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1
المؤلفون: Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
المساهمون: Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera [San Carlos, CA, USA], Children’s Hospital Los Angeles [Los Angeles], Keck School of Medicine [Los Angeles], University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York Medical College (NYMC), University of Illinois [Chicago] (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand [Johannesburg] (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital [Mississauga, ON, Canada] (THP-MH), University of Washington [Seattle], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children [Toronto] (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California [Los Angeles] (UCLA), University of California (UC), The Jackson Laboratory [Bar Harbor] (JAX), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Heidelberg University Hospital [Heidelberg], This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834., Betancur, Catalina
المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩مصطلحات موضوعية: ClinGen, MESH: Humans, Autism Spectrum Disorder, Autism, MESH: Autism Spectrum Disorder* / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Intellectual Disability, MESH: Autistic Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, Humans, Autistic Disorder, MESH: Neurodevelopmental Disorders* / genetics, Genetics (clinical), Gene–disease validity
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8
https://doi.org/10.1016/j.gim.2022.05.001 -
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المؤلفون: Vincenzo Salpietro1, 2 3, 140, Christine L. Dixon4, Hui Guo5, 6 140, Oscar D. Bello Stephanie Efthymiou 1, 4, Reza Maroofian1, Gali Heimer7, Lydie Burglen 8, Stephanie Valence 9, Erin Torti 10, Moritz Hacke11, Julia Rankin12, Huma Tariq1, Estelle Colin13, Vincent Procaccio13, Pasquale Striano2, 3, Kshitij Mankad15, Andreas Lieb 4, Sharon Chen16, Laura Pisani16, Conceicao Bettencourt 17, Roope Männikkö 1, Andreea Manole1, Alfredo Brusco 18, Enrico Grosso18, Giovanni Battista Ferrero19, Judith Armstrong-Moron20, Sophie Gueden21, Omer Bar-Yosef7, Michal Tzadok7, Kristin G. Monaghan10, Teresa Santiago-Sim10, Richard E. Person10, Megan T. Cho10, Rebecca Willaert10, Yongjin Yoo22, Jong-Hee Chae23, Yingting Quan6, Huidan Wu6, Tianyun Wang5, 6, Raphael A. Bernier24, Kun Xia6, Alyssa Blesson25, Mahim Jain25, Mohammad M. Motazacker26, Bregje Jaeger27, Amy L. Schneider 28, Katja Boysen28, Alison M. Muir 29, Candace T. Myers30, Ralitza H. Gavrilova31, Lauren Gunderson31, Laura Schultz-Rogers 31, Eric W. Klee31, David Dyment32, Matthew Osmond32, 33 34, Mara Parellada35, Cloe Llorente36, Javier Gonzalez-Peñas37, Angel Carracedo38, Arie Van Haeringen40, Claudia Ruivenkamp40, Caroline Nava41, Delphine Heron41, Rosaria Nardello42, Michele Iacomino43, Carlo Minetti2, Aldo Skabar44, Antonella Fabretto44, SYNAPS Study GroupMiquel Raspall-Chaure45, Michael Chez46, Anne Tsai47, Emily Fassi48, Marwan Shinawi48, John N. Constantino49, Rita De Zorzi50, Sara Fortuna 50, Fernando Kok51, Boris Keren41, Dominique Bonneau13, Murim Choi 22, Bruria Benzeev7, Federico Zara43, Heather C. Mefford29, Ingrid E. Scheffer28, Jill Clayton-Smith53, Alfons Macaya45, James E. Rothman4, Evan E. Eichler 5, Dimitri M. Kullmann 4, Henry Houlden 1, SYNAPS Study Group Michael G. Hanna1, Enrico Bugiardini1, Isabel Hostettler1, Benjamin O’Callaghan1, Alaa Khan1, Andrea Cortese1, Emer O’Connor1, Wai Y. Yau1, Thomas Bourinaris1, Rauan Kaiyrzhanov1, Viorica Chelban1, Monika Madej1, Maria C. Diana2, Maria S. Vari2, Marina Pedemonte2, Claudio Bruno2, Ganna Balagura3, Marcello Scala3, Chiara Fiorillo3, Lino Nobili3, Nancy T. Malintan4, Maria N. Zanetti4, Shyam S. Krishnakumar4, Gabriele Lignani4, James E. C. Jepson4, Paolo Broda43, Simona Baldassari43, Pia Rossi43, Floriana Fruscione43, Francesca Madia43, Monica Traverso43, Patrizia De-Marco43, Belen Pérez-Dueñas45, Francina Munell45, Yamna