-
1
المؤلفون: Andrea Accogli, Sara Calabretta, Judith St-Onge, Nassima Boudrahem-Addour, Alexandre Dionne-Laporte, Pascal Joset, Silvia Azzarello-Burri, Anita Rauch, Joel Krier, Elizabeth Fieg, Juan C. Pallais, Allyn McConkie-Rosell, Marie McDonald, Sharon F. Freedman, Jean-Baptiste Rivière, Joël Lafond-Lapalme, Brittany N. Simpson, Robert J. Hopkin, Aurélien Trimouille, Julien Van-Gils, Amber Begtrup, Kirsty McWalter, Heron Delphine, Boris Keren, David Genevieve, Emanuela Argilli, Elliott H. Sherr, Mariasavina Severino, Guy A. Rouleau, Patricia T. Yam, Frédéric Charron, Myriam Srour, Maria T. Acosta, David R. Adams, Pankaj Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak-Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David P. Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lorenzo Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, William A. Gahl, Rena A. Godfrey, Alica M. Goldman, David B. Goldstein, Jean-Philippe F. Gourdine, Alana Grajewski, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Nichole Hayes, Frances High, Ingrid A. Holm, Jason Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Lefkothea Karaviti, Emily G. Kelley, Dana Kiley, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Susan Korrick, Mary Koziura, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Byron Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Jozef Lazar, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Jacob McCauley, Colleen E. McCormack, Alexa T. McCray, Thomas O. Metz, Matthew Might, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Archana N. Raja, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Robb K. Rowley, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Vandana Shashi, Kathleen Shields, Jimann Shin, Rebecca Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Kevin S. Smith, Lilianna Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, Nicholas Stong, Jennifer A. Sullivan, Shirley Sutton, David A. Sweetser, Holly K. Tabor, Cecelia P. Tamburro, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Daniel Wegner, Monte Westerfield, Matthew T. Wheeler, Anastasia L. Wise, Lynne A. Wolfe, Jeremy D. Woods, Elizabeth A. Worthey, Shinya Yamamoto, John Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, Stephan Zuchner
المساهمون: McGill University Health Center [Montreal] (MUHC), Istituto di ricovero e cura a carattere scientifico Azienda Ospedaliera Universitaria 'San Martino' (IRCCS AOU San Martino), Institut de Recherches Cliniques de Montréal (IRCM), Université de Montréal (UdeM), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], University hospital of Zurich [Zurich], Universität Zürich [Zürich] = University of Zurich (UZH), Brigham & Women’s Hospital [Boston] (BWH), Harvard Medical School [Boston] (HMS), Duke University [Durham], Duke University Medical Center, Génétique des Anomalies du Développement (GAD), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), University of Cincinnati (UC), Cincinnati Children's Hospital Medical Center, 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), Université de Bordeaux (UB), GeneDx [Gaithersburg, MD, USA], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of California [San Francisco] (UCSF), University of California, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Institute of Physics, Saink School Post, Institut de Physique du Globe de Paris (IPGP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut national des sciences de l'Univers (INSU - CNRS)-IPG PARIS-Université Paris Diderot - Paris 7 (UPD7)-Université de La Réunion (UR)-Centre National de la Recherche Scientifique (CNRS), Genomics Program and Division of Genetics, Harvard Medical School [Boston] (HMS)-Boston Children's Hospital-The Manton Center for Orphan