Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Intellectual Disability"" wg kryterium: Temat


Starter badań:

Tytuł :
Eyelid myoclonia with absences, intellectual disability and attention deficit hyperactivity disorder: a clinical phenotype of the RORB gene mutation.
Autorzy :
Morea A; Centre for Epilepsy, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Piazza Giulio Cesare 11, 70124, Bari, Italy. .
Boero G; Complex Structure of Neurology, SS Annunziata Hospital, Via Francesco Bruno 1, Taranto, 74121, Italy.
Demaio V; Centre for Epilepsy, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Piazza Giulio Cesare 11, 70124, Bari, Italy.
Francavilla T; Centre for Epilepsy, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Piazza Giulio Cesare 11, 70124, Bari, Italy.
La Neve A; Centre for Epilepsy, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Piazza Giulio Cesare 11, 70124, Bari, Italy.
Pokaż więcej
Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 May; Vol. 42 (5), pp. 2059-2062. Date of Electronic Publication: 2021 Jan 02.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Attention Deficit Disorder with Hyperactivity*/complications
Attention Deficit Disorder with Hyperactivity*/genetics
Epilepsies, Myoclonic*/complications
Epilepsies, Myoclonic*/genetics
Epilepsy, Absence*
Intellectual Disability*/complications
Intellectual Disability*/genetics
Electroencephalography ; Eyelids ; Humans ; Mutation ; Nuclear Receptor Subfamily 1, Group F, Member 2/genetics ; Phenotype
Czasopismo naukowe
Tytuł :
How Robust is the Evidence for a Role of Oxidative Stress in Autism Spectrum Disorders and Intellectual Disabilities?
Autorzy :
Burke SL; BRAINN Lab, School of Social Work, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA. .
Cobb J; Oxidative Stress Group, Department of Environmental Health Sciences, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.
Agarwal R; BRAINN Lab, School of Social Work, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; FIU Embrace, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; Department of Health Promotion and Disease Prevention, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.
Maddux M; BRAINN Lab, School of Social Work, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; FIU Embrace, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; Easterseals Blake Foundation, Tucson, AZ, USA.
Cooke MS; Oxidative Stress Group, Department of Environmental Health Sciences, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA. .; Biomolecular Sciences Institute, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA. .
Pokaż więcej
Źródło :
Journal of autism and developmental disorders [J Autism Dev Disord] 2021 May; Vol. 51 (5), pp. 1428-1445.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Autism Spectrum Disorder/*diagnosis
Autism Spectrum Disorder/*metabolism
Intellectual Disability/*diagnosis
Intellectual Disability/*metabolism
Oxidative Stress/*physiology
Antioxidants/metabolism ; Autism Spectrum Disorder/epidemiology ; Biomarkers/metabolism ; Female ; Glutathione/metabolism ; Humans ; Intellectual Disability/epidemiology ; Male ; Pregnancy ; Prenatal Exposure Delayed Effects/epidemiology ; Prenatal Exposure Delayed Effects/metabolism ; Reactive Oxygen Species/metabolism
Czasopismo naukowe
Tytuł :
The Use of Psychotropic Medication in Iranian Children with Developmental Disabilities.
Autorzy :
McConkey R; Institute of Nursing and Health Research, Ulster University, Newtownabbey BT37 0QB, Northern Ireland, UK.
Samadi SA; Institute of Nursing and Health Research, Ulster University, Newtownabbey BT37 0QB, Northern Ireland, UK.
Mahmoodizadeh A; Department of Testing and Evaluation, Autism Section, Iranian Special Education Organization, Tehran 1416935684, Iran.
Taggart L; Institute of Nursing and Health Research, Ulster University, Newtownabbey BT37 0QB, Northern Ireland, UK.
Pokaż więcej
Źródło :
International journal of environmental research and public health [Int J Environ Res Public Health] 2021 Apr 13; Vol. 18 (8). Date of Electronic Publication: 2021 Apr 13.