Kriouile57, Mohamed El-Khorassani57, Blagovesta Karashova58, Daniela Avdjieva58, Hadil Kathom58, Radka Tincheva58, Lionel Van-Maldergem59, Wolfgang Nachbauer60, Sylvia Boesch60, Antonella Gagliano61, Elisabetta Amadori62, Jatinder S. Goraya63, Tipu Sultan64, Salman Kirmani65, Shahnaz Ibrahim66, Farida Jan66, Jun Mine67, Selina Banu68, Pierangelo Veggiotti69, Gian V. Zuccotti69, Michel D. Ferrari70, Arn M. J. Van Den Maagdenberg70, Alberto Verrotti71, Gian L. Marseglia72, Salvatore Savasta72, Miguel A. Soler73, Carmela Scuderi74, Eugenia Borgione74, Roberto Chimenz75, Eloisa Gitto75, Valeria Dipasquale75, Alessia Sallemi75, Monica Fusco75, Caterina Cuppari75, Maria C. Cutrupi75, Martino Ruggieri76, Armando Cama77, Valeria Capra77, Niccolò E. Mencacci78, Richard Boles79, Neerja Gupta80, Madhulika Kabra80, Savvas Papacostas81, Eleni Zamba-Papanicolaou81, Efthymios Dardiotis82, Shazia Maqbool83, Nuzhat Rana84, Osama Atawneh85, Shen Y. Lim86, Farooq Shaikh87, George Koutsis88, Marianthi Breza88, Domenico A. Coviello89, Yves A. Dauvilliers90, Issam AlKhawaja91, Mariam AlKhawaja92, Fuad Al-Mutairi93, Tanya Stojkovic94, Veronica Ferrucci, Massimo Zollo, Fowzan S. Alkuraya96, Maria Kinali97, Hamed Sherifa98, Hanene Benrhouma99, Ilhem B. Y. Turki99, Meriem Tazir100, Makram Obeid101, Sophia Bakhtadze102, Nebal W. Saadi103, Maha S. Zaki104, Chahnez C. Triki105, Fabio Benfenati106, Stefano Gustincich106, Majdi Kara107, Vincenzo Belcastro108, Nicola Specchio109, Giuseppe Capovilla110, Ehsan G. Karimiani111, Ahmed M. Salih112, Njideka U. Okubadejo113, Oluwadamilola O. Ojo113, Olajumoke O. Oshinaike113, Olapeju Oguntunde113, Kolawole Wahab114, Abiodun H. Bello114, Sanni Abubakar115, Yahaya Obiabo116, Ernest Nwazor117, Oluchi Ekenze118, Uduak Williams119, Alagoma Iyagba120, Lolade Taiwo121, Morenikeji Komolafe122, Konstantin Senkevich123, Chingiz Shashkin124, Nazira Zharkynbekova125, Kairgali Koneyev126, Ganieva Manizha127, Maksud Isrofilov127, Ulviyya Guliyeva128, Kamran Salayev129, Samson Khachatryan130, Salvatore Rossi131, Gabriella Silvestri131, Nourelhoda Haridy132, Luca A. Ramenghi133, Georgia Xiromerisiou134, Emanuele David135, Mhammed Aguennouz136, Liana Fidani137, Cleanthe Spanaki138, Arianna Tucci139
المساهمون: University College of London [London] (UCL), Instituto Giannina Gaslini, Genoa, University of Genoa (UNIGE), University of Washington [Seattle], Institute of Neurology, Queen Square, London, King‘s College London, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), GeneDx [Gaithersburg, MD, USA], Heidelberg University Hospital [Heidelberg], Royal Devon and Exeter NHS Foundation Trust [UK], Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Universita degli studi di Genova, Great Ormond Street Hospital for Children [London] (GOSH), The University of Sydney, Hofstra University [Hempstead], Università degli studi di Torino (UNITO), Hospital Sant Joan de Déu [Barcelona], Safra Children's Hospital, Seoul National University Hospital, Central South University [Changsha], Kennedy Krieger Institute [Baltimore], University of Amsterdam [Amsterdam] (UvA), University of Melbourne, Mayo Clinic [Rochester], Department of Health Sciences Research [Mayo Clinic] (HSR), Mayo Clinic, University of Ottawa [Ottawa], University of British Columbia (UBC), Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Universidade de Santiago de Compostela [Spain] (USC ), Universiteit Leiden [Leiden], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Palermo - University of Palermo, University of Trieste, Universitat Autònoma de Barcelona (UAB), Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, University of California [Davis] (UC Davis), University of California-University of California, Children’s Hospital Colorado, University of Colorado Anschutz [Aurora], Washington University in Saint Louis (WUSTL), Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Department of Psychiatry, Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, University of