Disease Research, Représentations musicales (Repmus), Sciences et Technologies de la Musique et du Son (STMS), Institut de Recherche et Coordination Acoustique/Musique (IRCAM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche et Coordination Acoustique/Musique (IRCAM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Drapper, HudsonAlpha Institute for Biotechnology [Huntsville, AL], Queen Mary University of London (QMUL), Institute of Child Health, Department of Molecular and Human Genetics (Baylor College of Medicine), Baylor College of Medecine, Division of Biomedical Statistics and Informatics, Mayo Clinic, Facultat de Fisica, Departament Universitari d'Optica, Universitat de València (UV), Department of Pathology, University of Alabama at Birmingham [ Birmingham] (UAB), Center for Neuroscience Research (CNMC), Center for Neuroscience Research, Oregon Health and Science University [Portland] (OHSU), Baylor College of Medicine (BCM), Baylor University, Stanford University School of Medicine [CA, USA], Department of Molecular Cellular and Developmental Biology, University of California [Los Angeles] (UCLA), University of California-University of California-Howard Hughes Medical Institute (HHMI), Human Genetics, Department of Mathematics [Sussex], University of Sussex, Genomics Program and Division of Genetics [Boston, USA], Laboratoire Bordelais de Recherche en Informatique (LaBRI), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB), Bioinformatics Research Center, North Carolina State University [Raleigh] (NC State), University of North Carolina System (UNC)-University of North Carolina System (UNC), Biological Sciences Division, Pacific Northwest National Laboratory (PNNL), Departament de Fisica i Enginyeria Nuclear (DEPARTAMENT DI FISICA), Universitat Politècnica de Catalunya [Barcelona] (UPC), Institute of Human Genetics, Rheinische Friedrich-Wilhelms-Universität Bonn, National University of Singapore (NUS), Institute of Neuroscience [Eugene, OR, États-Unis], University of Oregon [Eugene], Boston Children's Hospital, Department of Molecular and Human Genetics [Houston, USA], Metacohorts Consortium, Department of Biological Sciences [Nashville], Vanderbilt University [Nashville], Columbia University Medical Center (CUMC), Columbia University [New York], School of Irish, Celtic Studies, Irish Folklore and Linguistics, University College Dublin [Dublin] (UCD), Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University, Institute for Human Genomics, University of Miami [Coral Gables], ZFIN, Graduate School of Information Systems, University of Electro-Communications [Tokyo] (UEC), John P. Hussman Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine (UMMSM), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université de Bordeaux (UB)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS)
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (4), pp.854-868. ⟨10.1016/j.ajhg.2019.09.005⟩مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Heterozygote, [SDV]Life Sciences [q-bio], [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, CDH2, Eye, Frameshift mutation, genital defects, corpus callosum, 03 medical and health sciences, 0302 clinical medicine, Report, Genetics, medicine, Missense mutation, Humans, Genitalia, Axon, Frameshift Mutation, Genetics (clinical), N-cadherin, Corpus Callosum Agenesis, Cadherin, eye defects, Cadherins, Molecular biology, Axons, cardiac defects, 030104 developmental biology, medicine.anatomical_structure, ACOG, Neurodevelopmental Disorders, cell-cell adhesion, intellectual disability, Axon guidance, Neural development, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42fdead6ad28f31ad9cfda180c9c0688Test
https://hal.umontpellier.fr/hal-02556784Test -
2
