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SHANK3 encodes scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+inhibitory neurons – the key players in generation of sensory gamma oscillations, such as 40-Hz auditory st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9429fa98e06cc6d90b96c7e011d2f1a0
Autor:
Shnaider TA; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Khabarova AA; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Morozova KN; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia.; Department of Natural Sciences, Novosibirsk State University, Novosibirsk 630090, Russia., Yunusova AM; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Yakovleva SA; Department of Natural Sciences, Novosibirsk State University, Novosibirsk 630090, Russia., Chvileva AS; Department of Natural Sciences, Novosibirsk State University, Novosibirsk 630090, Russia., Wolf ER; Department of Natural Sciences, Novosibirsk State University, Novosibirsk 630090, Russia., Kiseleva EV; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Grigor'eva EV; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Voinova VY; Clinical Research Institute of Pediatrics Named after Acad. Y.E. Veltischev, Moscow 125412, Russia.; The Mental Health Research Center, Moscow 115522, Russia., Lagarkova MA; Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, Moscow 119435, Russia., Pomerantseva EA; Center for Genetics and Reproductive Medicine 'GENETICO', Moscow 119333, Russia., Musatova EV; Center for Genetics and Reproductive Medicine 'GENETICO', Moscow 119333, Russia., Smirnov AV; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia., Smirnova AV; Clinical Research Institute of Pediatrics Named after Acad. Y.E. Veltischev, Moscow 125412, Russia., Stoklitskaya DS; Center for Genetics and Reproductive Medicine 'GENETICO', Moscow 119333, Russia., Arefieva TI; National Medical Research Centre of Cardiology Named after Academician E. I. Chazov., Moscow 121552, Russia., Larina DA; Clinical Research Institute of Pediatrics Named after Acad. Y.E. Veltischev, Moscow 125412, Russia., Nikitina TV; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk 634050, Russia., Pristyazhnyuk IE; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia.
Publikováno v:
Cells [Cells] 2023 Nov 25; Vol. 12 (23). Date of Electronic Publication: 2023 Nov 25.
Autor:
Glotov OS; Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, 199034 Saint-Petersburg, Russia.; Department of Experimental Medical Virology, Molecular Genetics and Biobanking of Pediatric Research and Clinical Center for Infectious Diseases, 197022 Saint-Petersburg, Russia., Savostyanov KV; National Medical Research Center of Children Health, 119991 Moscow, Russia., Nagornova TS; Research Center for Medical Genetics, 115478 Moscow, Russia., Chernov AN; Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, 199034 Saint-Petersburg, Russia.; Bioenergetics Department of Life Sciences, The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel.; Department of General Pathology and Pathological Physiology, Institute of Experimental Medicine, 197376 Saint-Petersburg, Russia., Fedyakov MA; CerbaLab Ltd., 199106 Saint-Petersburg, Russia.; City Hospital No. 40, St.-Petersburg, 9 Borisova Str., Sestrorezk, 197706 Saint-Petersburg, Russia., Raspopova AN; CerbaLab Ltd., 199106 Saint-Petersburg, Russia., Krasnoukhov KN; CerbaLab Ltd., 199106 Saint-Petersburg, Russia., Danilov LG; CerbaLab Ltd., 199106 Saint-Petersburg, Russia.; Department of Genetics and Biotechnology, Saint-Petersburg State University, 199034 Saint-Petersburg, Russia., Moiseeva NV; National Medical Research Center of Children Health, 119991 Moscow, Russia., Kalinin RS; Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, 199034 Saint-Petersburg, Russia.; Department of Experimental Medical Virology, Molecular Genetics and Biobanking of Pediatric Research and Clinical Center for Infectious Diseases, 197022 Saint-Petersburg, Russia., Tsai VV; Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, 199034 Saint-Petersburg, Russia.; Department of Experimental Medical Virology, Molecular Genetics and Biobanking of Pediatric Research and Clinical Center for Infectious Diseases, 197022 Saint-Petersburg, Russia.; CerbaLab Ltd., 199106 Saint-Petersburg, Russia., Eismont YA; Department of Experimental Medical Virology, Molecular Genetics and Biobanking of Pediatric Research and Clinical Center for Infectious Diseases, 197022 Saint-Petersburg, Russia.; CerbaLab Ltd., 199106 Saint-Petersburg, Russia., Voinova VY; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 117997 Moscow, Russia., Vitebskaya AV; Department of Children's Diseases of N.F. Filatov Clinical Institute for Children's Health, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia., Gurkina EY; Children's Rehabilitation Clinic Almazov National Medical Research Centre, 197341 Saint-Petersburg, Russia., Kuzenkova LM; National Medical Research Center of Children Health, 119991 Moscow, Russia.; Department of Children's Diseases of N.F. Filatov Clinical Institute for Children's Health, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia., Sosnina IB; Saint-Petersburg State Budgetary Healthcare Institution 'Consulting and Diagnostic Center for Children', 192289 Saint-Petersburg, Russia., Pushkov AA; National Medical Research Center of Children Health, 119991 Moscow, Russia., Zhanin IS; National Medical Research Center of Children Health, 119991 Moscow, Russia., Zakharova EY; Research Center for Medical Genetics, 115478 Moscow, Russia.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Oct 26; Vol. 23 (21). Date of Electronic Publication: 2022 Oct 26.