Oxford [Oxford], University of São Paulo (USP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Service de Pédiatrie, CHUR Poitiers, Seoul National University [Seoul] (SNU), Pediatric Neurology and Neuromuscular Diseases Unit, University of Manchester [Manchester], Yale University School of Medicine, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Salvy-Córdoba, Nathalie, Università degli studi di Genova = University of Genoa (UniGe), Tel Aviv University (TAU), Università degli studi di Torino = University of Turin (UNITO), 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), Università degli studi di Trieste = University of Trieste, University of California (UC)-University of California (UC), University of Oxford, Universidade de São Paulo = University of São Paulo (USP), Yale School of Medicine [New Haven, Connecticut] (YSM), Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, Salpietro, Vincenzo, Dixon, Christine L, Guo, Hui, Bello, Oscar D, Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andrea, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G, Santiago-Sim, Teresa, Person, Richard E, Cho, Megan T, Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A, Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M, Jaeger, Bregje, Schneider, Amy L, Boysen, Katja, Muir, Alison M, Myers, Candace T, Gavrilova, Ralitza H, Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W, Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N, De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Bori, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C, Scheffer, Ingrid E, Clayton-Smith, Jill, Macaya, Alfon, Rothman, James E, Eichler, Evan E, Kullmann, Dimitri M, Houlden, Henry, Salpietro1, Vincenzo, 3, 2, Dixon4, Christine L., Guo5, Hui, 140, 6, Bello Stephanie Efthymiou 1, Oscar D., Maroofian1, Reza, Heimer7, Gali, 8, Lydie Burglen, 9, Stephanie Valence, Torti 10, Erin, Hacke11, Moritz, Rankin12, Julia, Tariq1, Huma, Colin13, Estelle, Procaccio13, Vincent, Striano2, Pasquale, Mankad15, Kshitij, 4, Andreas Lieb, Chen16, Sharon, Pisani16, Laura, Bettencourt 17, Conceicao, 1, Roope Männikkö, Manole1, Andreea, Brusco 18, Alfredo, Grosso18, Enrico, Battista Ferrero19, Giovanni, Armstrong-Moron20, Judith, Gueden21, Sophie, Bar-Yosef7, Omer, Tzadok7, Michal, Monaghan10, Kristin G., Santiago-Sim10, Teresa, Person10, Richard E., Cho10, Megan T., Willaert10, Rebecca, Yoo22, Yongjin, Chae23, Jong-Hee, Quan6, Yingting, Wu6, Huidan, Wang5, Tianyun, Bernier24, Raphael A., Xia6, Kun, Blesson25, Alyssa, Jain25, Mahim, Motazacker26, Mohammad M., Jaeger27, Bregje, Schneider 28, Amy L., Boysen28, Katja, Muir 29, Alison M., Myers30, Candace T., Gavrilova31, Ralitza H., Gunderson31, Lauren, Schultz-Rogers 31, Laura, Klee31, Eric W., Dyment32, David, Osmond32, Matthew, 34, 33, Parellada35, Mara, Llorente36, Cloe, Gonzalez-Peñas37, Javier, Carracedo38, Angel, Van Haeringen40, Arie, Ruivenkamp40, Claudia, Nava41, Caroline, Heron41, Delphine, Nardello42, Rosaria, Iacomino43, Michele, Minetti2, Carlo, Skabar44, Aldo, Fabretto44, Antonella, Study GroupMiquel Raspall-Chaure45, Synap, Chez46, Michael, Tsai47, Anne, Fassi48, Emily, Shinawi48, Marwan, Constantino49, John N., De Zorzi50, Rita, Fortuna 50, Sara, Kok51, Fernando, Keren41, Bori, Bonneau13, Dominique, Choi 22, Murim, Benzeev7, Bruria, Zara43, Federico, Mefford29, Heather C., Scheffer28, Ingrid E., Clayton-Smith53, Jill, Macaya45, Alfon, Rothman4, James E., Eichler 5, Evan E., Kullmann 4 &, Dimitri M., 1, Henry Houlden, Hanna1, SYNAPS Study Group Michael G., Bugiardini1, Enrico, Hostettler1, Isabel, O’Callaghan1, Benjamin, Khan1, Alaa, Cortese1, Andrea, O’Connor1, Emer, Yau1, Wai Y., Bourinaris1, Thoma, Kaiyrzhanov1, Rauan, Chelban1, Viorica, Madej1, Monika, Diana2, Maria C., Vari2, Maria S., Pedemonte2, Marina, Bruno2, Claudio, Balagura3, Ganna, Scala3, Marcello, Fiorillo3, Chiara, Nobili3, Lino, Malintan4, Nancy T., Zanetti4, Maria N., Krishnakumar4, Shyam S., Lignani4, Gabriele, Jepson4, James