bqTest

المؤلفون: Vaché, Christel, Faugère, Valérie, Baux, David, Mansard, Luke, van Goethem, Charles, Dhaenens, Claire-Marie, Grunewald, Olivier, Audo, Isabelle, Zeitz, Christina, Meunier, Isabelle, Bocquet, Béatrice, Cossée, Mireille, Bergougnoux, Anne, Kalatzis, Vasiliki, Roux, Anne-Françoise

المساهمون: Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université de Montpellier (UM), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique Quinze-Vingts CHNO (CIC1423 - CIC QUINZE-VINGTS), Institut Hospitalo-Universitaire FOReSIGHT (IHU FOReSIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Sorbonne Université (SU)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Sorbonne Université (SU)-Sorbonne Université (SU), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

العلاقة: hal-04638052; https://hal.science/hal-04638052Test; https://hal.science/hal-04638052/documentTest; https://hal.science/hal-04638052/file/2024%20Vach%C3%A9%20et%20al.,%20Validation%20of%20Nanopore%20long.pdfTest

الإتاحة: https://doi.org/10.1038/s41431-024-01649-0Test
https://hal.science/hal-04638052Test
https://hal.science/hal-04638052/documentTest
https://hal.science/hal-04638052/file/2024%20Vach%C3%A9%20et%20al.,%20Validation%20of%20Nanopore%20long.pdfTest

المؤلفون: Dessein, Anne-Frédérique, Hebbar, Eleonore, Vamecq, Joseph, Lebredonchel, Elodie, Devos, Aurore, Ghoumid, Jamal, Mention, Karine, Dobbelaere, D., Joncquel, Marie, Fontaine, Monique, Defoort, Sabine, Smirnov, Vassily, Douillard, Claire, Dhaenens, Claire-Marie

المساهمون: Université de Lille, CHU Lille, Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 UGSF, UF Génopathies, Pharmaco-génétique, Glycobiologie et Dépistage Périnatal UF Génopathies, Hôpital Jeanne de Flandre Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Service d’Exploration de la Vision et Neuro-ophtalmologie CHU Lille, Lille Neurosciences & Cognition - U 1172 LilNCog

مصطلحات موضوعية: Mitochondrial trifunctional protein MTP, HADHA, Cardiomyopathy, Atypical maculopathy, Late-onset, LCHAD

وصف الملف: application/rdf+xml; charset=utf-8; application/pdf

العلاقة: Molecular Genetics and Metabolism Reports; Molec. Genet. Metab. Rep.; http://hdl.handle.net/20.500.12210/84144Test

الإتاحة: https://doi.org/20.500.12210/84144Test
https://hdl.handle.net/20.500.12210/84144Test

المؤلفون: Cornelis, Stéphanie S, IntHout, Joanna, Runhart, Esmee H, Grunewald, Olivier, Lin, Siying, Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah J, Whelan, Laura, Farrar, G Jane, Sharon, Dror, van den Born, L Ingeborgh, Arno, Gavin, Simcoe, Mark, Michaelides, Michel, Webster, Andrew R, Roosing, Susanne, Mahroo, Omar A, Dhaenens, Claire-Marie, Cremers, Frans PM, Study, Group

المصدر: JAMA Ophthalmology (2024) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10191303/1/Mild_ABCA4_variants_women_metaanalysis_accepted_version.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10191303Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10191303/1/Mild_ABCA4_variants_women_metaanalysis_accepted_version.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10191303Test/

المؤلفون: Borella, Ysé, Dhaenens, Claire-Marie, Grunewald, Olivier, Caputo, Georges

المصدر: American Journal of Ophthalmology Case Reports ; volume 34, page 102061 ; ISSN 2451-9936

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/j.ajoc.2024.102061Test
https://api.elsevier.com/content/article/PII:S2451993624000719?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2451993624000719?httpAccept=text/plainTest

المؤلفون: Fages, Victor, Bourre, Florentin, Larrue, Romain, Wenzel, Andrea, Gibier, Jean-Baptiste, Bonte, Fabrice, Dhaenens, Claire-Marie, Kidd, Kendrah, Kmoch, Stanislav, Bleyer, Anthony, Glowacki, François, Grunewald, Olivier

المصدر: Kidney International Reports ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2024.01.058Test
https://api.elsevier.com/content/article/PII:S2468024924000706?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024924000706?httpAccept=text/plainTest

المؤلفون: Huin, Vincent, Deramecourt, Vincent, Caparros-Lefebvre, Dominique, Maurage, Claude-Alain, Duyckaerts, Charles, Kovari, Eniko, Pasquier, Florence, Buée-Scherrer, Valérie, Labreuche, Julien, Behal, Hélène, Buée, Luc, Dhaenens, Claire-Marie, Sablonnière, Bernard

المصدر: Movement Disorders, Wiley, 2016, 31 (12), pp.1883-1890

مصطلحات موضوعية: Quantitative Biology - Genomics, Quantitative Biology - Neurons and Cognition

الوصول الحر: http://arxiv.org/abs/2011.10447Test

المؤلفون: Huin, Vincent, Dhaenens, Claire-Marie, Homa, Mégane, Carvalho, Kévin, Buée, Luc, Sablonnière, Bernard

المصدر: Journal of Caffeine and Adenosine Research, New Rochelle, N.Y. : Mary Ann Liebert, Inc., [2018]-, 2019, 9 (3), pp.73-88

مصطلحات موضوعية: Quantitative Biology - Quantitative Methods, Quantitative Biology - Neurons and Cognition

الوصول الحر: http://arxiv.org/abs/2002.02936Test

المؤلفون: Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire Marie, Cremers, Frans P.M.

المصدر: Corradi , Z , Khan , M , ABCA4-Study Group , Hitti-Malin , R , Mishra , K , Whelan , L , Cornelis , S S , Hoyng , C B , Kämpjärvi , K , Klaver , C C W , Liskova , P , Stöhr , H , Weber , B H F , Banfi , S , Farrar , G J , Sharon , D , Zernant , J , Allikmets , R , Dhaenens , C M & Cremers , F P M 2023 , ' Targeted sequencing and in vitro splice assays shed ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/68836560-b1e8-499d-b054-711b76f7c651Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100237Test
https://pure.eur.nl/en/publications/68836560-b1e8-499d-b054-711b76f7c651Test
https://pure.eur.nl/ws/files/102083416/Targeted_sequencing_and_in_vitro_splice_assays_shed_light_on_ABCA4-associated_retinopathies_missing_heritability.pdfTest
http://www.scopus.com/inward/record.url?scp=85171982571&partnerID=8YFLogxKTest

المؤلفون: Nassisi, Marco, Mohand-Said, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Mejecase, Cecile, Varin, Juliette, Wohlschlegel, Juliette, DHAENENS, Claire-Marie, Sahel, Jose-Alain, Zeitz, Christina, Audo, Isabelle

المساهمون: CHU Lille, Inserm, Université de Lille, Centre d'investigation clinique Quinze-Vingts CHNO CIC1423 - CIC QUINZE-VINGTS, Institut de la Vision, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: ABCA4, Stargardt disease, genotype-phenotype correlation, deep-intronic variants

وصف الملف: application/rdf+xml; charset=utf-8; application/pdf

العلاقة: International Journal of Molecular Sciences; Int J Mol Sci; http://hdl.handle.net/20.500.12210/40133Test

الإتاحة: https://doi.org/20.500.12210/40133Test
https://hdl.handle.net/20.500.12210/40133Test