Typ publikacji :
Journal Article
MeSH Terms :
Autism Spectrum Disorder*/drug therapy
Autism Spectrum Disorder*/epidemiology
Intellectual Disability*/drug therapy
Intellectual Disability*/epidemiology
Adolescent ; Child ; Child, Preschool ; Developmental Disabilities/drug therapy ; Developmental Disabilities/epidemiology ; Humans ; Iran/epidemiology ; Male ; Psychotropic Drugs/therapeutic use
Czasopismo naukowe
Tytuł :
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Autorzy :
Norris K; Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Walne AJ; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
Ponsford MJ; Immunodeficiency Centre for Wales, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.; Division of Infection, Inflammation and Immunity, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Cleal K; Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Grimstead JW; Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Ellison A; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
Alnajar J; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
Dokal I; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK. .
Baird DM; Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK. .
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 2021 Jun; Vol. 140 (6), pp. 945-955. Date of Electronic Publication: 2021 Mar 11.
Typ publikacji :
Journal Article
MeSH Terms :
Bone Marrow Failure Disorders/*diagnosis
Dyskeratosis Congenita/*diagnosis
Fetal Growth Retardation/*diagnosis
Genetic Carrier Screening/*methods
Intellectual Disability/*diagnosis
Microcephaly/*diagnosis
Telomere/*pathology
Adolescent ; Adult ; Age Factors ; Aged ; Asymptomatic Diseases ; Bone Marrow Failure Disorders/genetics ; Bone Marrow Failure Disorders/pathology ; Case-Control Studies ; Child ; Child, Preschool ; Dyskeratosis Congenita/genetics ; Dyskeratosis Congenita/pathology ; Female ; Fetal Growth Retardation/genetics ; Fetal Growth Retardation/pathology ; Heterozygote ; Humans ; Infant ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Microcephaly/genetics ; Microcephaly/pathology ; Middle Aged ; Severity of Illness Index ; Survival Analysis ; Telomere/metabolism ; Telomere Homeostasis
SCR Disease Name :
Hoyeraal Hreidarsson syndrome
Czasopismo naukowe
Tytuł :
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Autorzy :
Salian S; Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.
Benkerroum H; Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.
Nguyen TTM; Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.
Nampoothiri S; Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre (AIMS), Kochi, 682041, India.
Kinoshita T; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, 565-0871, Japan.
Félix TM; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
Stewart F; Northern Ireland Regional Genetics Centre, Belfast, BT97AB, Northern Ireland.
Sisodiya SM; NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, 565-0871, Japan.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada. .
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 2021 Jun; Vol. 140 (6), pp. 879-884. Date of Electronic Publication: 2021 Jan 02.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation, Missense*
Craniofacial Abnormalities/*genetics
Glycosylphosphatidylinositols/*deficiency
Hand Deformities, Congenital/*genetics
Hearing Loss, Sensorineural/*genetics
Intellectual Disability/*genetics
Membrane Proteins/*genetics
Nails, Malformed/*genetics
Seizures/*genetics
Adolescent ; Amino Acid Sequence ; Animals ; Consanguinity ; Craniofacial Abnormalities/metabolism ; Craniofacial Abnormalities/pathology ; Female ; Gene Expression ; Glycosylphosphatidylinositols/genetics ; Glycosylphosphatidylinositols/metabolism ; HEK293 Cells ; Hand Deformities, Congenital/metabolism ; Hand Deformities, Congenital/pathology ; Hearing Loss, Sensorineural/metabolism ; Hearing Loss, Sensorineural/pathology ; Homozygote ; Humans ; Infant ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Male ; Membrane Proteins/deficiency ; Nails, Malformed/metabolism ; Nails, Malformed/pathology ; Seizures/metabolism ; Seizures/pathology ; Sequence Alignment ; Whole Exome Sequencing
SCR Disease Name :
Digitorenocerebral Syndrome; Glycosylphosphatidylinositol deficiency
Czasopismo naukowe
Tytuł :
Teaching NeuroImages: Ohtahara Syndrome due to Unilateral Perisylvian Polymicrogyria.