E. C., Broda43, Paolo, Baldassari43, Simona, Rossi43, Pia, Fruscione43, Floriana, Madia43, Francesca, Traverso43, Monica, De-Marco43, Patrizia, Pérez-Dueñas45, Belen, Munell45, Francina, Kriouile57, Yamna, El-Khorassani57, Mohamed, Karashova58, Blagovesta, Avdjieva58, Daniela, Kathom58, Hadil, Tincheva58, Radka, Van-Maldergem59, Lionel, Nachbauer60, Wolfgang, Boesch60, Sylvia, Gagliano61, Antonella, Amadori62, Elisabetta, Goraya63, Jatinder S., Sultan64, Tipu, Kirmani65, Salman, Ibrahim66, Shahnaz, Jan66, Farida, Mine67, Jun, Banu68, Selina, Veggiotti69, Pierangelo, Zuccotti69, Gian V., Ferrari70, Michel D., Van Den Maagdenberg70, Arn M. J., Verrotti71, Alberto, Marseglia72, Gian L., Savasta72, Salvatore, Soler73, Miguel A., Scuderi74, Carmela, Borgione74, Eugenia, Chimenz75, Roberto, Gitto75, Eloisa, Dipasquale75, Valeria, Sallemi75, Alessia, Fusco75, Monica, Cuppari75, Caterina, Cutrupi75, Maria C., Ruggieri76, Martino, Cama77, Armando, Capra77, Valeria, Mencacci78, Niccolò E., Boles79, Richard, Gupta80, Neerja, Kabra80, Madhulika, Papacostas81, Savva, Zamba-Papanicolaou81, Eleni, Dardiotis82, Efthymio, Maqbool83, Shazia, Rana84, Nuzhat, Atawneh85, Osama, Lim86, Shen Y., Shaikh87, Farooq, Koutsis88, George, Breza88, Marianthi, Coviello89, Domenico A., Dauvilliers90, Yves A., Alkhawaja91, Issam, Alkhawaja92, Mariam, Al-Mutairi93, Fuad, Stojkovic94, Tanya, Ferrucci, Veronica, Zollo, Massimo, Alkuraya96, Fowzan S., Kinali97, Maria, Sherifa98, Hamed, Benrhouma99, Hanene, Turki99, Ilhem B. Y., Tazir100, Meriem, Obeid101, Makram, Bakhtadze102, Sophia, Saadi103, Nebal W., Zaki104, Maha S., Triki105, Chahnez C., Benfenati106, Fabio, Gustincich106, Stefano, Kara107, Majdi, Belcastro108, Vincenzo, Specchio109, Nicola, Capovilla110, Giuseppe, Karimiani111, Ehsan G., Salih112, Ahmed M., Okubadejo113, Njideka U., Ojo113, Oluwadamilola O., Oshinaike113, Olajumoke O., Oguntunde113, Olapeju, Wahab114, Kolawole, Bello114, Abiodun H., Abubakar115, Sanni, Obiabo116, Yahaya, Nwazor117, Ernest, Ekenze118, Oluchi, Williams119, Uduak, Iyagba120, Alagoma, Taiwo121, Lolade, Komolafe122, Morenikeji, Senkevich123, Konstantin, Shashkin124, Chingiz, Zharkynbekova125, Nazira, Koneyev126, Kairgali, Manizha127, Ganieva, Isrofilov127, Maksud, Guliyeva128, Ulviyya, Salayev129, Kamran, Khachatryan130, Samson, Rossi131, Salvatore, Silvestri131, Gabriella, Haridy132, Nourelhoda, Ramenghi133, Luca A., Xiromerisiou134, Georgia, David135, Emanuele, Aguennouz136, Mhammed, Fidani137, Liana, Spanaki138 &, Cleanthe, Tucci139, Arianna
المصدر: NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), ⟨10.1038/s41467-019-10910-w⟩
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-10910-w⟩
Nature Communications, 10. NATURE PUBLISHING GROUP
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Male, [SDV.GEN] Life Sciences [q-bio]/Genetics, Ion channels in the nervous system, Cohort Studies, fluids and secretions, Loss of Function Mutation, Receptors, AMPA, AMPA receptor, lcsh:Science, Child, reproductive and urinary physiology, AMPA receptor, GluA2, neurodevelopmental disorders, autism spectrum disorder, glutamatergic synaptic transmission, GRIA2, neurodevelopmental disorders, Developmental disorders, Neurodevelopmental disorders, Brain, Magnetic Resonance Imaging, Settore MED/26 - NEUROLOGIA, GluA2, Child, Preschool, Female, Adult, Heterozygote, Adolescent, Science, autism spectrum disorder, Article, Young Adult, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, MESH: Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics, Receptors AMPA/genetics, Intellectual Disability, mental disorders, Humans, Infant, Neurodevelopmental Disorders, Receptors, AMPA, GRIA2, Preschool, Ion channel in the nervous system, Developmental disorders, Synaptic development, NG sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, glutamatergic synaptic transmission, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, NG sequencing, Synaptic development, Ion channel in the nervous system, Next-generation sequencing, lcsh:Q
