المؤلفون: de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle, Bryant, Emily, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen, Friedman, Jennifer, Iascone, Maria, Cereda, Anna, Miao, Térence, LeGuern, Eric, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn, Owens, Joshua, Husami, Ammar, Chaudhari, Bimal, Stone, Brandon, Burns, Katie, Li, Rachel, de Lange, Iris, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf, Trimouille, Aurélien, Argilli, Emanuela

المصدر: Journal of Medical Genetics. 60(10)

مصطلحات موضوعية: epilepsy, human genetics, sequence analysis, DNA, Humans, Brain, Genotype, Intellectual Disability, Microcephaly, Periventricular Nodular Heterotopia, Phenotype, Seizures

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7j44m3ns

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

المصدر: Molecular Psychiatry. 28(2)

مصطلحات موضوعية: Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6039092w
https://escholarship.org/content/qt6039092w/qt6039092w.pdf

المؤلفون: Stollenwerk, Tobias, Michaud, Vincent, Lobe, Elisabeth, Picard, Mathieu, Basermann, Achim, Botter, Thierry

مصطلحات موضوعية: Quantum Physics

URL الوصول: http://arxiv.org/abs/2006.09724

المؤلفون: Bernard, Célia, Joly Kukla, Charlotte, Rakotoarivony, Ignace, Duhayon, Maxime, Stachurski, Frédéric, Huber, Karine, Giupponi, Carla, Zortman, Iyonna, Holzmuller, Philippe, Pollet, Thomas, Janneau, Mélanie, Mercey, Alice, Vachiéry, Nathalie, Lefrançois, Thierry, Garros, Claire, Michaud, Vincent, Comtet, Loïc, Despois, Léa, Pourquier, Philippe, Picard, Caroline, Journeaux, Alexandra, Thomas, Damien, Godard, Sabine, Moissonnier, Elodie, Mely, Stéphane, Sega, Manon, Pannetier, Delphine, Baize, Sylvain, Vial, Laurence

المصدر: Eurosurveillance

مصطلحات موضوعية: L72 - Organismes nuisibles des animaux, L73 - Maladies des animaux, fièvre hémorragique de Crimée-Congo, zoonose, maladie transmissible par tiques, vecteur de maladie, surveillance épidémiologique, organisme nuisible aux animaux, maladie de l'homme, transmission des maladies, virus de la fièvre hémorragique de Crimée-Congo, Hyalomma, sérum sanguin, http://aims.fao.org/aos/agrovoc/c_ac826b92, http://aims.fao.org/aos/agrovoc/c_8530, http://aims.fao.org/aos/agrovoc/c_24908, http://aims.fao.org/aos/agrovoc/c_8164, http://aims.fao.org/aos/agrovoc/c_16411, http://aims.fao.org/aos/agrovoc/c_16195, http://aims.fao.org/aos/agrovoc/c_29198, http://aims.fao.org/aos/agrovoc/c_2329, http://aims.fao.org/aos/agrovoc/c_f4435348, http://aims.fao.org/aos/agrovoc/c_3703, http://aims.fao.org/aos/agrovoc/c_9323, http://aims.fao.org/aos/agrovoc/c_3081

جغرافية الموضوع: France

وصف الملف: text

Relation: http://agritrop.cirad.fr/610885/; Detection of Crimean-Congo haemorrhagic fever virus in Hyalomma marginatum ticks, southern France, May 2022 and April 2023. Bernard Célia, Joly Kukla Charlotte, Rakotoarivony Ignace, Duhayon Maxime, Stachurski Frédéric, Huber Karine, Giupponi Carla, Zortman Iyonna, Holzmuller Philippe, Pollet Thomas, Janneau Mélanie, Mercey Alice, Vachiéry Nathalie, Lefrançois Thierry, Garros Claire, Michaud Vincent, Comtet Loïc, Despois Léa, Pourquier Philippe, Picard Caroline, Journeaux Alexandra, Thomas Damien, Godard Sabine, Moissonnier Elodie, Mely Stéphane, Sega Manon, Pannetier Delphine, Baize Sylvain, Vial Laurence. 2024. Eurosurveillance, 29 (6), 6 p.https://doi.org/10.2807/1560-7917.ES.2024.29.6.2400023; http://agritrop.cirad.fr/610885/1/eurosurv-29-6_2.pdf