Autorzy :
Sekar S; From the Department of Imaging Sciences and Interventional Radiology (S.S., B.T., C.K.), Department of Neurology (P.R.), and Department of Imaging Sciences and Interventional Radiology (V.S.), Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India. .
Rudrabhatla P; From the Department of Imaging Sciences and Interventional Radiology (S.S., B.T., C.K.), Department of Neurology (P.R.), and Department of Imaging Sciences and Interventional Radiology (V.S.), Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Selvadasan V; From the Department of Imaging Sciences and Interventional Radiology (S.S., B.T., C.K.), Department of Neurology (P.R.), and Department of Imaging Sciences and Interventional Radiology (V.S.), Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Thomas B; From the Department of Imaging Sciences and Interventional Radiology (S.S., B.T., C.K.), Department of Neurology (P.R.), and Department of Imaging Sciences and Interventional Radiology (V.S.), Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Kesavadas C; From the Department of Imaging Sciences and Interventional Radiology (S.S., B.T., C.K.), Department of Neurology (P.R.), and Department of Imaging Sciences and Interventional Radiology (V.S.), Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Pokaż więcej
Źródło :
Neurology [Neurology] 2021 May 11; Vol. 96 (19), pp. e2456-e2457. Date of Electronic Publication: 2021 Jan 05.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Abnormalities, Multiple/*diagnostic imaging
Intellectual Disability/*complications
Intellectual Disability/*diagnostic imaging
Malformations of Cortical Development/*complications
Malformations of Cortical Development/*diagnostic imaging
Polymicrogyria/*complications
Polymicrogyria/*diagnostic imaging
Spasms, Infantile/*diagnostic imaging
Spasms, Infantile/*etiology
Abnormalities, Multiple/physiopathology ; Humans ; Infant ; Intellectual Disability/physiopathology ; Male ; Malformations of Cortical Development/physiopathology ; Polymicrogyria/physiopathology ; Spasms, Infantile/physiopathology
SCR Disease Name :
Infantile Epileptic-Dyskinetic Encephalopathy; Perisylvian syndrome
Czasopismo naukowe
Tytuł :
Choices, challenges, and constraints: a pragmatic examination of the limits of mental age matching in empirical research.
Autorzy :
Russo N; Department of Psychology, Syracuse University, Syracuse, NY, USA.
Kaplan-Kahn EA; Department of Psychology, Syracuse University, Syracuse, NY, USA.
Wilson J; Department of Psychology, Syracuse University, Syracuse, NY, USA.
Criss A; Department of Psychology, Syracuse University, Syracuse, NY, USA.
Burack JA; Department of Educational and Counselling Psychology, McGill University, Montreal, Quebec, Canada.
Pokaż więcej
Źródło :
Development and psychopathology [Dev Psychopathol] 2021 May; Vol. 33 (2), pp. 727-738.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Intellectual Disability*
Child ; Empirical Research ; Humans ; Intelligence
Czasopismo naukowe
Tytuł :
COVID-19 impact on psychological outcomes of parents, siblings and children with intellectual disability: longitudinal before and during lockdown design.
Autorzy :
Bailey T; CEDAR, University of Warwick, Coventry, UK.
Hastings RP; CEDAR, University of Warwick, Coventry, UK.; Centre for Developmental Psychiatry and Psychology, Department of Psychiatry, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Vic, Australia.
Totsika V; CEDAR, University of Warwick, Coventry, UK.; Centre for Developmental Psychiatry and Psychology, Department of Psychiatry, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Vic, Australia.; Department of Psychiatry, University College London, London, UK.