وصف الملف: application/pdf; ELETTRONICO
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المؤلفون: Yannis Duffourd, Chantal Missirian, Dominique P. Germain, Jacques Puechberty, Damien Sanlaville, Christine Coubes, Tiffany Busa, Laurent Villard, Jérémie Mortreux, Hélène Tevissen, Nicole Philip, Pierre Cacciagli, Vincent Gatinois, JM Pinard, Gwenaël Nadeau
المساهمون: 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), Hôpital Raymond Poincaré [AP-HP], Service de Cytogénétique, Centre hospitalier de Valence, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Clinique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier, FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Bourgogne Franche-Comté [COMUE] (UBFC), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Service de neurologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Centre Hospitalier de Valence (CH DE VALENCE), Service de Cytogénétique (HFME), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), We thank the families for their cooperation. We also thank all the lab technicians involved in this research. Affymetrix microarrays were processed in the Microarray Core Facility of the Institute in Regenerative Medicine and Biotherapy, CHRU-INSERM-UM Montpellier, http://irmb.chu-montpellier.fr., Villard, Laurent, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩مصطلحات موضوعية: Adult, Male, 0301 basic medicine, MESH: Intellectual Disability/genetics, medicine.medical_specialty, Microcephaly, DNA Copy Number Variations, [SDV]Life Sciences [q-bio], Genes, Recessive, [SDV.GEN] Life Sciences [q-bio]/Genetics, Brief Communication, MESH: Abnormalities, Multiple/genetics, 03 medical and health sciences, Cytogenetics, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Allele, Child, Gene, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Medical genetics, Neurodevelopmental disorders, Syndrome, medicine.disease, Phenotype, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, Child, Preschool, Etiology, Intercellular Signaling Peptides and Proteins, Female, MESH: DNA Copy Number Variations, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Carrier Proteins, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
وصف الملف: application/pdf
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المؤلفون: Matthieu P. Robert, Salima El Chehadeh, Geert Vandeweyer, Candace Bensignor, Wilhelmina S. Kerstjens-Frederikse, Darina Prchalova, Hélène Dollfus, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Paul Kuentz, Edwin Reyniers, Patrick Calvas, Caroline Bonnet, Marketa Havlovicova, Rodica Isaiko, Vincent Laugel, Nicolas Chassaing, Julien Thevenon, Christian Gilissen, Morgane Straub, Laurence Faivre, Yannis Duffourd, Miroslava Hancarova, Bart Loeys, R. Frank Kooy, Ange-Line Bruel, Rolph Pfundt, Catherine Creuzot-Garcher, Jolien S. Klein Wassink-Ruiter, Zdenek Sedlacek
المساهمون: FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Génétique des Anomalies du Développement ( GAD ), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne ( UB ), Service de pédiatrie (CHU de Dijon), Service d'Ophtalmologie (CHU de Dijon), Service de Cardiologie (hôpital général, CHU Dijon), Hôpital général (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), FHU TRANSLAD (CHU de Dijon), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Service de Cardiologie, Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: European Journal of Human Genetics, 25(1), 43-51. Nature Publishing Group
European Journal of Human Genetics, 25, 43-51
European journal of human genetics: EJHG
European journal of human genetics: EJHG, Nature, 2016, 25 (1), pp.43-51. 〈http://www.nature.com/ejhg/index.html〉. 〈10.1038/ejhg.2016.133〉
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European journal of human genetics
