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Articles, 3 registres trobats
Articles 3 registres trobats  
1.
11 p, 709.0 KB Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients / Bryant, Laura (Children's Hospital of Philadelphia (Pennsilvània)) ; Li, Dong (Children's Hospital of Philadelphia (Pennsilvània)) ; Cox, Samuel G. (University of Southern California, CA 90033, USA) ; Marchione, Dylan (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Joiner, Evan F. (Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA) ; Wilson, Khadija (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Janssen, Kevin (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Lee, Pearl (Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; March, Michael E. (Children's Hospital of Philadelphia (Pennsilvània)) ; Nair, Divya (Children's Hospital of Philadelphia (Pennsilvània)) ; Sherr, Elliott (Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA) ; Fregeau, Brieana (Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA) ; Wierenga, Klaas J. (Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA) ; Wadley, Alexandrea (Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA) ; Mancini, Grazia M. S. (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ; Powell-Hamilton, Nina (Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA) ; van de Kamp, Jiddeke (Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands) ; Grebe, Theresa (Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA) ; Dean, John (Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK) ; Ross, Alison (Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK) ; Crawford, Heather P. (Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA) ; Powis, Zoe (Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ; Willing, Marcia C. (Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA) ; Manwaring, Linda (Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA) ; Schot, Rachel (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ; Nava, Caroline (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ; Afenjar, Alexandra (Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France) ; Lessel, Davor (Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany) ; Wagner, Matias (Institut für Humangenetik, Technische Universität München, Munich, Germany) ; Klopstock, Thomas (Munich Cluster for Systems Neurology, SyNergy, Munich, Germany) ; Winkelmann, Juliane (Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany) ; Catarino, Claudia B. (Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany) ; Retterer, Kyle (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ; Schuette, Jane L. (Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA) ; Innis, Jeffrey W. (Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA) ; Pizzino, Amy (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ; Lüttgen, Sabine (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ; Denecke, Jonas (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ; Strom, Tim M. (Institut für Humangenetik, Technische Universität München, Munich, Germany) ; Monaghan, Kristin G. (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ; Yuan, Zuo-Fei (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Dubbs, Holly (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ; Bend, Renee (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Lee, Jennifer A. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Lyons, Michael J. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ; Günthner, Roman (Technische Universität München. Institut für Humangenetik) ; Reutter, Heiko (Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany) ; Keren, Boris (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ; Radtke, Kelly (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ; Sherbini, Omar (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ; Mrokse, Cameron (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ; Helbig, Katherine L. (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ; Odent, Sylvie (CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France) ; Cogne, Benjamin (Université de Nantes) ; Mercier, Sandra (Université de Nantes) ; Bezieau, Stephane (Université de Nantes) ; Besnard, Thomas (Université de Nantes) ; Kury, Sebastien (Université de Nantes) ; Redon, Richard (Université de Nantes) ; Reinson, Karit (Institute of Clinical Medicine, University of Tartu, Tartu, Estonia) ; Wojcik, Monica H. (Broad Institute, Cambridge, MA 02142, USA) ; Õunap, Katrin (Institute of Clinical Medicine, University of Tartu, Tartu, Estonia) ; Ilves, Pilvi (Tartu University Hospital (Tartu, Estònia)) ; Innes, A. Micheil (Alberta Children's Hospital Research Institute) ; Kernohan, Kristin D. (Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada) ; Costain, Gregory (Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada) ; Meyn, M. Stephen (The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA) ; Chitayat, David (The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada) ; Zackai, Elaine (Children's Hospital of Philadelphia (Pennsilvània)) ; Lehman, Anna (Department of Medical Genetics, University of British Columbia, Vancouver, Canada) ; Kitson, Hilary (Department of Pediatrics, University of British Columbia, Vancouver, Canada) ; Martin, Martin G. (Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Martinez-Agosto, Julian A. (Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Nelson, Stan F. (Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Palmer, Christina G. S. (Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Papp, Jeanette C. (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Parker, Neil H. (David Geffen School of Medicine, Los Angeles, CA 90095, USA) ; Sinsheimer, Janet S. (Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Vilain, Eric (Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA) ; Wan, Jijun (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Yoon, Amanda J. (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Zheng, Allison (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Brimble, Elise (Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA) ; Ferrero, Giovanni Battista (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ; Radio, Francesca Clementina (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ; Carli, Diana (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ; Barresi, Sabina (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ; Brusco, Alfredo (Department of Medical Sciences, University of Torino, Turin, Italy) ; Tartaglia, Marco (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ; Thomas, Jennifer Muncy (Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA) ; Umana, Luis (Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA) ; Weiss, Marjan M. (Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands) ; Gotway, Garrett (Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA) ; Stuurman, K. E. (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ; Thompson, Michelle L. (HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA) ; McWalter, Kirsty (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ; Stumpel, Constance T. R. M. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ; Stevens, Servi J. C. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ; Stegmann, Alexander P. A. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ; Tveten, Kristian (Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway) ; Vøllo, Arve (Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway) ; Prescott, Trine (Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway) ; Fagerberg, Christina (Odense University Hospital (Dinamarca)) ; Laulund, Lone Walentin (Odense University Hospital (Dinamarca)) ; Larsen, Martin J. (Odense University Hospital (Dinamarca)) ; Byler, Melissa (SUNY Upstate Medical University, Syracuse, NY 13210, USA) ; Lebel, Robert Roger (SUNY Upstate Medical University, Syracuse, NY 13210, USA) ; Hurst, Anna C. (University of Alabama at Birmingham, Birmingham, AL 35294, USA) ; Dean, Joy (University of Alabama at Birmingham, Birmingham, AL 35294, USA) ; Schrier Vergano, Samantha A. (Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA) ; Norman, Jennifer (INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA) ; Mercimek-Andrews, Saadet (Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada) ; Neira, Juanita (Department of Human Genetics, Emory University, Atlanta, GA 30322, USA) ; Van Allen, Margot I. (Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada) ; Longo, Nicola (Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA) ; Sellars, Elizabeth (University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA) ; Louie, Raymond J. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Cathey, Sara S. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Brokamp, Elly (Vanderbilt University, Nashville, TN 37203, USA) ; Heron, Delphine (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ; Snyder, Molly (Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA) ; Vanderver, Adeline (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ; Simon, Celeste (Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Crump, J. Gage (Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA) ; Chung, Wendy (Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA) ; Garcia, Benjamin (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Hakonarson, Hakon (Children's Hospital of Philadelphia (Pennsilvània)) ; Bhoj, Elizabeth J. (Children's Hospital of Philadelphia (Pennsilvània)) ; Universitat Autònoma de Barcelona
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome. Although somatic mutations in Histone 3. 3 (H3. 3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. [...]
2020 - 10.1126/sciadv.abc9207
Science advances, Vol. 6 (december 2020)  
2.