الاتاحة: http://agritrop.cirad.fr/610885/
https://doi.org/10.2807/1560-7917.ES.2024.29.6.2400023

المؤلفون: Diallo, Modibo, Courdier, Cécile, Mercier, Elina, Sequeira, Angele, Defay-Stinat, Alicia, Plaisant, Claudio, Mesdaghi, Shahram, Rigden, Daniel, Javerzat, Sophie, Lasseaux, Eulalie, Bourgeade, Laetitia, Audebert-Bellanger, Séverine, Dollfus, Hélène, Hadj-Rabia, Smail, Morice-Picard, Fanny, Philibert, Manon, Sidibé, Mohamed Kole, Smirnov, Vasily, Sylla, Ousmane, Michaud, Vincent, Arveiler, Benoit

المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), University of Liverpool, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de dermatologie Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux)-Hôpital Haut-Lévêque CHU Bordeaux, Hôpital Fondation Adolphe de Rothschild = Adolphe de Rothschild Foundation Hospital, Service de pathologie CHU Lille, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service de génétique médicale, Université de Bordeaux (UB)-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux)-Groupe hospitalier Pellegrin, ANR-21-CE17-0041,OCAGEN,Approches de génétique moléculaire et fonctionnelle pour déchiffrer les mécanismes physiopathologiques de l'albinisme oculocutané.(2021)

المصدر: ISSN: 1661-6596.

مصطلحات موضوعية: Albinism, Splice variants, Exon skipping, Pseudoexon, RT-PCR, Minigene assay, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/39201349; PUBMED: 39201349; PUBMEDCENTRAL: PMC11355033

الاتاحة: https://hal.science/hal-04732542
https://hal.science/hal-04732542v1/document
https://hal.science/hal-04732542v1/file/MRGM_Int.J.Mol.Sci_2024_Diallo.pdf
https://doi.org/10.3390/ijms25168657

المؤلفون: Cuinat, Silvestre, Quélin, Chloé, Effray, Claire, Dubourg, Christèle, Le Bouar, Gwenaelle, Cabaret-Dufour, Anne-Sophie, Loget, Philippe, Proisy, Maia, Sauvestre, Fanny, Sarreau, Mélie, Martin-Berenguer, Sophie, Beneteau, Claire, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Trimouille, Aurélien, Macé, Pierre, Sigaudy, Sabine, Glazunova, Olga, Torrents, Julia, Raymond, Laure, Saint-Frison, Marie-Hélène, Attié-Bitach, Tania, Lefebvre, Mathilde, Capri, Yline, Bourgon, Nicolas, Thauvin-Robinet, Christel, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Brehin, Anne-Claire, Goldenberg, Alice, Patrier-Sallebert, Sophie, Perani, Alexandre, Dauriat, Benjamin, Bourthoumieu, Sylvie, Yardin, Catherine, Marquet, Valentine, Barnique, Marion, Fiorenza-Gasq, Maryse, Marey, Isabelle, Tournadre, Danielle, Doumit, Raïa, Nugues, Frédérique, Barakat, Tahsin Stefan, Bustos, Francisco, Jaillard, Sylvie, Launay, Erika, Pasquier, Laurent, Odent, Sylvie

المصدر: Cuinat , S , Quélin , C , Effray , C , Dubourg , C , Le Bouar , G , Cabaret-Dufour , A-S , Loget , P , Proisy , M , Sauvestre , F , Sarreau , M , Martin-Berenguer , S , Beneteau , C , Naudion , S , Michaud , V , Arveiler , B , Trimouille , A , Macé , P , Sigaudy , S , Glazunova , O , Torrents , J , Raymond , L , Saint-Frison , M-H , Attié-Bitach , T , Lefebvre , M , Capri , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/3f5dfc1c-7c5f-4ee0-b692-971ac9a550cb
https://doi.org/10.1136/jmg-2024-109854
https://pure.eur.nl/ws/files/154582683/Extending_the_clinical_spectrum_of_X-linked_Tonne-Kalscheuer_syndrome_TOKAS_.pdf
http://www.scopus.com/inward/record.url?scp=85196265159&partnerID=8YFLogxK