المؤلفون: Patricia T. Yam, Frédéric Charron
المصدر: Nature Chemical Biology. 15:1030-1031
مصطلحات موضوعية: 0303 health sciences, Mechanism (biology), Chemistry, 030302 biochemistry & molecular biology, Cell Biology, Endocytosis, Axon growth, Cell biology, 03 medical and health sciences, nervous system, Extracellular, Phosphorylation, Axon guidance, Receptor, Molecular Biology, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7f77bf6b0060fa881616bc3af854bbbeTest
https://doi.org/10.1038/s41589-019-0383-6Test -
3
المؤلفون: Frédéric Charron, Elisabeth Traiffort, Amina Zahaf, Mary Zakaria, Olivier Pascual, Abdelmoumen Kassoussi, Ines Hristovska, Yousra Laouarem, Marie-Eve Mayeur, Julien Ferent
المصدر: Development. 146
مصطلحات موضوعية: Male, Neurofilament, Blotting, Western, Intermediate Filaments, Receptors, Cell Surface, Cuprizone, Mice, 03 medical and health sciences, Myelin, 0302 clinical medicine, medicine, Animals, Hedgehog Proteins, Axon, Sonic hedgehog, Molecular Biology, Cells, Cultured, Myelin Sheath, 030304 developmental biology, Mice, Knockout, 0303 health sciences, Microglia, biology, Macrophages, Cell Differentiation, Oligodendrocyte, Hedgehog signaling pathway, Myelin basic protein, Cell biology, Mice, Inbred C57BL, Oligodendroglia, medicine.anatomical_structure, nervous system, Immunoglobulin G, biology.protein, 030217 neurology & neurosurgery, Demyelinating Diseases, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d4f6b00578939dbfbea779b59e7c2a5Test
https://doi.org/10.1242/dev.172502Test -
4
المؤلفون: Frédéric Charron, Shannon M. Swikert, Lukas Tamayo-Orrego
المصدر: Cell Cycle
مصطلحات موضوعية: 0301 basic medicine, Senescence, Genome instability, preneoplasia, medicine.disease_cause, Loss of heterozygosity, sonic hedgehog, 03 medical and health sciences, Ptch1, medicine, Animals, Humans, Hedgehog Proteins, TP53, Sonic hedgehog, neoplasms, Molecular Biology, Cellular Senescence, Genetics, Medulloblastoma, Extra Views, biology, p53, Cell Biology, medicine.disease, Hedgehog signaling pathway, nervous system diseases, stomatognathic diseases, 030104 developmental biology, PTCH1, cell senescence, Mutation, Cancer research, biology.protein, Tumor Suppressor Protein p53, Carcinogenesis, Signal Transduction, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5dc10099687a4223936d0c2abd20d41Test
https://doi.org/10.1080/15384101.2016.1189044Test -
5
المؤلفون: Frédéric Charron, Sarah E. Millar, Andrew M. Overmiller, Julio C. Salas-Alanis, Molly R. Marous, Donna M. Brennan-Crispi, Felicia Cooper, Joya Sahu, Natalia A. Riobo-Del Galdo, Kathleen P. McGuinn, Ioanna Ch. Georgiou, Maxwell Frankfurter, Lukas Tamayo-Orrego, Mỹ G. Mahoney
المصدر: The Journal of investigative dermatology. 139(2)
مصطلحات موضوعية: 0301 basic medicine, STAT3 Transcription Factor, Skin Neoplasms, Mice, Transgenic, Dermatology, Biochemistry, Zinc Finger Protein GLI1, Article, 03 medical and health sciences, Paracrine signalling, Mice, 0302 clinical medicine, GLI1, Cell Line, Tumor, medicine, Animals, Humans, Basal cell carcinoma, Hedgehog Proteins, Gene Knock-In Techniques, Sonic hedgehog, Phosphorylation, Autocrine signalling, Molecular Biology, Hedgehog, Skin, Desmoglein 2, biology, integumentary system, Cadherin, Chemistry, Basal Cell Nevus Syndrome, Cell Biology, medicine.disease, Molecular biology, Hedgehog signaling pathway, Patched-1 Receptor, Disease Models, Animal, 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c7845adc461f95ef903a971c816e8faTest
https://pubmed.ncbi.nlm.nih.gov/30291846Test -
6
المؤلفون: Steves Morin, Shirin Makihara, Frédéric Charron, Patricia T. Yam, Jean-François Côté, Julien Ferent
المصدر: Developmental cell. 46(4)
