المؤلفون: Robert, Françoise, Chassagne, Aline, Pélissier, Aurore, Peyron, Christine, Béjean, Sophie, Cretin, Élodie, Gautier, Élodie, Salvi, Dominique, Kidri, Sarah, Godard, Aurélie, Thauvin-Robinet, Christel, Masurel, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Thevenon, Julien, Lesca, Gaëtan, Putoux, Audrey, Cordier, Marie-Pierre, Dupuis-Girod, Sophie, Till, Marianne, Duffourd, Yannis, Rivière, Jean-Baptiste, Joly, Lorraine, Juif, Christine, Putois, Olivier, Ancet, Pierre, Lapointe, Anne-Sophie, Morin, Paulette, Edery, Patrick, Rossi, Massimiliano, Sanlaville, Damien, Faivre, Laurence

المصدر: Maladies rares. 2023, p. 103-120.

الاتاحة: https://www.cairn.info/maladies-rares--9782749277707-page-103.htm

المؤلفون: Collins Hutchinson, Meagan L., St‐Onge, Judith, Schlienger, Sabrina, Boudrahem‐Addour, Nassima, Mougharbel, Lina, Michaud, Jean‐Francois, Lloyd, Clara, Bruneau, Elena, Roux, Cedric, Sahly, Ahmed N., Osterman, Bradley, Myers, Kenneth A., Rouleau, Guy A., Jimenez Cruz, Daniel Alexander, Rivière, Jean‐Baptiste, Accogli, Andrea, Charron, Frederic, Srour, Myriam

المساهمون: Canada Foundation for Innovation, Canadian Institutes of Health Research

المصدر: Movement Disorders ; volume 39, issue 2, page 400-410 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.29669

المؤلفون: Rosenblatt, David, Zacharias, Caitlin, Arbabian, Kyana, Watkins, David, Riviere, Jean-Baptiste, Gilfix, Brian, Ragupathi, Krithika

المصدر: Genetics in Medicine Open ; volume 2, page 100888 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.100888
https://api.elsevier.com/content/article/PII:S2949774424000347?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424000347?httpAccept=text/plain

المؤلفون: D'Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja

المساهمون: D'Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja

Relation: info:eu-repo/semantics/altIdentifier/pmid/37183190; info:eu-repo/semantics/altIdentifier/wos/WOS:000986495100001; journal:HUMAN GENETICS; https://hdl.handle.net/11564/809152; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159163924; https://link.springer.com/article/10.1007/s00439-023-02552-2

الاتاحة: https://hdl.handle.net/11564/809152
https://doi.org/10.1007/s00439-023-02552-2
https://link.springer.com/article/10.1007/s00439-023-02552-2

المؤلفون: Schanze, Ina, Bunt, Jens, Lim, Jonathan WC, Schanze, Denny, Dean, Ryan J, Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J, Cho, Megan T, Dobyns, William B, Donnai, Dian, Douglas, Jessica, Earl, Dawn L, Edwards, Timothy J, Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F, Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M, Morgan, Sian M, Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T, Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B, Schneider, Anouck, Sherr, Elliott H, Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M, Zenker, Martin, Richards, Linda J

المصدر: American Journal of Human Genetics. 103(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Mental Health, Pediatric, Intellectual and Developmental Disabilities (IDD), Neurosciences, Rare Diseases, Behavioral and Social Science, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Adolescent, Adult, Animals, Cerebral Cortex, Child, Child, Preschool, Codon, Nonsense, Cohort Studies, Corpus Callosum, Female, Haploinsufficiency, Humans, Intellectual Disability, Male, Megalencephaly, Mice, Mice, Knockout, NFI Transcription Factors, Polymorphism, Single Nucleotide, Young Adult, NFIB, agenesis of the corpus callosum, chromosome 9p22.3, chromosome 9p23, developmental delay, haploinsufficiency, intellectual disability, macrocephaly, megalencephaly, nuclear factor I, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7099p72x