Autor:
van der Knoop MM; Department of Child Neurology, Sophia Children's Hospital, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Fukata Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi 444-8585, Japan., van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Karimiani EG; Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran.; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University, London SW17 0RE, UK., Lehesjoki AE; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland., Muona M; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland, 00100 Helsinki, Finland.; Blueprint Genetics, 02150 Espoo, Finland., Paetau A; Department of Pathology, Medicum, University of Helsinki, 00100 Helsinki, Finland., Miyazaki Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi 444-8585, Japan., Hirano Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo, Tokyo 113-8655, Japan., Selim L; Division of Neurology and Metabolism, Kasr Al Ainy School of Medicine, Cairo University Children Hospital, Cairo, Egypt., de França M; Department of Morphology and Genetics, Clinical Center of Medical Genetics Federal, University of São Paulo, São Paulo, Brazil., Fock RA; Department of Morphology and Genetics, Clinical Center of Medical Genetics Federal, University of São Paulo, São Paulo, Brazil., Beetz C; Centogene GmbH, 18055 Rostock, Germany., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands., Eaton AJ; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada., Morneau-Jacob FD; Division of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada., Sagi-Dain L; Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of Technology, Genetics Institute, Carmel Medical Center, Haifa, Israel., Shemer-Meiri L; Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel., Peleg A; Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of Technology, Genetics Institute, Carmel Medical Center, Haifa, Israel., Haddad-Halloun J; Department of Biology, Technion-Israel Institute of Technology, Haifa 3200003, Israel., Kamphuis DJ; Department of Neurology, Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, 2300 RA Leiden, The Netherlands., Kurul SH; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey.; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, UK., Lochmüller H; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Spranger S; Praxis für Humangenetik, Klinikum Bremen-Mitte, Bremen 28209, Germany., Overberg D; Department of Pediatrics, Klinikum Bremen-Mitte, Bremen 28205, Germany., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA., Rad A; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen 72076, Germany., Vona B; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen 72076, Germany., Abdulwahad F; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Maddirevula S; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Povolotskaya IS; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow, Russia., Voinova VY; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow, Russia.; Mental Health Research Center, Moscow 107076, Russia., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Alkuraya FS; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA., Alfadhel M; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen 72076, Germany., Striano P; IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Severino M; IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Fukata M; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi 444-8585, Japan., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Jul 29; Vol. 145 (7), pp. 2301-2312.