المؤلفون: Diallo, Modibo, Sylla, Ousmane, Sidibé, Mohamed Kole, Plaisant, Claudio, Mercier, Elina, Sequeira, Angèle, Javerzat, Sophie, Hadid, Abdelaziz, Lasseaux, Eulalie, Michaud, Vincent, Arveiler, Benoit

المصدر: Pigment Cell & Melanoma Research ; ISSN 1755-1471 1755-148X

الاتاحة: http://dx.doi.org/10.1111/pcmr.13175
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pcmr.13175

المؤلفون: Sabbagh, Quentin, Haghshenas, Sadegheh, Piard, Juliette, Trouvé, Chloé, Amiel, Jeanne, Attié-Bitach, Tania, Balci, Tugce, Barat-Houari, Mouna, Belonis, Alyce, Boute, Odile, Brightman, Diana S., Bruel, Ange-Line, Caraffi, Stefano Giuseppe, Chatron, Nicolas, Collet, Corinne, Dufour, William, Edery, Patrick, Fong, Chin-To, Fusco, Carlo, Gatinois, Vincent, Gouy, Evan, Guerrot, Anne-Marie, Heide, Solveig, Joshi, Aakash, Karp, Natalya, Keren, Boris, Lesieur-Sebellin, Marion, Levy, Jonathan, Levy, Michael A., Lozano, Claire, Lyonnet, Stanislas, Margot, Henri, Marzin, Pauline, McConkey, Haley, Michaud, Vincent, Nicolas, Gaël, Nizard, Mevyn, Paulet, Alix, Peluso, Francesca, Pernin, Vincent, Perrin, Laurence, Philippe, Christophe, Prasad, Chitra, Prasad, Madhavi, Relator, Raissa, Rio, Marlène, Rondeau, Sophie, Ruault, Valentin, Ruiz-Pallares, Nathalie, Sanchez, Elodie

المصدر: Genetics in Medicine ; volume 26, issue 1, page 101007 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.101007
https://api.elsevier.com/content/article/PII:S1098360023010237?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023010237?httpAccept=text/plain

المؤلفون: Jolitz, Laura, Helbig, Ingo, Fitzgerald, Mark P, McKeown Ruggiero, Sarah, Cohen, Stacey, Angelini, Chloe, Vallespin, Elena, Michaud, Vincent, Gerasimenko, Anna, Cogne, Benjamin, Isidor, Bertrand, Keren, Boris, Dyment, David, Heron, Delphine, Karstensen, Helena Gásdal, Cuppen, Inge, Christodoulou, John, Wilson, Meredith, Lake, Nicole J, Biskup, Saskia, Syrbe, Steffen, Mori, Takayasu, Becker, Lena-Luise, Kaindl, Angela M

المصدر: Ann Neurol ; ISSN:1531-8249

Relation: https://doi.org/10.1002/ana.27141; https://pubmed.ncbi.nlm.nih.gov/39749750

الاتاحة: https://doi.org/10.1002/ana.27141
https://pubmed.ncbi.nlm.nih.gov/39749750

المؤلفون: van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A. J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M. E. Suzanne, Lichty, Angie, Mannens, Marcel M. A. M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

المصدر: van Jaarsveld , R H , Reilly , J , Cornips , M-C , Hadders , M A , Agolini , E , Ahimaz , P , Anyane-Yeboa , K , Bellanger , S A , van Binsbergen , E , van den Boogaard , M-J , Brischoux-Boucher , E , Caylor , R C , Ciolfi , A , van Essen , T A J , Fontana , P , Hopman , S , Iascone , M , Javier , M M , Kamsteeg , E-J , Kerkhof , J , Kido , J , Kim , H-G ....