European Journal of Human Genetics, 25, 1, pp. 43-51مصطلحات موضوعية: 0301 basic medicine, Male, MESH: Heart Defects, Congenital / physiopathology, Microcephaly, Pathology, MESH: Heart Defects, Congenital / genetics, MESH: Exome / genetics, 030105 genetics & heredity, MESH: RNA Splicing / genetics, Microphthalmia, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Child, Exome, MESH: RNA Splicing Factors / genetics, Child, Frameshift Mutation, MESH: High-Throughput Nucleotide Sequencing, Genetics (clinical), Exome sequencing, Coloboma, MESH: Frameshift Mutation, High-Throughput Nucleotide Sequencing, Microdeletion syndrome, Microcephaly, Verheij syndrome, PUF60, Chemistry, Phenotype, Child, Preschool, DISEASES, Medical genetics, Female, RNA Splicing Factors, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 8, MESH: Dwarfism / genetics, Heart Defects, Congenital, medicine.medical_specialty, GENES, Adolescent, RNA Splicing, MESH: Chromosome Deletion, Dwarfism, Biology, MESH: Phenotype, Short stature, Article, PUF60, 03 medical and health sciences, Internal medicine, Intellectual Disability, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Genetics, medicine, Humans, Craniofacial, MESH: Adolescent, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MESH: Humans, MESH: Child, Preschool, medicine.disease, MESH: Repressor Proteins / genetics, MESH: Male, Repressor Proteins, 030104 developmental biology, Endocrinology, MESH: Chromosomes, Human, Pair 8 / genetics, MESH: Dwarfism / physiopathology, MESH: Intellectual Disability / physiopathology, Human medicine, MESH: Intellectual Disability / genetics, Verheij syndrome, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
وصف الملف: pdf
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المؤلفون: Delplanque, Jérôme, Devos, David, Huin, Vincent, Genet, Alexandre, Sand, Olivier, Moreau, Caroline, Goizet, Cyril, Charles, Perrine, Anheim, Mathieu, Monin, Marie Lorraine, Buée, Luc, Destée, Alain, Grolez, Guillaume, Delmaire, Christine, Dujardin, Kathy, Dellacherie, Delphine, Brice, Alexis, Stevanin, Giovanni, Strubi-Vuillaume, Isabelle, Durr, Alexandra, Sablonnière, Bernard
المساهمون: Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (EGENODIA (GI3M)), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Département de neurologie [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Biologie Pathologie [CHRU Lille] (Pôle de Pathologie), Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Departement de Neuroradiologie [Lille], Service de neuropédiatrie [CHU Lille], 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), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (GI3M), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), HESAM Université (HESAM), HUIN, Vincent, Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP]
المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩مصطلحات موضوعية: MESH: Mutation / physiology, MESH: Intellectual Disability / genetics, MESH: Introns, MESH: Pedigree, MESH: Age of Onset, MESH: Exome / genetics, MESH: Genetic Linkage, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Amino Acid Sequence, MESH: Membrane Proteins / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Spinocerebellar Degenerations / pathology, MESH: Intellectual Disability / psychology, MESH: Chromosomes, Human, Pair 1 / genetics, MESH: Child, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: DNA Mutational Analysis, MESH: Spinocerebellar Degenerations / psychology, MESH: Cohort Studies, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Conserved Sequence, MESH: Humans, MESH: Molecular Sequence Data, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, MESH: Child, Preschool, MESH: Membrane Proteins / physiology, MESH: Cognition Disorders / psychology, MESH: Neuropsychological Tests, MESH: Polymerase Chain Reaction, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Infant, MESH: Male, MESH: France, MESH: Cognition Disorders / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Young Adult, TMEM240, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Spinocerebellar ataxia, MESH: Intelligence Tests, MESH: Female, exome, MESH: Spinocerebellar Degenerations / genetics
