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Wyszukujesz frazę ""intellectual disability"" wg kryterium: Temat


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Tytuł :
Incidence of clinical fractures: A 7-year follow-up study in institutionalized adults with epilepsy and intellectual disability.
Autorzy :
Berkvens JJL; Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands. Electronic address: .
Wyers CE; Department of Internal Medicine, VieCuri Medical Center, Venlo, The Netherlands; NUTRIM School of Nutrition and Translational Research in Metabolism, Department of Internal Medicine, Maastricht University Medical Center, Maastricht, The Netherlands.
Mergler S; Medical Department ASVZ, Care and Service Center for People with Intellectual Disabilities, Sliedrecht, The Netherlands; Department of General Practice and Intellectual Disability Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.
Beerhorst K; Department of Neurology, Zuyderland Medical Center, Heerlen, The Netherlands.
Verschuure P; Laboratory for Clinical Chemistry & Pharmacology, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands.
Tan IY; Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands.
Majoie HJM; Department of Neurology, Academic Center for Epileptology Kempenhaeghe and Maastricht University Medical Center, Heeze and Maastricht, The Netherlands; MHeNs School for Mental Health and Neuroscience, Department of Psychiatry and Neuropsychology, Maastricht University Medical Center, Maastricht, The Netherlands; School of Health Professions Education, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.
van den Bergh JPW; Department of Internal Medicine, VieCuri Medical Center, Venlo, The Netherlands; NUTRIM School of Nutrition and Translational Research in Metabolism, Department of Internal Medicine, Maastricht University Medical Center, Maastricht, The Netherlands.
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Źródło :
Seizure [Seizure] 2021 Nov; Vol. 92, pp. 56-61. Date of Electronic Publication: 2021 Aug 18.
Typ publikacji :
Journal Article
MeSH Terms :
Epilepsy*/epidemiology
Intellectual Disability*/complications
Intellectual Disability*/epidemiology
Osteoporotic Fractures*/epidemiology
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bone Density ; Follow-Up Studies ; Humans ; Incidence ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
Screening of dementia indicating signs in adults with intellectual disabilities.
Autorzy :
Arvio M; Department of Neurology, Päijät-Häme Joint Municipal Authority, Hämeenlinna, Finland.; Clinical Genetics, Turku University Hospital, Turku, Finland.; PEDEGO, Oulu University Hospital, Oulu, Finland.; Southwest Special Care Municipal Authority, Paimio, Finland.
Bjelogrlic-Laakso N; Special Services for Developmentally Disabled, Pitkäniemi, Tampere University Hospital, Tampere, Finland.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1463-1467. Date of Electronic Publication: 2021 May 01.
Typ publikacji :
Journal Article
MeSH Terms :
Cognitive Dysfunction*
Dementia*/diagnosis
Dementia*/epidemiology
Down Syndrome*/diagnosis
Down Syndrome*/epidemiology
Intellectual Disability*/diagnosis
Intellectual Disability*/epidemiology
Learning Disabilities*
Adult ; Aged ; Humans
Czasopismo naukowe
Tytuł :
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Autorzy :
Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: .
Ito YA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Chrestian N; Department of Paediatric Neurology, Paediatric Neuromuscular Disorder, Centre Mère Enfant Soleil, Laval University, Quebec City, QC G1V 4G2, Canada; Department of Molecular Medicine, Faculty of Medicine, Neuroscience Laboratory, CHU de Québec Research Center, Laval University, Quebec City, QC G1V 4G2, Canada.
Stanley V; Laboratory for Pediatric Brain Disease, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
Brady L; Neuromuscular and Neurometabolics Division, Department of Pediatrics, McMaster University, Hamilton, ON L8N 3Z5, Canada.
Tarnopolsky M; Neuromuscular and Neurometabolics Division, Department of Pediatrics, McMaster University, Hamilton, ON L8N 3Z5, Canada.
Curry CJ; Genetic Medicine Division, Department of Pediatrics, University of California, San Francisco, Fresno, CA 93701, USA.
Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Mears W; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Derksen A; Child Health and Human Development Program, McGill University Health Centre Research Institute, Montréal, QC H4A 3J1, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, QC H3A 0G4, Canada.
Rioux N; Department of Molecular Medicine, Faculty of Medicine, Neuroscience Laboratory, CHU de Québec Research Center, Laval University, Quebec City, QC G1V 4G2, Canada.
Laflamme N; Department of Molecular Medicine, Faculty of Medicine, Neuroscience Laboratory, CHU de Québec Research Center, Laval University, Quebec City, QC G1V 4G2, Canada.
Hutchison HT; Neurology Division, Department of Pediatrics, University of California, San Francisco, Fresno, CA 93701, USA.
Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12311 Cairo, Egypt.
Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, 54000 Lahore, Pakistan.
Dane AD; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam 1105, the Netherlands.
Gleeson JG; Laboratory for Pediatric Brain Disease, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology and Endocrinology Metabolism, Amsterdam 1105, the Netherlands; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam 1105, the Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam 1105, the Netherlands.
Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Bernard G; Genetic Medicine Division, Department of Pediatrics, University of California, San Francisco, Fresno, CA 93701, USA; Child Health and Human Development Program, McGill University Health Centre Research Institute, Montréal, QC H4A 3J1, Canada; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC H4A 3J1, Canada.
Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: .
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Corporate Authors :
Care4Rare Canada Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 2017-2023. Date of Electronic Publication: 2021 Sep 28.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Cerebral Palsy/*pathology
Intellectual Disability/*pathology
Leukoencephalopathies/*pathology
Monoacylglycerol Lipases/*genetics
Spastic Paraplegia, Hereditary/*pathology
Adolescent ; Adult ; Cerebral Palsy/etiology ; Cerebral Palsy/metabolism ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Intellectual Disability/etiology ; Intellectual Disability/metabolism ; Leukoencephalopathies/etiology ; Leukoencephalopathies/metabolism ; Male ; Monoacylglycerol Lipases/deficiency ; Pedigree ; Phenotype ; Spastic Paraplegia, Hereditary/etiology ; Spastic Paraplegia, Hereditary/metabolism ; Young Adult
Czasopismo naukowe
Tytuł :
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Autorzy :
Richard EM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Marsh APL; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Kaiyrzhanov R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK.
Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Shetty S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane, QLD 4029, Australia.
Nordlie SM; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Guida BS; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Mayo Clinic, Scottsdale, AZ 85259, USA.
Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Norton BY; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Webster RI; Neurology Department, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
Worgan L; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW 2050, Australia.
Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Li J; Department of Computer Science, City University of Hong Kong, Kowloon 999077, Hong Kong.
Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.
Jain M; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Blesson A; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, MD 21211, USA.
Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Abbott MA; University of Massachusetts Medical School - Baystate, Baystate Children's Hospital, Springfield, MA 01107, USA.
Comi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Lenz D; Centre of Child and Adolescent Medicine, Department of Pediatric Neurology and Metabolic Medicine, Heidelberg University Hospital, 69120 Heidelberg, Germany.
Ziegler A; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Kotzaeridou U; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Chassevent A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, New York, NY 11211, USA.
Weiden T; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Jerusalem 9054020, Israel.
Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, 35392 Giessen, Germany.
Zharkinbekova N; Department of Neurology, South Kazakhstan Medical Academy, Shymkent 160001, Kazakhstan.
Turnpenny P; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, EX1 2ED Exeter, UK.
Tucci A; Clinical Pharmacology, William Harvey Research Institute, Charterhouse Square, School of Medicine and Dentistry Queen Mary University of London, London EC1M 6BQ, UK.
Yelton M; Penn State Health Children's Hospital, Hershey, PA 17033, USA.
Horvath R; Department of Clinical Neurosciences, John Van Geest Cambridge Centre for Brain Repair, University of Cambridge School of Clinical Medicine, CB2 0PY Cambridge, UK.
Gungor S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Paediatric Neurology, 44280 Malatya, Turkey.
Hiz S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, 35340 Izmir, Turkey; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey.
Oktay Y; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, 35340 Izmir, Turkey; Department of Medical Biology, Faculty of Medicine, Dokuz Eylul University, 35220 Izmir, Turkey.
Lochmuller H; Children's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Zollino M; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy.
Morleo M; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
Marangi G; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy.
Nigro V; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' 80138 Naples, Italy.
Torella A; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' 80138 Naples, Italy.
Pinelli M; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
Amenta S; Università Cattolica Sacro Cuore, Facoltà di Medicina e Chirurgia, Dipartimento Scienze della Vita e Sanità Pubblica, 00168 Roma, Italy; Fondazione Policlinico A. Gemelli IRCCS, Sezione di Medicina Genomica, 00168 Roma, Italy.
Husain RA; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.
Grossmann B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany.
Rapp M; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany.
Steen C; Department of Paediatric and Adolescent Medicine, St Joseph Hospital, 12101 Berlin, Germany.
Marquardt I; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, 26133 Oldenburg, Germany.
Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany.
Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany.
Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, 26133 Oldenburg, Germany.
Owczarek-Lipska M; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany; Junior Research Group, Genetics of Childhood Brain Malformations, Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.
Neidhardt J; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany; Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany.
Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Mancini C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Claps Sepulveda DJ; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Schnur RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Mancardi MM; Unit of Child Neuropsichiatry, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini, Genoa 16147, Italy.
Kreuder F; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3168, Australia.
Striano P; Pediatric Neurology and Muscular Diseases Unit, IRRCS Istituto Giannina Gaslini, 16148 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy.
Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy; Unit of Medical Genetics, IRRCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
Marks WA; Department of Neurology, Cook Children's Medical Center, Fort Worth, TX 76104, USA; Department of Pediatrics, University of North Texas Health Science Center, Fort Worth, TX 76107, USA.
van Eyk CL; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Webber DL; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Corbett MA; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Harper K; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Berry JG; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
MacLennan AH; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5006, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Salpietro V; Pediatric Neurology and Muscular Diseases Unit, IRRCS Istituto Giannina Gaslini, 16148 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16142 Genoa, Italy.
Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW 2006, Australia.
Kaslin J; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3168, Australia.
Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.
Bilguvar K; Yale Center for Genome Analysis, Yale University, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Munchau A; Institute of Systems Motor Science, University of Lübeck, 23538 Lübeck, Germany.
Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Fahey MC; Department of Paediatrics, Monash University, Melbourne, VIC 3168, Australia.
Maroofian R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK.
Houlden H; Department of Neuromuscular Disorders, Institute of Neurology, University College London, Queen Square, WC1N 3BG London, UK.
Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Mane SM; Yale Center for Genome Analysis, Yale University, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Rad A; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076 Tübingen, Germany.
Vona B; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076 Tübingen, Germany.
Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tuebingen, Germany; Centre for Rare Diseases, University of Tübingen, 72074 Tuebingen, Germany.
Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, Munich Clinic, Schwabing Hospital and Technical University of Munich, School of Medicine, 80804 Munich, Germany.
Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, New York, NY 11211, USA.
Riazuddin S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA. Electronic address: .
Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Departments of Child Health, Neurology, Cellular, and Molecular Medicine and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 2006-2016.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Genetic Variation*
Cerebral Palsy/*pathology
Epilepsy/*pathology
Hearing Loss/*pathology
Intellectual Disability/*pathology
Muscle Spasticity/*pathology
ATPases Associated with Diverse Cellular Activities/genetics ; Adolescent ; Adult ; Alleles ; Animals ; Cerebral Palsy/etiology ; Cerebral Palsy/metabolism ; Child, Preschool ; Epilepsy/etiology ; Epilepsy/metabolism ; Female ; Hearing Loss/etiology ; Hearing Loss/metabolism ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/etiology ; Intellectual Disability/metabolism ; Male ; Muscle Spasticity/etiology ; Muscle Spasticity/metabolism ; Rats ; Young Adult
Czasopismo naukowe
Tytuł :
EMDR therapy for PTSD symptoms in patients with mild intellectual disability or borderline intellectual functioning and comorbid psychotic disorder: A case series.
Autorzy :
Penninx Quevedo R; GGZ Oost-Brabant, Helmond, the Netherlands. Electronic address: .
de Jongh A; Academic Centre for Dentistry Amsterdam (ACTA), University of Amsterdam and VU University Amsterdam, the Netherlands; Research Department PSYTREC, Bilthoven, the Netherlands; School of Health Sciences, Salford University, Manchester, United Kingdom; Institute of Health and Society, University of Worcester, United Kingdom; School of Psychology, Queen's University, Belfast, Northern Ireland, United Kingdom.
Bouwmeester S; Tilburg University, Tilburg, the Netherlands.
Didden R; Behavioural Science Institute, Radboud University, Nijmegen, the Netherlands; Trajectum, Zwolle, the Netherlands; GGZ Oost-Brabant, Centre for Mild Intellectual Disability and Psychiatry, Boekel, The Netherlands.
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Źródło :
Research in developmental disabilities [Res Dev Disabil] 2021 Oct; Vol. 117, pp. 104044. Date of Electronic Publication: 2021 Aug 23.
Typ publikacji :
Journal Article
MeSH Terms :
Eye Movement Desensitization Reprocessing*
Intellectual Disability*/complications
Intellectual Disability*/therapy
Learning Disabilities*
Psychotic Disorders*/therapy
Stress Disorders, Post-Traumatic*/therapy
Humans ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Antipsychotics withdrawal in adults with intellectual disability and challenging behaviour: study protocol for a multicentre double-blind placebo-controlled randomised trial.
Autorzy :
Beumer S; Department of General Practice, Chair of Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, P.O. Box 2040, 3000 CA, Rotterdam, the Netherlands. .; Abrona, Healthcare Organization for People with Intellectual Disability, Huis ter Heide, The Netherlands. .
Hamers P; Department of General Practice, Chair of Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, P.O. Box 2040, 3000 CA, Rotterdam, the Netherlands.
Oppewal A; Department of General Practice, Chair of Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, P.O. Box 2040, 3000 CA, Rotterdam, the Netherlands.
Maes-Festen D; Department of General Practice, Chair of Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, P.O. Box 2040, 3000 CA, Rotterdam, the Netherlands.; Ipse de Bruggen, Healthcare Organization for People with Intellectual Disability, Zoetermeer, The Netherlands.
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Źródło :
BMC psychiatry [BMC Psychiatry] 2021 Sep 06; Vol. 21 (1), pp. 439. Date of Electronic Publication: 2021 Sep 06.
Typ publikacji :
Clinical Trial Protocol; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Antipsychotic Agents*/therapeutic use
Intellectual Disability*/complications
Intellectual Disability*/drug therapy
Adult ; Behavioral Symptoms ; Double-Blind Method ; Humans ; Multicenter Studies as Topic ; Randomized Controlled Trials as Topic ; Risperidone/therapeutic use
Czasopismo naukowe
Tytuł :
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Autorzy :
Goodman LD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
Nil Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Ravenscroft TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Tien AC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands.
Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, Nijmegen, the Netherlands.
Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Geert Grooteplein Zuid 10, 6525 GA, PO Box 9101, the Netherlands.
Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
Wassink-Ruiter JSK; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
Wevers MR; Department of Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Jones M; Houston Area Pediatric Neurology, 24514 Kingsland Blvd, Katy, TX 77494, USA.
Walsh LE; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA.
Klee VH; Department of Pediatric Neurology, Riley Hospital for Children, Indianapolis, IN 46202, USA.
Theunis M; Center for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium.
Legius E; Department of Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.
Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Barwick KES; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Mohammad SS; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia.
Dale RC; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, Westmead, NSW 2145, Australia.
Terhal PA; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
Kirmse B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Robinette B; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Cogné B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France.