Autor:
Gridina M; Institute of Cytology and Genetics SB RAS, Lavrentjeva ave 10, Novosibirsk, Russia., Mozheiko E; Institute of Cytology and Genetics SB RAS, Lavrentjeva ave 10, Novosibirsk, Russia., Valeev E; Institute of Cytology and Genetics SB RAS, Lavrentjeva ave 10, Novosibirsk, Russia.; Novosibirsk State University, Pirogova str., 2, Novosibirsk, Russia., Nazarenko LP; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Kooperativny Str, 5, Tomsk, Russia., Lopatkina ME; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Kooperativny Str, 5, Tomsk, Russia., Markova ZG; Research Centre for Medical Genetics, Moskvorechie str., 1, Moscow, Russia., Yablonskaya MI; Clinical Research Institute of Pediatrics Named After Acad. Y.E. Veltischev, Moscow, Russia., Voinova VY; Clinical Research Institute of Pediatrics Named After Acad. Y.E. Veltischev, Moscow, Russia., Shilova NV; Research Centre for Medical Genetics, Moskvorechie str., 1, Moscow, Russia., Lebedev IN; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Kooperativny Str, 5, Tomsk, Russia., Fishman V; Institute of Cytology and Genetics SB RAS, Lavrentjeva ave 10, Novosibirsk, Russia. minja-f@ya.ru.; Novosibirsk State University, Pirogova str., 2, Novosibirsk, Russia. minja-f@ya.ru.
Publikováno v:
Epigenetics & chromatin [Epigenetics Chromatin] 2021 Mar 20; Vol. 14 (1), pp. 15. Date of Electronic Publication: 2021 Mar 20.
Autor:
Neklyudova AK; Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, 117485 Moscow, Russia., Portnova GV; Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, 117485 Moscow, Russia., Rebreikina AB; Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, 117485 Moscow, Russia., Voinova VY; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia.; Mental Health Research Center, 117152 Moscow, Russia., Vorsanova SG; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia.; Mental Health Research Center, 117152 Moscow, Russia., Iourov IY; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia.; Mental Health Research Center, 117152 Moscow, Russia., Sysoeva OV; Laboratory of Human Higher Nervous Activity, Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, 117485 Moscow, Russia.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2021 Feb 14; Vol. 22 (4). Date of Electronic Publication: 2021 Feb 14.
Autor:
Connaughton DM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Nephrology, Department of Medicine, University Hospital - London Health Sciences Centre, Schulich School of Medicine & Dentistry, Western University, 339 Windermere Road, London, ON N6A 5A5, Canada., Dai R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China., Owen DJ; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Marquez J; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Mann N; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Graham-Paquin AL; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada., Nakayama M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Coyaud E; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France., Laurent EMN; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France., St-Germain JR; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada., Blok LS; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands; Human Genetics Department, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands., Vino A; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands., Klämbt V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Deutsch K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Wu CW; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kause F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Ottlewski I; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Buerger F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Onuchic-Whitford AC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Youying M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kolb A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Salmanullah D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Chen E; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., van der Ven AT; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Rao J; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China., Ityel H; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Seltzsam S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Rieke JM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Chen J; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Vivante A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Tel Aviv University, Faculty of Medicine, Tel Aviv-Yafo 6997801, Israel., Hwang DY; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kohl S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Dworschak GC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hermle T; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Alders M; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 Amsterdam, Netherlands., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany., Bauer SB; Department of Urology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Baum MA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Brilstra EH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Challman TD; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA., Zyskind J; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA., Costin CE; Department of Clinical Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH 44308, USA., Dipple KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA., Duijkers FA; Department of Clinical Genetics, University of Amsterdam, 1012 WX Amsterdam, the Netherlands., Ferguson M; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA., Fitzpatrick DR; MRC Institute of Genetics & Molecular Medicine, Royal Hospital for Sick Children, The University of Edinburgh, 2XU, Crewe Rd S, Edinburgh EH4 2XU, UK., Fick R; Mary Bridge Childrens Hospital, 316 Martin Luther King JR Way, Tacoma, WA 98405, USA., Glass IA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA., Hulick PJ; Center for Medical Genetics, NorthShore University HealthSystem, 1000 Central Street, Suite 610, Evanston, IL 