الاتاحة: https://research.vumc.nl/en/publications/3b04e7e5-7564-479a-aa70-2dd1d5f307dd
https://doi.org/10.1016/j.gim.2022.09.006
http://www.scopus.com/inward/record.url?scp=85141320488&partnerID=8YFLogxK

المؤلفون: van Jaarsveld, Richard H, Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A, Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C, Ciolfi, Andrea, van Essen, Ton A J, Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M, Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A, Lewis, M E Suzanne, Lichty, Angie, Mannens, Marcel M A M, Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A, Yosovich, Keren, Yuskaitis, Christopher J, Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

المساهمون: Genetica Sectie Genoomdiagnostiek, CMM Groep Lens, Cancer, Child Health, Genetica Klinische Genetica, Brain

مصطلحات موضوعية: Human Genetics, KDM2B, MDEMs, Methylation signatures, Neurodevelopmental disorders, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/447389

الاتاحة: https://dspace.library.uu.nl/handle/1874/447389

المؤلفون: Valente, Adeline, Jiolle, D., Ravel, Sophie, Porciani, Angélique, Vial, Laurence, Michaud, Vincent, Kwiatek, Olivier, Pedarrieu, Aurélie, Missé, Dorothée, Ferraris, Pauline, Bretagnolle, François, Bitome-Essono, Paul-Yannick, Makanga, Boris Kevin, Rougeron, Virginie, Prugnolle, Franck, Paupy, Christophe

المساهمون: Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD Occitanie )-Université de Montpellier (UM), Interactions hôtes-vecteurs-parasites-environnement dans les maladies tropicales négligées dues aux trypanosomatides (UMR INTERTRYP), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut de Recherche pour le Développement (IRD)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université de Bordeaux (UB), Animal, Santé, Territoires, Risques et Ecosystèmes (UMR ASTRE), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département Systèmes Biologiques (Cirad-BIOS), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad), Biogéosciences UMR 6282 (BGS), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherche en Ecologie Tropicale, Reconciling Ecological and Human Adaptations for Biosphere Sustainability (REHABS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Nelson Mandela University Port Elizabeth, ANR-16-CE35-0010,TIGERBRIDGE,Invasion d'Ae. albopictus dans les écosystèmes forestiers d'Afrique Centrale et risque d'émergence de nouveaux virus zoonotiques(2016), European Project: 731060,INFRAVEC2(2017), European Project: 734548,ZIKAlliance(2016)

المصدر: ISSN: 1865-1674.

مصطلحات موضوعية: AFRIQUE SUBSAHARIENNE, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

Relation: info:eu-repo/grantAgreement//731060/EU/Research Infrastructures for the control of vector-borne diseases/INFRAVEC2; info:eu-repo/grantAgreement//734548/EU/A global alliance for Zika virus control and prevention/ZIKAlliance; IRD: fdi:010088454; WOS: 001033651100001

الاتاحة: https://hal.science/hal-04174029
https://hal.science/hal-04174029v1/document
https://hal.science/hal-04174029v1/file/Valente_Flying_seringes.pdf
https://doi.org/10.1155/2023/9145289

المؤلفون: Sergouniotis, Panos, Michaud, Vincent, Lasseaux, Eulalie, Campbell, Christopher, Plaisant, Claudio, Javerzat, Sophie, Birney, Ewan, Ramsden, Simon, Black, Graeme, Arveiler, Benoit

المصدر: Sergouniotis , P , Michaud , V , Lasseaux , E , Campbell , C , Plaisant , C , Javerzat , S , Birney , E , Ramsden , S , Black , G & Arveiler , B 2023 , ' A multilayered approach to the analysis of genetic data from individuals with suspected albinism ' , Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-109088

مصطلحات موضوعية: albinism, nystagmus, foveal hypoplasia, genetic testing, clinical utility

Relation: https://research.manchester.ac.uk/en/publications/16f626ba-8eb6-4456-b8cf-6dcc49922112

الاتاحة: https://research.manchester.ac.uk/en/publications/16f626ba-8eb6-4456-b8cf-6dcc49922112
https://doi.org/10.1136/jmg-2022-109088

المؤلفون: Michaud, Vincent, Sequeira, Angèle, Mercier, Elina, Lasseaux, Eulalie, Plaisant, Claudio, Hadj-Rabia, Smail, Whalen, Sandra, Bonneau, Dominique, Dieux Coeslier, Anne, Morice-Picard, Fanny, Coursimault, Juliette, Arveiler, Benoit, Javerzat, Sophie

المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 1755-148X ; Pigment Cell & Melanoma research ; https://hal.science/hal-04461334 ; Pigment Cell & Melanoma research, 2023, ⟨10.1111/pcmr.13123⟩.