Isidor B; Centre hospitalier universitaire (CHU) de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Centre hospitalier universitaire (CHU) de Nantes, l'institut du thorax, 44007 Nantes, France.
Grebe TA; Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Department of Child Health, University of Arizona College of Medicine Phoenix, Phoenix, AZ 85004, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Hainline BE; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Sapp K; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Trapane P; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA.
Spencer C; University of Florida, College of Medicine, Jacksonville, Jacksonville, FL 32209, USA.
Si Y; GeneDx, Gaithersburg, MD 20877, USA.
Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.
Moulton MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA.
Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: .
Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: .
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Corporate Authors :
Undiagnosed Diseases Network; The Undiagnosed Diseases Network (UDN) consortia, see Supplemental Note S2 for co-investigators, Harvard University, Cambridge, MA 02138, USA.
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1669-1691. Date of Electronic Publication: 2021 Jul 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities/*genetics
Drosophila Proteins/*genetics
Eye Diseases, Hereditary/*genetics
Intellectual Disability/*genetics
Karyopherins/*genetics
Musculoskeletal Abnormalities/*genetics
beta Karyopherins/*genetics
ran GTP-Binding Protein/*genetics
Alleles ; Amino Acid Sequence ; Animals ; Developmental Disabilities/metabolism ; Developmental Disabilities/pathology ; Drosophila Proteins/antagonists & inhibitors ; Drosophila Proteins/metabolism ; Drosophila melanogaster/genetics ; Drosophila melanogaster/growth & development ; Drosophila melanogaster/metabolism ; Eye Diseases, Hereditary/metabolism ; Eye Diseases, Hereditary/pathology ; Female ; Gene Dosage ; Gene Expression Regulation, Developmental ; Genome, Human ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Karyopherins/antagonists & inhibitors ; Karyopherins/metabolism ; Male ; Musculoskeletal Abnormalities/metabolism ; Musculoskeletal Abnormalities/pathology ; Mutation ; Neurons/metabolism ; Neurons/pathology ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Sequence Alignment ; Sequence Homology, Amino Acid ; Whole Genome Sequencing ; beta Karyopherins/metabolism ; ran GTP-Binding Protein/metabolism
Czasopismo naukowe
Tytuł :
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Autorzy :
Stolz JR; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Foote KM; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Veenstra-Knol HE; Department of Genetics, University Medical Center Groningen, Groningen 9700, the Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6525, the Netherlands.
Ten Broeke SW; Department of Genetics, University Medical Center Groningen, Groningen 9700, the Netherlands.
de Leeuw N; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6525, the Netherlands.
Roht L; Department of Clinical Genetics, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu 51003, Estonia.
Pajusalu S; Department of Clinical Genetics, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu 51003, Estonia.
Part R; Department of Neonatal and Infant Medicine, Tallinn Children's Hospital, Tallinn 13419, Estonia.
Rebane I; Department of Neonatal and Infant Medicine, Tallinn Children's Hospital, Tallinn 13419, Estonia.
Õunap K; Department of Clinical Genetics, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Tartu University, Tartu 51003, Estonia.
Stark Z; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Kirk EP; School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Randwick, NSW 2031, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Lawson JA; Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Lunke S; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia.
Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Rogers RC; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Davis JM; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Innes AM; Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta T2N 4N1, Canada.
Wei XC; Department of Diagnostic Imaging, Cumming School of Medicine, University of Calgary, AB T2N 4N1, Canada.
Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Paris 75013, France.
Mignot C; Département de Génétique, Hôpital Pitié-Salpêtrière, Paris 75013, France.
Lebel RR; Division of Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Sperber SM; Department of Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Sakonju A; Department of Neurology, Upstate Health Care Center, Syracuse, NY 13210, USA.
Dosa N; Division of Development, Behavior, and Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.
van Bon BW; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6525, the Netherlands.
Kennedy J; University Hospital Bristol, NHS Foundation Trust, Bristol BS1 3NU, UK.
Low KJ; University Hospital Bristol, NHS Foundation Trust, Bristol BS1 3NU, UK.
Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Pang L; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Junewick JJ; Department of Radiology, Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA.
Mark PR; Spectrum Health Medical Genetics, Grand Rapids, MI 49503, USA.
Carvill GL; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Swanson GT; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1692-1709. Date of Electronic Publication: 2021 Aug 09.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Brain/*metabolism
Developmental Disabilities/*genetics
Epilepsy/*genetics
Intellectual Disability/*genetics
Receptors, Kainic Acid/*genetics
Adolescent ; Adult ; Alleles ; Brain/diagnostic imaging ; Brain/pathology ; Child ; Child, Preschool ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/metabolism ; Developmental Disabilities/pathology ; Epilepsy/diagnostic imaging ; Epilepsy/metabolism ; Epilepsy/pathology ; Evoked Potentials/physiology ; Gene Expression Regulation, Developmental ; Genetic Association Studies ; Heterozygote ; Homozygote ; Humans ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Ion Channel Gating ; Male ; Models, Molecular ; Neurons/metabolism ; Neurons/pathology ; Protein Conformation ; Receptors, Kainic Acid/chemistry ; Receptors, Kainic Acid/metabolism
Czasopismo naukowe
Tytuł :
Potentially inappropriate medicines for older adults with intellectual disability: Clinical implications from a medication audit.
Autorzy :
Lim AG; School of Nursing, The University of Auckland, Auckland, New Zealand.