المؤلفون: Chevarin, Martin, Alcantara, Diana, Albuisson, Julliette, Collonge-Rame, Marie-Agnes, Populaire, Celine, Selmani, Zohair, Baurand, Amandine, Sawka, Caroline, Bertolone, Geoffrey, Callier, Patrick, Duffourd, Yannis, Jonveaux, Phillipe, Bignon, Yves-Jean, Coupier, Isabelle, Cornelis, Francios, Cordier, Christophe, Mozelle-Nivoix, Monique, Rivière, Jean-Baptiste, Kuentz, Paul, Thauvin, Christal, Boidot, Romain, Ghiringhelli, Francios, O'Driscoll, Mark, Faivre, Lawrence, Nambot, Sophie

وصف الملف: application/pdf

Relation: http://sro.sussex.ac.uk/id/eprint/112399/1/oncotarget-14-28358.pdf; Chevarin, Martin, Alcantara, Diana, Albuisson, Julliette, Collonge-Rame, Marie-Agnes, Populaire, Celine, Selmani, Zohair, Baurand, Amandine, Sawka, Caroline, Bertolone, Geoffrey, Callier, Patrick, Duffourd, Yannis, Jonveaux, Phillipe, Bignon, Yves-Jean, Coupier, Isabelle, Cornelis, Francios, Cordier, Christophe, Mozelle-Nivoix, Monique, Rivière, Jean-Baptiste, Kuentz, Paul, Thauvin, Christal, Boidot, Romain, Ghiringhelli, Francios, O'Driscoll, Mark, Faivre, Lawrence and Nambot, Sophie (2023) The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles. Oncotarget, 14. pp. 111-125. ISSN 1949-2553

الاتاحة: http://sro.sussex.ac.uk/id/eprint/112399/
http://sro.sussex.ac.uk/id/eprint/112399/1/oncotarget-14-28358.pdf
https://doi.org/10.18632/oncotarget.28358

المؤلفون: SAGASPE, Patricia, AMIEVA, Hélène, DARTIGUES, Jean-Francois, OLIVE, Jérôme, DE LA RIVIÈRE, Jean-Baptiste, CHARTIER, Christophe, TAILLARD, Jacques, PHILIP, Pierre

مصطلحات موضوعية: Virtual reality, Supermarket, Episodic memory, Cognition, Aging, Mild cognitive impairment, Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC]

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/186870

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/186870
https://hdl.handle.net/20.500.12278/186870
https://doi.org/10.1177/20552076231218808

المؤلفون: Stockley, Tracy L., Lo, Bryan, Box, Adrian, Corredor, Andrea Gomez, DeCoteau, John, Desmeules, Patrice, Feilotter, Harriet, Grafodatskaya, Daria, Greer, Wenda, Hawkins, Cynthia, Huang, Weei Yuarn, Izevbaye, Iyare, Lépine, Guylaine, Martins Filho, Sebastiao N., Papadakis, Andreas I., Park, Paul C., Riviere, Jean-Baptiste, Sheffield, Brandon S., Spatz, Alan, Spriggs, Elizabeth, Tran-Thanh, Danh, Yip, Stephen, Zhang, Tong, Torlakovic, Emina, Tsao, Ming Sound

المساهمون: Bayer Canada

المصدر: The Journal of Molecular Diagnostics ; volume 25, issue 3, page 168-174 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2022.12.004
https://api.elsevier.com/content/article/PII:S1525157822003658?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157822003658?httpAccept=text/plain

المؤلفون: Accogli, Andrea, Collins Hutchinson, Meagan L., Krochmalnek, Eric, St-Onge, Judith, Boudrahem-Addour, Nassima, Rivière, Jean-Baptiste, Joober, Ridha, Srour, Myriam, Trakadis, Yannis

المصدر: Psychiatry Research Case Reports ; volume 2, issue 2, page 100189 ; ISSN 2773-0212

الاتاحة: http://dx.doi.org/10.1016/j.psycr.2023.100189
https://api.elsevier.com/content/article/PII:S2773021223000871?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2773021223000871?httpAccept=text/plain

المؤلفون: Grenier, Karl, Rivière, Jean-Baptiste, Bencheikh, Bouchra Ouled Amar, Corredor, Andrea Liliam Gomez, Shieh, Benjamin Christopher, Wang, Hangjun, Fiset, Pierre Olivier, Camilleri-Broët, Sophie