مصطلحات موضوعية: Albinism, diagnosis, Exon skipping, mRNA, Noninvasive, OCA2, Variant of unknown significance, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: hal-04461334; https://hal.science/hal-04461334; https://hal.science/hal-04461334/document; https://hal.science/hal-04461334/file/MRGM_PigmentCellMelanomaRes_2023_Michaud.pdf

الاتاحة: https://hal.science/hal-04461334
https://hal.science/hal-04461334/document
https://hal.science/hal-04461334/file/MRGM_PigmentCellMelanomaRes_2023_Michaud.pdf
https://doi.org/10.1111/pcmr.13123

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

المصدر: 1359-4184 ; Molecular psychiatry

مصطلحات موضوعية: Chemistry, Biology, Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000884630500002

الاتاحة: https://hdl.handle.net/10067/1920710151162165141
https://repository.uantwerpen.be/docstore/d:irua:15088

المؤلفون: Cioclu, Maria Cristina, Mosca, Ilaria, Ambrosino, Paolo, Puzo, Deborah, Bayat, Allan, Wortmann, Saskia B., Koch, Johannes, Strehlow, Vincent, Shirai, Kentaro, Matsumoto, Naomichi, Sanders, Stephan J., Michaud, Vincent, Legendre, Marine, Riva, Antonella, Striano, Pasquale, Muhle, Hiltrud, Pendziwiat, Manuela, Lesca, Gaetan, Mangano, Giuseppe Donato, Nardello, Rosaria, Lemke, Johannes R., Møller, Rikke S., Soldovieri, Maria Virginia, Rubboli, Guido, Taglialatela, Maurizio

المصدر: Cioclu , M C , Mosca , I , Ambrosino , P , Puzo , D , Bayat , A , Wortmann , S B , Koch , J , Strehlow , V , Shirai , K , Matsumoto , N , Sanders , S J , Michaud , V , Legendre , M , Riva , A , Striano , P , Muhle , H , Pendziwiat , M , Lesca , G , Mangano , G D , Nardello , R , KCNT2-study group , Lemke , J R , Møller , R S , Soldovieri , ....

مصطلحات موضوعية: Genotype, HEK293 Cells, Humans, Intellectual Disability/drug therapy, Neuroblastoma, Phenotype, Potassium Channels, Sodium-Activated/genetics

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/cedb2bc1-9cb1-4a69-b282-4321a151acad
https://doi.org/10.1002/ana.26662
https://findresearcher.sdu.dk/ws/files/263854003/ana.26662.pdf

المؤلفون: Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, de Saint-Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Le Camus, Caroline Hachon, Hoebeke, Celia, The Tich, Sylvie Nguyen, Perivier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothee, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Garcia-Cazorla, Angels, Vuillaumier, Sandrine, Petit, Vincent, Boespflug-Tanguy, Odile, de Vivo, Darryl, C, An, Isabelle, Bailly, Laurent, Bendetowicz, David, Charles, Perrine, Delorme, Cécile, Demeret, Sophie, Giron, Camille, Heide, Solveig, Heinzmann, Anna, Lalaude, Mathilde, Méneret, Aurélie, Mezouar, Nicolas, Monin, Marie-Lorraine, Mouthon, Linda, Roze, Emmanuel, Tarrano, Clément, Villain, Nicolas, Yazbeck, Elise, Auvin, Stéphane, Da Costa, Lydie, Dozières, Blandine, Portes, Vincent Des, Gokce-Samar, Zeynep, Panagiotakaki, Eleni, Souci, Sabrine, Toulouse, Joseph, Bellesme, Céline, Maurey, Hélène, Salah, Lucie, de Villemeur, Thierry Billette, Garzon, Pauline, Héron, Bénédicte, Isapof, Arnaud, Nougues, Marie-Christine, Ravelli, Claudia, Renaldo, Florence, Rodriguez, Diana, Valence, Stéphanie, Dangles, Marie-Thérèse, de Lonlay, Pascale, Desguerre, Isabelle, Durrleman, Chloé, Hully, Marie, Albertini, Francesca, Cano, Aline, Chabrol, Brigitte, Chavany, Julie, Kaphan, Elsa, Lagarde, Stanislas, Villeneuve, Nathalie, Avez-Couturier, Justine, Chaton, Laurence, Cuvellier, Jean-Christophe, Dehak, Rabha, Ballay, Florence Flamein, Floret, Valentine, Remérand, Ganaëlle, Abi Warde, Marie-Thérèse, Anheim, Mathieu, de Feraudy, Yvan, Gebus, Odile, Perriard, Caroline, Spitz, Marie-Aude, Khalil, Mirna, Tosi, Cécilia Marelli, Alvarez, Blanca Mercedes, Meyer, Pierre, Valle, Sarai Urtiaga, Canon, Mathilde, Ioos, Christine, Espil, Caroline, Husson, Marie, Goizet, Cyril, Michaud, Vincent, Pedespan, Jean-Michel, Damaj, Léna, Hadjadj, Sarah, Lavillaureix, Alinoë, Lepage, Jean-Marie, Ugolin, Mélissa, Froget, Rachel, Laroche, Cécile, Cancès, Claude, Salel, Yu Jin, Viguier, Agnès, Mazzola, Laure, Perrin, Laurine, Besson, Gérard, Dubois, Fanny, Lametery, Elodie, Jacquet, Coralie, de Pontual, Loïc, Castelnau, Pierre, Lagrue, Emmanuelle, Gibaud, Marc, Chouchane, Mondher, Darmency, Véronique, Fatus, Clémence Fauconnier, Bilbault, Claire, Cullier, Anne Charlotte, Mekary, Jacinthe, Touhami, Jawida, Baer, Marie-Elodie, Litou, Nadine, Samaan, Simon, Béesau, Christophe, Bitaudeau, Floriane, Cousin, Christelle, Desport, Elodie, Djouadi, Lynda, Hamadi, Yasmine, Lebreton, Emeline, Moriceau, Sandra