Garriock J; Health and Disability Sector, Spectrum Care, Auckland, New Zealand.
Moody I; Spectrum Care, Auckland, New Zealand.
Frischtak H; Contra Costa Health Services, Martinez, CA, USA.
Montayre J; School of Nursing and Midwifery, Western Sydney University, Penrith, NSW, Australia.
Arroll B; Department of General Practice and Primary Health Care, University of Auckland, Auckland, New Zealand.
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Źródło :
Australasian journal on ageing [Australas J Ageing] 2021 Sep; Vol. 40 (3), pp. e207-e214. Date of Electronic Publication: 2021 Feb 01.
Typ publikacji :
Journal Article
MeSH Terms :
Intellectual Disability*/diagnosis
Intellectual Disability*/drug therapy
Aged ; Aging ; Humans ; Inappropriate Prescribing ; New Zealand ; Polypharmacy
Czasopismo naukowe
Tytuł :
Psychotropic Use Among Youths With Intellectual and Developmental Disabilities.
Autorzy :
McLaren JL; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Lichtenstein JD; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Metcalfe JD; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Charlot LR; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Drake RE; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
Beasley JB; Department of Psychiatry, Dartmouth-Hitchcock Medical Center, and the Dartmouth Institute for Health Policy and Clinical Practice, Lebanon, New Hampshire (McLaren, Lichtenstein); Geisel School of Medicine at Dartmouth, Hanover, New Hampshire (McLaren, Lichtenstein); Lebanon Westat, Lebanon, New Hampshire (Metcalfe, Drake); Department of Psychiatry, University of Massachusetts Medical School, Worcester (Charlot); Center for START Services, University of New Hampshire Institute on Disabilities, Concord (McLaren, Beasley).
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Źródło :
Psychiatric services (Washington, D.C.) [Psychiatr Serv] 2021 Sep 01; Vol. 72 (9), pp. 988-997. Date of Electronic Publication: 2021 Apr 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities*/drug therapy
Developmental Disabilities*/epidemiology
Intellectual Disability*/drug therapy
Intellectual Disability*/epidemiology
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cross-Sectional Studies ; Humans ; Polypharmacy ; Psychotropic Drugs/therapeutic use ; Young Adult
Czasopismo naukowe
Tytuł :
The relationship between antiepileptic drug load and challenging behaviors in older adults with intellectual disability and epilepsy.
Autorzy :
Monaghan R; School of Pharmacy and Pharmaceutical Sciences, Trinity College, College Green, Dublin 2, Ireland; The Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA), School of Nursing & Midwifery, Trinity College, College Green, Dublin 2, Ireland. Electronic address: .
O'Dwyer M; School of Pharmacy and Pharmaceutical Sciences, Trinity College, College Green, Dublin 2, Ireland.
Luus R; Trinity Centre for Ageing and Intellectual Disability, School of Nursing & Midwifery, Trinity College, College Green, Dublin 2, Ireland.
Mulryan N; Trinity Centre for Ageing and Intellectual Disability, School of Nursing & Midwifery, Trinity College, College Green, Dublin 2, Ireland; Daughters of Charity, Disability Support Services, St Vincent's Centre, Navan Rd, Dublin 7, Ireland.
McCallion P; School of Social Work, College of Public Health, Temple University, Philadelphia, PA, USA.
McCarron M; Trinity Centre for Ageing and Intellectual Disability, School of Nursing & Midwifery, Trinity College, College Green, Dublin 2, Ireland.
Henman MC; School of Pharmacy and Pharmaceutical Sciences, Trinity College, College Green, Dublin 2, Ireland.
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Źródło :
Epilepsy & behavior : E&B [Epilepsy Behav] 2021 Sep; Vol. 122, pp. 108191. Date of Electronic Publication: 2021 Jul 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsy*/complications
Epilepsy*/drug therapy
Epilepsy*/epidemiology
Intellectual Disability*/complications
Intellectual Disability*/drug therapy
Intellectual Disability*/epidemiology
Self-Injurious Behavior*
Aged ; Anticonvulsants/adverse effects ; Humans ; Longitudinal Studies
Czasopismo naukowe
Tytuł :
State of the practice of health information systems: a survey study amongst health care professionals in intellectual disability care.
Autorzy :
Tummers J; Information Technology, Wageningen University & Research, Hollandseweg 1, 6701KN, Wageningen, The Netherlands.; Department of Primary and Community Care, Radboud University Medical Center, P.O. Box 9101, 6500, HB, Nijmegen, The Netherlands.
Tobi H; Biometris, Wageningen University & Research, Droevendaalsesteeg 1, 6706OB, Wageningen, The Netherlands.
Schalk B; Department of Primary and Community Care, Radboud University Medical Center, P.O. Box 9101, 6500, HB, Nijmegen, The Netherlands.
Tekinerdogan B; Information Technology, Wageningen University & Research, Hollandseweg 1, 6701KN, Wageningen, The Netherlands. .
Leusink G; Department of Primary and Community Care, Radboud University Medical Center, P.O. Box 9101, 6500, HB, Nijmegen, The Netherlands.
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Źródło :
BMC health services research [BMC Health Serv Res] 2021 Nov 18; Vol. 21 (1), pp. 1247. Date of Electronic Publication: 2021 Nov 18.