مصطلحات موضوعية: 0301 basic medicine, animal structures, Growth Cones, RAC1, Mice, Transgenic, Nerve Tissue Proteins, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, DOCK, medicine, Animals, Guanine Nucleotide Exchange Factors, Hedgehog Proteins, Axon, Sonic hedgehog, Cytoskeleton, Growth cone, Molecular Biology, Cells, Cultured, Adaptor Proteins, Signal Transducing, Neurons, biology, Dock3, GTPase-Activating Proteins, Gene Expression Regulation, Developmental, Cell Biology, Embryo, Mammalian, Axons, Cell biology, Axon Guidance, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, Spinal Cord, embryonic structures, biology.protein, Axon guidance, Carrier Proteins, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8556b0a7f9cc136ddb8eb1499ae92131Test
https://pubmed.ncbi.nlm.nih.gov/30078728Test -
7
المؤلفون: Frédéric Charron
المصدر: Developmental Cell. 43:655-656
مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Brain tumor, mTORC1, Mechanistic Target of Rapamycin Complex 1, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Precursor cell, medicine, Humans, Hedgehog Proteins, Cerebellar Neoplasms, Molecular Biology, Hedgehog, Medulloblastoma, Translation (biology), Cell Biology, medicine.disease, Hedgehog signaling pathway, Cell biology, 030104 developmental biology, medicine.anatomical_structure, nervous system, biological phenomena, cell phenomena, and immunity, Signal Transduction, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed60b6295e9a3bc4318bf7043f4a0a60Test
https://doi.org/10.1016/j.devcel.2017.12.008Test -
8
المؤلفون: Frédéric Charron
المصدر: PLoS Genetics
PLoS Genetics, Vol 11, Iss 9, p e1005441 (2015)مصطلحات موضوعية: Cancer Research, Cell signaling, lcsh:QH426-470, Endosome, Endocytic cycle, Nerve Tissue Proteins, Biology, Endocytosis, Retinal ganglion, Genetics, Animals, Receptors, Immunologic, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Body Patterning, Slit, Axons, Cell biology, Intracellular signal transduction, lcsh:Genetics, Perspective, Axon guidance, Drosophila, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3c746a87513b4711ccab040036560fTest
https://pubmed.ncbi.nlm.nih.gov/26334304Test -
9
المؤلفون: Steves Morin, Benjamin L. Allen, Dominique Laniel, Robert S. Krauss, Frédéric Mille, Martin Lévesque, Andrew P. McMahon, Frédéric Charron, Brian C. Wilkes, Luisa Izzi
المصدر: Developmental Cell. 20(6):788-801
مصطلحات موضوعية: Patched Receptors, Patched, Fluorescent Antibody Technique, Cell Cycle Proteins, Receptors, Cell Surface, Biology, GPI-Linked Proteins, Article, General Biochemistry, Genetics and Molecular Biology, Immunoenzyme Techniques, Mice, Cerebellum, Animals, Hedgehog Proteins, Receptor, Molecular Biology, Hedgehog, Cell Proliferation, Mice, Knockout, Neurons, Cell growth, Stem Cells, Cell Biology, Ligand (biochemistry), Molecular biology, Mice, Inbred C57BL, Patched-1 Receptor, PTCH1, Immunoglobulin G, Signal transduction, Cell Adhesion Molecules, Signal Transduction, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a69ce14377d9ae2745cbabd039c7a884Test
-
10
المؤلفون: Amy L. Altick, Thomas Kidd, W. Todd Farmer, J.P. Dugan, Grant S. Mastick, Frédéric Charron, Hikmet Feyza Nural
المصدر: Development. 135:3643-3653
مصطلحات موضوعية: Kruppel-Like Transcription Factors, Nerve Tissue Proteins, Chick Embryo, Zinc Finger Protein Gli2, Biology, Article, Animals, Genetically Modified, Mice, ROBO1, SLIT1, SLIT2, medicine, Animals, Hedgehog Proteins, Receptors, Immunologic, Axon, Molecular Biology, Floor plate, Brain, Gene Expression Regulation, Developmental, Anatomy, Spinal cord, Slit, Axons, Slit-Robo, medicine.anatomical_structure, Mutation, Intercellular Signaling Peptides and Proteins, Signal Transduction, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fe5d49deeb0c1d53e94821e185555c1Test
https://doi.org/10.1242/dev.023325Test