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/37076312; hal-04347222; https://hal.science/hal-04347222; https://hal.science/hal-04347222/document; https://hal.science/hal-04347222/file/WNL-2023-000173.pdf; PUBMED: 37076312; PUBMEDCENTRAL: PMC10256121

الاتاحة: https://hal.science/hal-04347222
https://hal.science/hal-04347222/document
https://hal.science/hal-04347222/file/WNL-2023-000173.pdf
https://doi.org/10.1212/WNL.0000000000207296

المؤلفون: SEGUY, Paul-Henri, KOROBELNIK, Jean-Francois, DELYFER, Marie-Noelle, MICHAUD, Vincent, ARVEILER, Benoit, LASSEAUX, Eulalie, GATTOUSSI, Sarra, ROUGIER, Marie-Benedicte, TRIN, Kilian, MORICE-PICARD, Fanny, GHOMASHCHI, Nathalie, COSTE, Valentine

مصطلحات موضوعية: albinism, OCT, foveal hypoplasia, choroid, genetic diseases, Sciences du Vivant [q-bio]/Santé publique et épidémiologie

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/188166

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/188166
https://hdl.handle.net/20.500.12278/188166
https://doi.org/10.1167/iovs.64.12.26

المؤلفون: JIN, Danni, WEK, Sheree A, CORDOVA, Ricardo A, WEK, Ronald C, LACOMBE, Didier, MICHAUD, Vincent, MUSIER-FORSYTH, Karin

مصطلحات موضوعية: Aminoacylation, Aminoacyl-tRNA synthetase, EPRS1, Exome sequencing, Integrated stress response, Leukodystrophy, Psychomotor developmental delay, tRNA, Sciences du Vivant [q-bio]/Génétique

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/184757

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/184757
https://hdl.handle.net/20.500.12278/184757
https://doi.org/10.1111/cge.14269

المؤلفون: Jin, Danni, Wek, Sheree A., Cordova, Ricardo A., Wek, Ronald C., Lacombe, Didier, Michaud, Vincent, Musier-Forsyth, Karin

المساهمون: Biochemistry and Molecular Biology, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Aminoacylation, Aminoacyl‐tRNA synthetase, EPRS1, Exome sequencing, Integrated stress response, Leukodystrophy, Psychomotor developmental delay, tRNA

وصف الملف: application/pdf

Relation: Clinical Genetics; Jin D, Wek SA, Cordova RA, et al. Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness. Clin Genet. 2023;103(3):358-363. doi:10.1111/cge.14269; https://hdl.handle.net/1805/37433

الاتاحة: https://hdl.handle.net/1805/37433