Temat: "intellectual disability" - OpacWWW

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Intellectual disability.

Intellectual disability is a condition in which a person demonstrates significant limitations in both intellectual functioning and adaptive behavior. Diagnosis can be made at birth if intellectual disability is accompanied by physical abnormalities. However, an infant with mild intellectual disability may not be diagnosed until problems arise in school. The prevalence of intellectual disability is estimated to be between 1 and 3 percent of the world’s total population.

Salem Press Encyclopedia of Health, 2019. 5p.

Skocz do pozycji: 1 1.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 2 2.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 3 3.

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: .; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 4 4.

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: .; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 5 5.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 6 6.

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.; Pokaż więcej
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

Szczegóły Pełny tekst

Skocz do pozycji: 7 7.

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: .; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 8 8.

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: .; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 9 9.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 10 10.

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).; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 11 11.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 12 12.

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.; Pokaż więcej
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

Szczegóły Pełny tekst

Skocz do pozycji: 13 13.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 14 14.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 15 15.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 16 16.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 17 17.

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. .; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 18 18.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 19 19.

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.; Pokaż więcej
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

Szczegóły

Skocz do pozycji: 20 20.

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.; Pokaż więcej
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

Szczegóły

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Intellectual disability.