16 p, 3.4 MB AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders / Salpietro, Vincenzo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Dixon, Christine L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Guo, Hui (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bello, Oscar D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ; Efthymiou, Stephanie (University College London) ; Maroofian, Reza (UCL Queen Square Institute of Neurology (Regne Unit)) ; Heimer, Gali (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Burglen, Lydie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ; Valence, Stephanie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ; Torti, Erin (GeneDx) ; Hacke, Moritz (Biochemistry Center. Heidelberg University) ; Rankin, Julia (Royal Devon and Exeter NHS Foundation Trust) ; Tariq, Huma (UCL Queen Square Institute of Neurology (Regne Unit)) ; Colin, Estelle (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Procaccio, Vincent (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Striano, Pasquale (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Mankad, Kshitij (Great Ormond Street Hospital for Children (Londres)) ; Lieb, Andreas (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Chen, Sharon (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Pisani, Laura (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Bettencourt, Conceição (UCL Institute of Neurology (Regne Unit)) ; Männikkö, Roope (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manole, Andreea (UCL Queen Square Institute of Neurology (Regne Unit)) ; Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Grosso, Enrico (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Ferrero, Giovanni Battista (Department of Public Health and Pediatrics. University of Torino) ; Armstrong, Judith (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gueden, Sophie (Unit of Neuropediatrics. University Hospital) ; Bar-Yosef, Omer (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Tzadok, Michal (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Monaghan, Kristin G. (GeneDx) ; Santiago-Sim, Teresa (GeneDx) ; Person, Richard E. (GeneDx) ; Cho, Megan T. (GeneDx) ; Willaert, Rebecca (GeneDx) ; Yoo, Kristin (Department of Biomedical Sciences. Seoul National University) ; Chae, Jong-Hee (Department of Pediatrics. Seoul National University) ; Quan, Yingting (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wu, Huidan (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wang, Tianyun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bernier, Raphael A. (Department of Psychiatry. University of Washington) ; Xia, Kun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Blesson, Alyssa (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Jain, Mahim (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Motazacker, Mohammad M. (Department of Clinical Genetics. University of Amsterdam) ; Jaeger, Bregje (Department of Pediatric Neurology. Amsterdam UMC) ; Schneider, Amy L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Boysen, Katja (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Muir, Alison M. (Department of Pediatrics. University of Washington) ; Myers, Candance T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ; Gavrilova, Ralitza H. (Department of Clinical Genomics. Mayo Clinic) ; Gunderson, Lauren (Department of Clinical Genomics. Mayo Clinic) ; Schultz-Rogers, Laura (Department of Clinical Genomics. Mayo Clinic) ; Klee, Eric W. (Department of Clinical Genomics. Mayo Clinic) ; Dyment, David (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ; Osmond, Matthew (Genome Québec Innovation Center) ; Parellada, Mara (Hospital General Universitario Gregorio Marañón) ; Llorente, Cloe (Hospital General Universitario Gregorio Marañón) ; González-Peñas, Javier (Hospital General Universitario Gregorio Marañón) ; Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ; Van Haeringen, Arie (Department of Clinical Genetics. Leiden University Medical Center) ; Ruivenkamp, Claudia (Department of Clinical Genetics. Leiden University Medical Center) ; Nava, Caroline (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Heron, Delphine (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Nardello, Rosaria (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ; Iacomino, Michele (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Minetti, Carlo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Skabar, Aldo (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Fabretto, Antonella (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Hanna, Michael (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bugiardini, Enrico (UCL Queen Square Institute of Neurology (Regne Unit)) ; Hostettler, Isabel Charlotte (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Callaghan, Benjamin (UCL Queen Square Institute of Neurology (Regne Unit)) ; Khan, Alaa (UCL Queen Square Institute of Neurology (Regne Unit)) ; Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Connor, Emer (UCL Queen Square Institute of Neurology (Regne Unit)) ; Yau, Wai Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bourinaris, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ; Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ; Madej, Monika (UCL Queen Square Institute of Neurology (Regne Unit)) ; Diana, Maria C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Vari, Maria S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Pedemonte, Marina (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Bruno, Claudio (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Balagura, Ganna (University of Genoa. Department of Neurosciences) ; Scala, Marcello (University of Genoa. Department of Neurosciences) ; Fiorillo, Chiara (University of Genoa. Department of Neurosciences) ; Nobili, Lino (University of Genoa. Department of Neurosciences) ; Malintan, Nancy T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Zanetti, Maria