المصدر: JTO Clinical and Research Reports ; volume 4, issue 7, page 100530 ; ISSN 2666-3643

الاتاحة: http://dx.doi.org/10.1016/j.jtocrr.2023.100530
https://api.elsevier.com/content/article/PII:S2666364323000693?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666364323000693?httpAccept=text/plain

المؤلفون: Bruel, Ange-Line, Franco, Brunella, Duffourd, Yannis, Thevenon, Julien, Jego, Laurence, Lopez, Estelle, Deleuze, Jean-François, Doummar, Diane, Giles, Rachel H, Johnson, Colin A, Huynen, Martijn A, Chevrier, Véronique, Burglen, Lydie, Morleo, Manuela, Desguerres, Isabelle, Pierquin, Geneviève, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Reversade, Bruno, Steichen-Gersdorf, Elisabeth, Baumann, Clarisse, Panigrahi, Inusha, Fargeot-Espaliat, Anne, Dieux, Anne, David, Albert, Goldenberg, Alice, Bongers, Ernie, Gaillard, Dominique, Argente, Jesús, Aral, Bernard, Gigot, Nadège, St-Onge, Judith, Birnbaum, Daniel, Phadke, Shubha R, Cormier-Daire, Valérie, Eguether, Thibaut, Pazour, Gregory J, Herranz-Pérez, Vicente, Goldstein, Jaclyn S, Pasquier, Laurent, Loget, Philippe, Saunier, Sophie, Mégarbané, André, Rosnet, Olivier, Leroux, Michel R, Wallingford, John B, Blacque, Oliver E, Nachury, Maxence V, Attie-Bitach, Tania, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel

المصدر: Journal of Medical Genetics. 54(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Kidney Disease, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Ciliary Motility Disorders, Encephalocele, Face, Female, Heterozygote, Humans, Male, Mutation, Orofaciodigital Syndromes, Polycystic Kidney Diseases, Proteins, Retinitis Pigmentosa, ciliopathies, oral-facial-digital syndromes, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

URL الوصول: https://escholarship.org/uc/item/6vw2q34w

المؤلفون: Rivière, Jean-Baptiste

Thesis Advisors: Rouleau, Guy, Samuels, Mark E.

مصطلحات موضوعية: Maladie de Parkinson, Génétique, Canadiens-français, Séquençage de gènes, Candidats, Formes sporadiques, Mutations rares, LRRK2, PICK1, MFN1, Parkinson's disease, Genetics, French-Canadian, Candidate gene sequencing, Sporadic forms, Rare mutations, Biology - Genetics / Biologie - Génétique (UMI : 0369)

الاتاحة: http://hdl.handle.net/1866/4706

المؤلفون: Wobrock, Dennis, Frey, Jérémy, Graeff, Delphine, De La Rivière, Jean-Baptiste, Castet, Julien, Lotte, Fabien

مصطلحات موضوعية: Computer Science - Human-Computer Interaction, Computer Science - Graphics

URL الوصول: http://arxiv.org/abs/1505.07940

المؤلفون: Abdrabo, Lina Sobhi, Watkins, David, Wang, Sophie Ran, Lafond-Lapalme, Joël, Riviere, Jean-Baptiste, Rosenblatt, David S.

المصدر: Genetics in Medicine ; volume 24, issue 1, page 254 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2021.11.014
https://api.elsevier.com/content/article/PII:S1098360021053946?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021053946?httpAccept=text/plain

المؤلفون: Cai, Zhuo Ran, McCuaig, Catherine, Hatami, Afshin, Rivière, Jean‐Baptiste, Marcoux, Danielle

المساهمون: Canadian Dermatology Foundation

المصدر: Pediatric Dermatology ; volume 39, issue 2, page 281-287 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/pde.14923
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14923
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/pde.14923

المؤلفون: Li, Meihang, Rivière, Jean-Baptiste, Polychronakos, Constantin

المصدر: Trends in Genetics ; volume 38, issue 4, page 321-324 ; ISSN 0168-9525

الاتاحة: http://dx.doi.org/10.1016/j.tig.2021.10.001
https://api.elsevier.com/content/article/PII:S0168952521002857?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0168952521002857?httpAccept=text/plain