Typ publikacji :
Journal Article
MeSH Terms :
Health Information Systems*
Intellectual Disability*/epidemiology
Intellectual Disability*/therapy
Delivery of Health Care ; Health Personnel ; Humans ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
The impact of nutrition on sleep in people with an intellectual disability: An integrative literature review.
Autorzy :
Harper L; Department of Nursing, Midwifery and Health, Faculty of Health and Life Sciences, Northumbria University, Newcastle upon Tyne, UK.
Ooms A; Kingston University and St Georges University, London, UK.
Tuffrey Wijne I; Kingston University and St Georges University, London, UK.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1393-1407. Date of Electronic Publication: 2021 Jul 02.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Intellectual Disability*
Humans ; Nutritional Status ; Sleep
Czasopismo naukowe
Tytuł :
Mitigating the impact of the 'silos' between the disability and aged-care sectors in Australia: Development of a Best Practice Framework.
Autorzy :
Hussain R; Australian National University, Canberra, ACT, Australia.
Parmenter T; University of Sydney, Sydney, NSW, Australia.
Wark S; University of New England, Armidale, NSW, Australia.
Janicki M; University of Illinois at Chicago, Chicago, IL, USA.
Knox M; University of Sydney, Sydney, NSW, Australia.
Hayhoe N; Nicola Hayhoe, The Housing Connection, Sydney, NSW, Australia.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1477-1488. Date of Electronic Publication: 2021 May 28.
Typ publikacji :
Journal Article
MeSH Terms :
Intellectual Disability*
Australia ; Humans ; Public Policy
Czasopismo naukowe
Tytuł :
Gender and racial/ethnic differences in food selectivity in children with intellectual disabilities.
Autorzy :
Rancaño KM; Friedman School of Nutrition Science and Policy, Tufts University, Boston, MA, USA.
Bandini LG; Eunice Kennedy Shriver Center/University of Massachusetts Medical School, Worcester, MA, USA.; Department of Health Sciences, Programs in Nutrition, Boston University, Boston, MA, USA.
Curtin C; Eunice Kennedy Shriver Center/University of Massachusetts Medical School, Worcester, MA, USA.
Eliasziw M; Department of Public Health and Community Medicine, Tufts University School of Medicine, Boston, MA, USA.
Odoms-Young A; Department of Kinesiology and Nutrition, University of Illinois at Chicago, Chicago, IL, USA.
Must A; Department of Public Health and Community Medicine, Tufts University School of Medicine, Boston, MA, USA.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1511-1520. Date of Electronic Publication: 2021 May 16.
Typ publikacji :
Journal Article
MeSH Terms :
Autism Spectrum Disorder*
Intellectual Disability*
Adolescent ; Child ; Ethnic Groups ; Female ; Hispanic Americans ; Humans ; Male ; Parents
Czasopismo naukowe
Tytuł :
Assessment of dementia in a clinical sample of persons with intellectual disability.
Autorzy :
Rösner P; Berlin Center for Mental Health in Developmental Disabilities, Evangelisches Krankenhaus Königin Elisabeth Herzberge, Berlin, Germany.
Berger J; Berlin Center for Mental Health in Developmental Disabilities, Evangelisches Krankenhaus Königin Elisabeth Herzberge, Berlin, Germany.
Tarasova D; Berlin Center for Mental Health in Developmental Disabilities, Evangelisches Krankenhaus Königin Elisabeth Herzberge, Berlin, Germany.
Birkner J; Berlin Center for Mental Health in Developmental Disabilities, Evangelisches Krankenhaus Königin Elisabeth Herzberge, Berlin, Germany.
Kaiser H; Berlin Center for Mental Health in Developmental Disabilities, Evangelisches Krankenhaus Königin Elisabeth Herzberge, Berlin, Germany.
Diefenbacher A; Department of Psychiatry, Charité-Universitätsmedizin Berlin, Campus Benjamin Franklin, Berlin, Germany.; Berlin Institute of Health, Berlin, Germany.
Sappok T; Berlin Center for Mental Health in Developmental Disabilities, Evangelisches Krankenhaus Königin Elisabeth Herzberge, Berlin, Germany.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1618-1629. Date of Electronic Publication: 2021 Jul 01.
Typ publikacji :
Journal Article
MeSH Terms :
Dementia*/diagnosis
Intellectual Disability*/diagnosis
Persons with Mental Disabilities*
Humans ; Neuropsychological Tests ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Autorzy :
Courraud J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Chater-Diehl E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Durand B; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Vincent M; Service de Génétique Médicale, CHU de Nantes & Inserm, CNRS, Université de Nantes, l'institut du thorax, Nantes, France.
Del Mar Muniz Moreno M; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Boujelbene I; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.
Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Genschik L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Schaefer E; Service de Génétique Médicale, IGMA, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Nizon M; Service de Génétique Médicale, CHU de Nantes & Inserm, CNRS, Université de Nantes, l'institut du thorax, Nantes, France.
Gerard B; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.
Abramowicz M; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
Cogné B; Service de Génétique Médicale, CHU de Nantes & Inserm, CNRS, Université de Nantes, l'institut du thorax, Nantes, France.
Bronicki L; Department of Genetics, CHEO, Ottawa, ON, Canada.