N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Krishnakumar, Shyam S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Lignani, Gabriele (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Jepson, James E. C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Broda, Paolo (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Baldassari, Simona (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Rossi, Pia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Fruscione, Floriana (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Madia, Francesca (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Traverso, Monica (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; De-Marco, Patrizia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ; Kriouile, Yamna (Children's Hospital of Rabat. University of Rabat) ; El-Khorassani, Mohamed (Children's Hospital of Rabat. University of Rabat) ; Karashova, Blagovesta (Department of Paediatrics. Medical University of Sofia) ; Avdjieva, Daniela (Department of Paediatrics. Medical University of Sofia) ; Kathom, Hadil (Department of Paediatrics. Medical University of Sofia) ; Tincheva, Radka (Department of Paediatrics. Medical University of Sofia) ; Van-Maldergem, Lionel (Centre of Human Genetics. University Hospital Liege) ; Nachbauer, Wolfgang (Department of Neurology. Medical University Innsbruck) ; Boesch, Sylvia (Department of Neurology. Medical University Innsbruck) ; Gagliano, Antonella (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ; Amadori, Elisabetta (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ; Goraya, Jatinder S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ; Sultan, Tipu (Department of Paediatric Neurology. Children's Hospital of Lahore) ; Kirmani, Salman (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ; Ibrahim, Shahnaz (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Jan, Farida (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Mine, Jun (Department of Pediatrics. Shimane University School of Medicine) ; Banu, Selina (Institute of Child Health and Shishu Shastho Foundation Hospital) ; Veggiotti, Pierangelo (Vittore Buzzi Children's Hospital) ; Zuccotti, Gian V. (Vittore Buzzi Children's Hospital) ; Ferrari, Michel D.. (Leiden University Medical Center) ; Van Den Maagdenberg, Arn M. J. (Leiden University Medical Center) ; Verrotti, Alberto (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ; Marseglia, Gian Luigi (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Savasta, Salvatore (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Soler, Miguel A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ; Scuderi, Carmela (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Borgione, Eugenia (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Chimenz, Roberto (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Gitto, Eloisa (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Dipasquale, Valeria (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Sallemi, Alessia (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Fusco, Monica (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cuppari, Caterina (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cutrupi, Maria C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Ruggieri, Martino (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ; Cama, Armando (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Capra, Valeria (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Mencacci, Niccolò Emanuele (Department of Neurology. Northwestern University Feinberg School of Medicine) ; Boles, Richard (Courtagen Life Sciences) ; Gupta, Neerja (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Kabra, Madhulika (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Papacostas, Savvas (The Cyprus Institute of Neurology and Genetics) ; Zamba-Papanicolaou, Eleni (The Cyprus Institute of Neurology and Genetics) ; Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ; Maqbool, Shazia (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ; Rana, Nuzhat (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ; Atawneh, Osama (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ; Lim, Shen Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ; Shaikh, Mohmad Farooq (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ; Koutsis, George (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Breza, Marianthi (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Coviello, Domenico (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ; Dauvilliers, Yves (University Hospital of Montpellier (França)) ; AlKhawaja, Issam (Albashir University Hospital) ; AlKhawaja, Mariam (Prince Hamzah Hospital. Ministry of Health) ; Al-Mutairi, Fuad (King Saud University) ; Stojkovic, Tanya (Institute of Myology. Hôpital La Pitié Salpêtrière) ; Ferrucci, Veronica (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Zollo, Massimo (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Alkuraya, Fowzan S (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Kinali, Maria (The Portland Hospital) ; Sherifa, Hamed (Assiut University Hospital) ; Benrhouma, Hanene (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Turki, Ilhem B. Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Tazir, Meriem (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ; Obeid, Makram (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ; Bakhtadze, Sophia (Department of Child Neurology. Tbilisi State Medical University) ; Saadi, Marianthi W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ; Zaki, Maha (Human Genetics and Genome Research Division. National Research Centre) ; Triki, Chahnez C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ; Benfenati, Fabio (Istituto Italiano di Tecnologia) ; Gustincich, Stefano (Istituto Italiano di Tecnologia) ; Kara, Majdi (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ; Belcastro, Vincenzo (Neurology Unit. S. Anna Hospital) ; Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Capovilla, Giuseppe (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ; Karimiani, Ehsan G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ; Salih, Ahmed M. (Medical University of Duhok) ; Okubadejo, Njideka (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Ojo, Oluwadamilola (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oshinaike, Olajumoke O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oguntunde, Olapeju (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Wahab, Kolawole Wasiu (University of Ilorin Teaching Hospital (UITH)) ; Bello, Abiodun H. (University of Ilorin Teaching Hospital (UITH)) ; Abubakar, Sanni (Ahmadu Bello University) ; Obiabo, Yahaya (Delta State University Teaching Hospital) ; Nwazor, Ernest (Federal Medical Centre) ; Ekenze, Oluchi (University of Nigeria Teaching Hospital) ; Williams, Uduak (University of Calabar Teaching Hospital) ; Iyagba, Alagoma (University of Port Harcourt Teaching Hospital) ; Taiwo, Lolade (Babcock University. Ilishan. Remo & Federal Medical Centre) ; Komolafe, Morenikeji (Obafemi Awolowo University Teaching Hospital (OAUTH)) ; Senkevich, Konstantin (Pavlov First Saint Petersburg State Medical University) ; Shashkin, Chingiz (Kazakh National State University) ; Zharkynbekova, Nazira (Shymkent Medical Academy) ; Koneyev, Kairgali (Kazakh National State University) ; Manizha, Ganieva (Avicenna Tajik State Medical University) ; Isrofilov, Maksud (Avicenna Tajik State Medical University) ; Guliyeva, Ulviyya (Mediclub clinic) ; Salayev, Kamran (Azerbaijan State Medical University) ; Khachatryan, Samson G. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ; Rossi, Salvatore (Department of Neurology. Università Cattolica del Sacro Cuore) ; Silvestri, Gabriella (Department of Neurology. Università Cattolica del Sacro Cuore) ; Haridy, Nourelhoda A. (Department of Neurology and Psychiatry. Assuit University Hospital) ; Ramenghi, Luca A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ; Xiromerisiou, Georgia (Department of Neurology. Medical School. University of Thessaly) ; David, Emanuele (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ; Aguennouz, M'hammed (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ; Fidani, Lliana (Department of Biology. Medical School. Aristotle University) ; Spanaki, Cleanthe (Department of Neurology. Medical School. University of Crete) ; Tucci, Arianna (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ; Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ; Chez, Michael (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ; Tsai, Anne (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ; Fassi, Emily (Department of Pediatrics. Washington University School of Medicine) ; Shinawi, Marwan (Department of Pediatrics. Washington University School of Medicine) ; Constantino, John N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ; De Zorzi, Rita (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Kok, Fernando (Mendelics Genomic Analysis) ; Keren, Boris (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Bonneau, Dominique (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Choi, Murim (Department of Biomedical Sciences. Seoul National University) ; Benzeev, Bruria (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Zara, Federico (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Mefford, Heather C. (Department of Pediatrics. University of Washington) ; Scheffer, Ingrid E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Clayton-Smith, Jill (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Rothman, James E. (Department of Cell Biology. Yale University School of Medicine) ; Eichler, Evan E (Howard Hughes Medical Institute. University of Washington) ; Kullmann, Dimitri M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Houlden, Henry (UCL Queen Square Institute of Neurology (Regne Unit)) ; Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 - 10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094  
3.
11 p, 1.2 MB Mutations in TOP3A Cause a Bloom Syndrome-like Disorder / Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ; Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ; Allen, William (Fullerton Genetics Center, Asheville) ; Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ; Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Barakat, Bushra A. Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Barraza-García, Jimena (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ; Cruz-Rojo, Jaime (Hospital Universitario 12 de Octubre (Madrid)) ; Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ; Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ; Jobling, Rebekah (The Hospital for Sick Children) ; Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ; Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ; Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ; Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ; Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ; Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ; Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ; Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ; Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ; Stevens, Paul (Cytogenetics Department, Viapath Analytics) ; Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ; Turner, Lesley (Memorial University of Newfoundland) ; Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ; Wilson, Carolyn (Fullerton Genetics Center) ; Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ; Zahavich, Laura (The Hospital for Sick Children) ; Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ; Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ; Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ; Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ; Heath, Karen E. (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; GOSgene UCL Great Ormond Street Institute of Child Health
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231  

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