المؤلفون: Thauvin-Robinet, Christel, Lee, Jaclyn S, Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral, Bernard, Lopes, Carla AM, St-Onge, Judith, Bruel, Ange-Line, Thevenon, Julien, González-Granero, Susana, Alby, Caroline, Munnich, Arnold, Vekemans, Michel, Huet, Frédéric, Fry, Andrew M, Saunier, Sophie, Rivière, Jean-Baptiste, Attié-Bitach, Tania, Garcia-Verdugo, Jose Manuel, Faivre, Laurence, Mégarbané, André, Nachury, Maxence V

المصدر: Nature Genetics. 46(8)

مصطلحات موضوعية: Agricultural, Veterinary and Food Sciences, Biological Sciences, Bioinformatics and Computational Biology, Genetics, Agricultural Biotechnology, Rare Diseases, Dental/Oral and Craniofacial Disease, Pediatric, Congenital Structural Anomalies, Cell Line, Centrioles, Child, Preschool, Genetic Predisposition to Disease, HEK293 Cells, Humans, Male, Microcephaly, Microtubule-Associated Proteins, Orofaciodigital Syndromes, Proteins, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

URL الوصول: https://escholarship.org/uc/item/6jk6n812

المؤلفون: Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D, Hevner, Robert F, Bonthron, David T, Braun, Kees PJ, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia MS, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kym M, Pilz, Daniela T, Ross, M Elizabeth, Dobyns, William B, Sheridan, Eamonn G

المصدر: Nature Genetics. 46(5)

مصطلحات موضوعية: Pediatric, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Animals, Base Sequence, Blotting, Western, Bromodeoxyuridine, Cyclin D2, Electroporation, Exome, Female, HEK293 Cells, Humans, Hydrocephalus, Immunohistochemistry, Malformations of Cortical Development, Megalencephaly, Mice, Microscopy, Fluorescence, Molecular Sequence Data, Mutagenesis, Site-Directed, Polydactyly, Sequence Analysis, DNA, Syndrome, FORGE Canada Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6p05f4xp

المؤلفون: Sentell, Zachary T., Nurcombe, Zachary W., Mougharbel, Lina, Anastasio, Natascia, Rivière, Jean-Baptiste, Babayeva, Sima, Goodyer, Paul R., Torban, Elena, Kitzler, Thomas M.

المصدر: https://www.nature.com/ejhg/journal-information ; https://doi.org/10.1038/s41431-024-01668-x.

مصطلحات موضوعية: Hypomorphic variant, Mendelian disorders, End-stage renal disease, Renal ciliopathy, Next-generation sequencing, CC2D2A, Chronic kidney disease

Relation: https://escholarship.mcgill.ca/concern/articles/s7526k182

الاتاحة: https://escholarship.mcgill.ca/concern/articles/s7526k182

المؤلفون: Ravel, Jean-Marie, Dreumont, Natacha, Mosca, Pauline, Smith, Desiree E. C., Mendes, Marisa I., Wiedemann, Arnaud, Coelho, David, Schmitt, Emmanuelle, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Thevenon, Julien, Kuentz, Paul, Polivka, Marc, Fuchs, Sabine A., Kok, Gautam, Thauvin-Robinet, Christel, Guéant, Jean-Louis, Salomons, Gajja S., Faivre, Laurence, Feillet, François

المصدر: Ravel , J-M , Dreumont , N , Mosca , P , Smith , D E C , Mendes , M I , Wiedemann , A , Coelho , D , Schmitt , E , Rivière , J-B , Tran Mau-Them , F , Thevenon , J , Kuentz , P , Polivka , M , Fuchs , S A , Kok , G , Thauvin-Robinet , C , Guéant , J-L , Salomons , G S , Faivre , L & Feillet , F 2021 , ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, ....

الاتاحة: https://research.vumc.nl/en/publications/ce873bd0-0564-48d4-9189-d2bacf3dcf12
https://doi.org/10.1002/humu.24285
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85116501009&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/34570399