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::26c916745d00b3244409eb6269a2f1f0
https://www.hal.inserm.fr/inserm-03017555/file/Delplanque.Brain.2014.Author.version.pdf -
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المؤلفون: Raquel Pittiglio, Beth A. Marosy, Ethylin Wang Jabs, P Calvas, Nicolas Chassaing, Roxann G. Ingersoll, Jill A. Barton, Alan F. Scott, David W. Mohr, Shreya S. Prabhu, Thomas H. Roderick, William C. Bromley, Brian Craig, Laura Kasch, Kimberly F. Doheny
المساهمون: Johns Hopkins University School of Medicine [Baltimore], The Jackson Laboratory [Bar Harbor] (JAX), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], Icahn School of Medicine at Mount Sinai [New York] (MSSM)
المصدر: JAMA Ophthalmology
JAMA Ophthalmology, American Medical Association 2014, 132 (10), pp.1215. ⟨10.1001/jamaophthalmol.2014.1731⟩مصطلحات موضوعية: Proband, Male, MESH: Microcephaly / genetics, Candidate gene, MESH: Sequence Analysis, DNA, MESH: Chromosomes, Human, X / genetics, MESH: HMGB3 Protein / genetics, MESH: Pedigree, MESH: Frameshift Mutation / genetics, MESH: Exome / genetics, Biology, Polymerase Chain Reaction, DNA sequencing, MESH: Genome, Human / genetics, Frameshift mutation, symbols.namesake, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, HMGB3 Protein, Intellectual Disability, MESH: Child, Humans, Microphthalmos, Exome, Child, Frameshift Mutation, Exome sequencing, X-linked recessive inheritance, Growth Disorders, Genetics, Sanger sequencing, Chromosomes, Human, X, MESH: Growth Disorders / genetics, MESH: Humans, Genome, Human, Genetic Diseases, X-Linked, MESH: Polymerase Chain Reaction, Sequence Analysis, DNA, MESH: Microphthalmos / genetics, MESH: Male, 3. Good health, Pedigree, Coloboma, MESH: Coloboma / genetics, Ophthalmology, symbols, Microcephaly, MESH: Genetic Diseases, X-Linked / genetics, MESH: Intellectual Disability / genetics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485582e5d8fe88c73552beb129ca692f
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03240874 -
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المؤلفون: Giovanni Stevanin, Luc Buée, Olivier Sand, David Devos, Guillaume Grolez, Marie Lorraine Monin, Alexandra Durr, Caroline Moreau, Kathy Dujardin, Bernard Sablonnière, Vincent Huin, Alexis Brice, Cyril Goizet, Alexandre Genet, Alain Destée, Mathieu Anheim, Perrine Charles, Christine Delmaire, Jérôme Delplanque, Isabelle Strubi-Vuillaume, Delphine Dellacherie
المساهمون: Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (GI3M), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Biologie Pathologie [CHRU Lille] (Pôle de Pathologie), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Departement de Neuroradiologie [Lille], Service de neuropédiatrie [CHU Lille], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), HESAM Université (HESAM)
المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663. ⟨10.1093/brain/awu202⟩مصطلحات موضوعية: Cerebellum, MESH: Intellectual Disability / genetics, MESH: Introns, MESH: Exome / genetics, MESH: Amino Acid Sequence, MESH: Membrane Proteins / genetics, MESH: Spinocerebellar Degenerations / pathology, Autosomal dominant cerebellar ataxia, MESH: Child, Missense mutation, MESH: DNA Mutational Analysis, Exome, MESH: Spinocerebellar Degenerations / psychology, MESH: Cohort Studies, Exome sequencing, Genetics, MESH: Conserved Sequence, MESH: Membrane Proteins / physiology, MESH: Neuropsychological Tests, MESH: Cognition Disorders / psychology, MESH: Infant, 3. Good health, medicine.anatomical_structure, MESH: Young Adult, Spinocerebellar ataxia, medicine.symptom, MESH: Spinocerebellar Degenerations / genetics, MESH: Mutation / physiology, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, MESH: Pedigree, MESH: Age of Onset, MESH: Genetic Linkage, Biology, MESH: Intellectual Disability / psychology, MESH: Chromosomes, Human, Pair 1 / genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Quantitative Biology - Genomics, Genomics (q-bio.GN), MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Molecular Sequence Data, Cerebellar ataxia, [SCCO.NEUR]Cognitive science/Neuroscience, MESH: Child, Preschool, MESH: Polymerase Chain Reaction, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, MESH: Male, MESH: France, MESH: Cognition Disorders / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, FOS: Biological sciences, TMEM240, Neurology (clinical), MESH: Intelligence Tests, MESH: Female, exome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46a1d5f8e38737563e0f965e51f7d01
https://www.hal.inserm.fr/inserm-03017555/file/Delplanque.Brain.2014.Author.version.pdf -
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المؤلفون: Plaisancié, Julie, Bouneau, Laurence, Cances, Claude, Garnier, Christelle, Benesteau, Jacques, Leonard, Samantha, Bourrouillou, Georges, Calvas, Patrick, Vigouroux, Adeline, Julia, Sophie, Bieth, Eric
المساهمون: Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2014, 57 (1), pp.47-53. ⟨10.1016/j.ejmg.2013.11.002⟩مصطلحات موضوعية: MESH: Adolescent, MESH: Humans, MESH: Disruptive, Impulse Control, and Conduct, MESH: Chromosome Deletion, Behavioral troubles, Psychiatric disorder, Array CGH, MESH: Disruptive, Impulse Control, and Conduct Disorders / genetics, MESH: Disorders / diagnosis, MESH: Comparative Genomic Hybridization, CALY gene, MESH: Chromosomes, Human, Pair 10, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Child, ADHD, del(10)(q26), MESH: Intellectual Disability / diagnosis, MESH: Intellectual Disability / genetics, MESH: Female, MESH: Attention Deficit Disorder with Hyperactivity / genetics, MESH: Attention Deficit Disorder with Hyperactivity / diagnosis, MESH: Genetic Association Studies
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المؤلفون: Dahmani M. Fathallah, William S. Sly, Denis Lepaslier, Koussay Dellagi, Mohamed Bejaoui, Khelifa Chater
المساهمون: Laboratoire d'Immunologie, Institut Pasteur de Tunis, Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Hôpital Charles Nicolle [Tunis], Centre d'Etude du Polymorphisme Humain (CEPH), Université Paris Diderot - Paris 7 (UPD7)-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset, Université de Tunis [Tunis], Saint Louis University (SLU), This work was supported by a grant from the Tunisian State Secretariat for Scientific Research and Technology., We are grateful to the members of the families for their kind collaboration in the study. We thank Dr. H. Louzir for his help with the art work, Fondation Jean Dausset-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7), Université de Tunis
المصدر: Human Genetics
Human Genetics, Springer Verlag, 1997, 99 (5), pp.634-637. ⟨10.1007/s004390050419⟩مصطلحات موضوعية: Male, MESH: Introns, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, 030232 urology & nephrology, MESH: Isoenzymes/genetics, MESH: Genotype, chemistry.chemical_compound, Exon, MESH: Carbonic Anhydrases/genetics, 0302 clinical medicine, MESH: Saudi Arabia/ethnology, MESH: DNA Mutational Analysis, Genetics (clinical), Carbonic Anhydrases, Sequence Tagged Sites, Recombination, Genetic, Genetics, 0303 health sciences, education.field_of_study, MESH: Recombination, Genetic, Acidosis, Renal Tubular, Exons, Pedigree, 3. Good health, Isoenzymes, Osteopetrosis, Female, MESH: Tunisia, MESH: Intellectual Disability/genetics, Tunisia, MESH: Acidosis, Renal Tubular/genetics, Genotype, TaqI, MESH: Pedigree, RNA Splicing, Carbonic anhydrase II, Population, Saudi Arabia, Locus (genetics), Biology, 03 medical and health sciences, Intellectual Disability, MESH: Sequence Tagged Sites, Humans, Gene conversion, Allele, education, Alleles, 030304 developmental biology, MESH: Humans, MESH: Alleles, Introns, MESH: Male, MESH: Isoenzymes/deficiency, chemistry, MESH: Osteopetrosis/genetics, MESH: Carbonic Anhydrases/deficiency, MESH: RNA Splicing, MESH: Exons, MESH: Female, Founder effect