Burglen L; Centre de référence des malformations et maladies congénitales du cervelet et Département de génétique et embryologie médicale, APHP, Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
Barth M; Pediatrics & Biochemistry and Genetics, Department, Angers Hospital, Angers, France.
Charles P; Genetic Department, University Hospital Pitié-Salpêtrière, AP-HP, Paris, France.
Colin E; Pediatrics & Biochemistry and Genetics, Department, Angers Hospital, Angers, France.
Coubes C; Département de Génétique Médicale maladies rares et médecine personnalisée, Centre de Référence Maladies Rares Anomalies du Développement, Hôpital Arnaud de Villeneuve, Université Montpellier, Montpellier, France.
David A; Service de Génétique Médicale, CHU de Nantes & Inserm, CNRS, Université de Nantes, l'institut du thorax, Nantes, France.
Delobel B; Centre de Génétique Chromosomique, GHICL, Hôpital Saint Vincent de Paul, Lille, France.
Demurger F; Service de Génétique, CH Bretagne Atlantique-Vannes, Vannes, France.
Passemard S; Département de Génétique, Hôpital Universitaire Robert Debré, APHP, Paris, France.
Denommé AS; Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes malformatifs, Hôpital d'Enfants and INSERM UMR1231 GAD, FHU TRANSLAD, CHU de Dijon, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Faivre L; Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes malformatifs, Hôpital d'Enfants and INSERM UMR1231 GAD, FHU TRANSLAD, CHU de Dijon, Dijon, France.
Feger C; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.
Fradin M; Centre de Référence Maladies Rares, Unité Fonctionnelle de Génétique Médicale, CHU, Rennes, France.
Francannet C; Service de Génétique médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
Genevieve D; Département de Génétique Médicale maladies rares et médecine personnalisée, Centre de Référence Maladies Rares Anomalies du Développement, Hôpital Arnaud de Villeneuve, Université Montpellier, Montpellier, France.
Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
Guerrot AM; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
Isidor B; Service de Génétique Médicale, CHU de Nantes & Inserm, CNRS, Université de Nantes, l'institut du thorax, Nantes, France.
Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Keren B; Genetic Department, University Hospital Pitié-Salpêtrière, AP-HP, Paris, France.
Kibæk M; Department of Clinical Genetics, Odense Denmark Hospital, Odense University Hospital, Odense, Denmark.
Kuentz P; Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes malformatifs, Hôpital d'Enfants and INSERM UMR1231 GAD, FHU TRANSLAD, CHU de Dijon, Dijon, France.
Mathieu-Dramard M; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France.
Demeer B; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France.
Metreau J; APHP, Service de neurologie pédiatrique, Hôpital Universitaire Bicetre, Le Kremlin-Bicetre, France.
Steensbjerre Møller R; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Moutton S; Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes malformatifs, Hôpital d'Enfants and INSERM UMR1231 GAD, FHU TRANSLAD, CHU de Dijon, Dijon, France.
Pasquier L; Centre de Référence Maladies Rares, Unité Fonctionnelle de Génétique Médicale, CHU, Rennes, France.
Pilekær Sørensen K; Department of Clinical Genetics, Odense Denmark Hospital, Odense University Hospital, Odense, Denmark.
Perrin L; Department of Genetics, Robert Debré Hospital, AP-HP, Paris, France.
Renaud M; Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, Nancy, France.
Saugier P; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
Rio M; Department of medical genetics and reference centre for rare intellectual disabilities, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker Enfants Malades Hospital, Paris, France.
Svane J; Department of Clinical Genetics, Odense Denmark Hospital, Odense University Hospital, Odense, Denmark.
Thevenon J; Department of Genetics and Reproduction, Centre Hospitalo-Universitaire Grenoble-Alpes, Grenoble, France.
Tran Mau Them F; Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes malformatifs, Hôpital d'Enfants and INSERM UMR1231 GAD, FHU TRANSLAD, CHU de Dijon, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Tronhjem CE; Department of Clinical Genetics, Odense Denmark Hospital, Odense University Hospital, Odense, Denmark.
Vitobello A; Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes malformatifs, Hôpital d'Enfants and INSERM UMR1231 GAD, FHU TRANSLAD, CHU de Dijon, Dijon, France.
Layet V; Consultations de génétique, Groupe Hospitalier du Havre, Le Havre, France.
Auvin S; Center for rare epilepsies & epilepsy unit Robert-Debré Hospital, APHP, & INSERM NeuroDiderot, Université de Paris, Paris, France.
Khachnaoui K; Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France.
Birling MC; ICS, Mouse Clinical Institute, Illkirch-Graffenstaden, France.
Drunat S; Département de Génétique, Hôpital Universitaire Robert Debré, Paris, France.
Bayat A; Department of Clinical Genetics, Odense Denmark Hospital, Odense University Hospital, Odense, Denmark.
Dubourg C; Laboratoire de Génétique Moléculaire, CHU Pontchaillou, UMR 6290 CNRS, IGDR, Faculté de Médecine, Université de Rennes 1, Rennes, France.
El Chehadeh S; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.
Fagerberg C; Department of Clinical Genetics, Odense Denmark Hospital, Odense University Hospital, Odense, Denmark.
Mignot C; Pediatrics & Biochemistry and Genetics, Department, Angers Hospital, Angers, France.