60201, USA., Kline AD; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany; Swiss Epilepsy Center, Klinik Lengg, Bleulerstrasse 60, 8000 Zürich, Switzerland., Kumar S; Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, Tamil Salai, Egmore, Chennai, Tamil Nadu 600008, India., Lu W; Renal Section, Department of Medicine, Boston University Medical Center, 650 Albany Street, Boston, MA 02118, USA., Marco EJ; Cortica Healthcare, 4000 Civic Center Drive, Ste 100, San Rafael, CA 94939, USA., Wentzensen IM; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany., Povolotskaya IS; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia., Savatt JM; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA., Shcherbakova NV; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia., Senguttuvan P; Department of Pediatric Nephrology, Dr. Mehta's Multi-Specialty Hospital, No.2, Mc Nichols Rd, Chetpet, Chennai, Tamil Nadu 600031, India., Squire AE; Seattle Children's Hospital, Department of Genetic Medicine, 4800 Sand Point Way NE, Seattle, WA 98105, USA., Stein DR; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2401 Gillham Rd, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, 5000 Holmes St, Kansas City, MO 64110, USA., Voinova VY; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia., Somers MJG; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Ferguson MA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Traum AZ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Daouk GH; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Daga A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Rodig NM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Terhal PA; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Eid LA; Pediatric Nephrology Department, Dubai Hospital, Dubai, United Arab Emirates., Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia., Rasouly HM; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Lim TY; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Ahram DF; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Gharavi AG; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Reutter HM; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany; Section of Neonatology and Pediatric Intensive Care, Clinic for Pediatrics, University Hospital Bonn, Adenauerallee 119, 53313 Bonn, Germany., Rehm HL; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA., Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA., Laricchia KM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA., Lifton RP; The Rockefeller University, 1230 York Ave, New York, NY 10065, USA., Xu H; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China., Mane SM; Department of Genetics, Yale University School of Medicine, 333 Cedar St, New Haven, CT 06510, USA., Sanna-Cherchi S; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA., Sharrocks AD; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK., Raught B; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands., Bouchard M; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada., Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Oct 01; Vol. 107 (4), pp. 727-742. Date of Electronic Publication: 2020 Sep 04.
Autor:
Giugliani R; Hospital de Clinicas de Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil., Vieira TA; Hospital de Clinicas de Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil., Carvalho CG; Hospital de Clinicas de Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil., Muñoz-Rojas MV; Hospital de Clinicas de Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil., Semyachkina AN; Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Moscow, Russia., Voinova VY; Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Moscow, Russia., Richards S; Sanofi Genzyme, Cambridge, MA, USA., Cox GF; Sanofi Genzyme, Cambridge, MA, USA., Xue Y; Sanofi Genzyme, Cambridge, MA, USA.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2017 Jan 13; Vol. 10, pp. 61-66. Date of Electronic Publication: 2017 Jan 13 (Print Publication: 2017).
Autor:
Iourov IY; Mental Health Research Center, 117152 Moscow, Russia ; Separated Structural Unit 'Clinical Research Institute of Pediatrics', Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia ; Department of Medical Genetics, Russian Medical Academy of Postgraduate Education, Moscow, 123995 Russia., Vorsanova SG; Mental Health Research Center, 117152 Moscow, Russia ; Separated Structural Unit 'Clinical Research Institute of Pediatrics', Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia ; Moscow State University of Psychology and Education, Moscow, 127051 Russia., Voinova VY; Mental Health Research Center, 117152 Moscow, Russia ; Separated Structural Unit 'Clinical Research Institute of Pediatrics', Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia ; Moscow State University of Psychology and Education, Moscow, 127051 Russia., Yurov YB; Mental Health Research Center, 117152 Moscow, Russia ; Separated Structural Unit 'Clinical Research Institute of Pediatrics', Russian National Research Medical University, Ministry of Health of Russian Federation, 125412 Moscow, Russia ; Moscow State University of Psychology and Education, Moscow, 127051 Russia.
Publikováno v:
Molecular cytogenetics [Mol Cytogenet] 2015 Oct 31; Vol. 8, pp. 82. Date of Electronic Publication: 2015 Oct 31 (Print Publication: 2015).
Autor:
Voinova VY; Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow., Vorsanova SG; Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow., Yurov YB; Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow., Kolotiy AD; Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics., Davidova YI; Mental Health Research Center Russian Academy of Sciences, Moscow., Demidova IA; Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow., Novikov PV; Mental Health Research Center Russian Academy of Sciences, Moscow., Iourov IY; Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Moscow State University of Psychology and Education, Moscow ,Russian Medical Academy of Postgraduate Education, Moscow.
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2015; Vol. 115 (10), pp. 10-16.