Guipponi M; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
Bienvenu T; Molecular Genetics Laboratory, Cochin Hospital, APHP.Centre-Université de Paris, and INSERM UMR 1266, Institut de Psychiatrie et de Neurosciences de Paris, Paris, France.
Herault Y; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Thompson J; Complex Systems and Translational Bioinformatics (CSTB), ICube laboratory-CNRS, Fédération de Médecine Translationnelle de Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.
Willems M; Département de Génétique Médicale maladies rares et médecine personnalisée, Centre de Référence Maladies Rares Anomalies du Développement, Hôpital Arnaud de Villeneuve, Université Montpellier, Montpellier, France.
Mandel JL; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Weksberg R; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Institute of Medical Science, School of Graduate Studies, University of Toronto, Toronto, ON, Canada.
Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France. .; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France. .; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France. .; Université de Strasbourg, Illkirch, France. .; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France. .; Institut Universitaire de France, Paris, France. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2150-2159. Date of Electronic Publication: 2021 Aug 03.
Typ publikacji :
Journal Article
MeSH Terms :
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Microcephaly*
Animals ; Mice ; Phenotype ; Protein-Serine-Threonine Kinases/genetics ; Protein-Tyrosine Kinases/genetics
Czasopismo naukowe
Tytuł :
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Autorzy :
Manickam K; Division of Genetic and Genomic Medicine, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University College of Medicine, Columbus, OH, USA.
McClain MR; Scientific and Strategic Affairs, Evidera | PPD, Waltham, MA, USA.
Demmer LA; Division of Medical Genetics, Department of Pediatrics, Atrium Health's Levine Children's Hospital, Charlotte, NC, USA.
Biswas S; Division of Adult Genetics, Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Malinowski J; Write Inscite, LLC, South Salem, NY, USA.
Massingham LJ; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA.; Alpert School of Medicine at Brown University, Providence, RI, USA.
Miller D; MEPAN Foundation, Corte Madera, CA, USA.
Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.
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Corporate Authors :
ACMG Board of Directors
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2029-2037. Date of Electronic Publication: 2021 Jul 01.
Typ publikacji :
Journal Article
MeSH Terms :
Genetics, Medical*
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Child ; Exome/genetics ; Genomics ; Humans ; Infant ; Practice Guidelines as Topic ; United States ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
The experiences of therapists providing psychological treatment for adults with depression and intellectual disabilities as part of a randomised controlled trial.
Autorzy :
Smith IC; Faculty of Health and Medicine, Lancaster University, Lancaster, UK.
Huws JC; School of Health Sciences, Bangor University, Bangor, UK.
Appleton K; Institute of Health & Wellbeing, University of Glasgow, Glasgow, UK.
Cooper SA; Institute of Health & Wellbeing, University of Glasgow, Glasgow, UK.
Dagnan D; Community Learning Disability Services, Cumbria Partnership NHS Trust, Workington, UK.
Hastings RP; Centre for Educational Development, Appraisal and Research, University of Warwick, Coventry, UK.
Hatton C; Faculty of Health, Psychology and Social Care, Manchester Metropolitan University, Lancaster, UK.
Jones RSP; School of Psychology, Bangor University, Bangor, UK.
Melville C; University of Glasgow, Glasgow, UK.
Scott K; Institute of Health & Wellbeing, University of Glasgow, Glasgow, UK.
Williams C; Institute of Health & Wellbeing, University of Glasgow, Glasgow, UK.
Jahoda A; Institute of Health & Wellbeing, University of Glasgow, Glasgow, UK.
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Źródło :
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Nov; Vol. 34 (6), pp. 1442-1451. Date of Electronic Publication: 2021 Apr 07.
Typ publikacji :
Journal Article; Randomized Controlled Trial
MeSH Terms :
Intellectual Disability*/therapy
Learning Disabilities*
Adult ; Allied Health Personnel ; Behavior Therapy ; Depression ; Humans
Czasopismo naukowe
Tytuł :
Measurement of Sleep Behaviors in Chromosome 15q11.2-13.1 Duplication (Dup15q Syndrome).
Autorzy :
Barstein J; Jamie Barstein, The Help Group, Los Angeles; Shafali Jeste, Vidya Saravanapandian, Carly Hyde, and Charlotte Distefano, University of California, Los Angeles.
Jeste S; Jamie Barstein, The Help Group, Los Angeles; Shafali Jeste, Vidya Saravanapandian, Carly Hyde, and Charlotte Distefano, University of California, Los Angeles.
Saravanapandian V; Jamie Barstein, The Help Group, Los Angeles; Shafali Jeste, Vidya Saravanapandian, Carly Hyde, and Charlotte Distefano, University of California, Los Angeles.
Hyde C; Jamie Barstein, The Help Group, Los Angeles; Shafali Jeste, Vidya Saravanapandian, Carly Hyde, and Charlotte Distefano, University of California, Los Angeles.
Distefano C; Jamie Barstein, The Help Group, Los Angeles; Shafali Jeste, Vidya Saravanapandian, Carly Hyde, and Charlotte Distefano, University of California, Los Angeles.
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Źródło :
American journal on intellectual and developmental disabilities [Am J Intellect Dev Disabil] 2021 Nov 01; Vol. 126 (6), pp. 505-510.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Epilepsy*/genetics
Intellectual Disability*/genetics
Child ; Chromosomes ; Electroencephalography ; Humans ; Sleep
Czasopismo naukowe

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