Pokaż więcej
Źródło :
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2021 May; Vol. 65 (5), pp. 397-404. Date of Electronic Publication: 2021 Feb 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
COVID-19*/prevention & control
Personal Satisfaction*
Disabled Children/*psychology
Intellectual Disability/*psychology
Parents/*psychology
Siblings/*psychology
Adult ; Child ; Female ; Humans ; Intellectual Disability/nursing ; Longitudinal Studies ; Male ; United Kingdom
Czasopismo naukowe
Tytuł :
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Autorzy :
Sanchez Russo R; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Gambello MJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Murphy MM; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Aberizk K; Department of Psychology, Emory University, Atlanta, GA, USA.
Black E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Burrell TL; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA.
Carlock G; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Cubells JF; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Department of Psychiatry and Behavioral Science, Emory University School of Medicine, Atlanta, GA, USA.
Epstein MT; Department of Psychiatry and Behavioral Science, Emory University School of Medicine, Atlanta, GA, USA.
Espana R; Department of Psychology, Emory University, Atlanta, GA, USA.
Goines K; Department of Psychology, Emory University, Atlanta, GA, USA.
Guest RM; Department of Psychology, Emory University, Atlanta, GA, USA.
Klaiman C; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA.
Koh S; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Li L; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA.
Novacek DM; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA, USA.; Desert Pacific Mental Illness, Research, Education, and Clinical Center, VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA.
Saulnier CA; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Neurodevelopmental Assessment & Consulting Services, Atlanta, GA, USA.
Sefik E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Department of Psychology, Emory University, Atlanta, GA, USA.
Shultz S; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA.
Walker E; Department of Psychology, Emory University, Atlanta, GA, USA.
White SP; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Marcus Autism Center, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA.
Mulle JG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. .; Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA. .
Pokaż więcej
Corporate Authors :
Emory 3q29 Project
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 872-880. Date of Electronic Publication: 2021 Feb 09.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Autism Spectrum Disorder*/diagnosis
Autism Spectrum Disorder*/genetics
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Psychotic Disorders*
Child ; Chromosome Deletion ; Developmental Disabilities/genetics ; Humans
Czasopismo naukowe
Tytuł :
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Autorzy :
Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
Gardner JF; All Wales Medical Genomics Service, Cardiff, United Kingdom.
van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
de Lange IM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Wilson GN; Texas Tech Health Science Center, Lubbock and KinderGenome Medical Genetics, Dallas, TX, USA.
Dubbs H; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Goldberg EM; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Zitano L; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
Bupp C; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
Martinez J; Department of Pediatrics and Adolescent Medicine, Division of Genetics, University of South Alabama, Mobile, AL, USA.
Srour M; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA.
Accogli A; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA.
Alhakeem A; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA.
Meltzer M; Department of Neurology, Children's National Hospital, Washington, DC, USA.
Gropman A; Department of Neurology, Children's National Hospital, Washington, DC, USA.
Brewer C; Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Caswell RC; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Montgomery T; Newcastle upon Tyne Hospitals NHS Foundation Trust, Washington, USA.
McKenna C; Northern Ireland Regional Genetics Service, Exeter, UK.
McKee S; Northern Ireland Regional Genetics Service, Exeter, UK.
Powell C; University Hospitals of Leicester NHS Trust Leicester Royal Infirmary Leicester, Exeter, UK.
Vasudevan PC; University Hospitals of Leicester NHS Trust Leicester Royal Infirmary Leicester, Exeter, UK.
Brady AF; North West Thames Regional Genetics Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.
Joss S; NHS Greater Glasgow and Clyde, Scotland, UK.
Tysoe C; Royal Devon and Exeter NHS Foundation Trust, Scotland, UK.
Noh G; Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, CA, USA.
Tarnopolsky M; Department of Pediatrics, Division of Neuromuscular and Neurometabolic Disorders, McMaster Children's Hospital, Hamilton, ON, Canada.
Brady L; Department of Pediatrics, Division of Neuromuscular and Neurometabolic Disorders, McMaster Children's Hospital, Hamilton, ON, Canada.
Zafar M; Duke University Health System, Durham, NC, USA.
Schrier Vergano SA; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Murray B; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Sawyer L; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Hainline BE; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Sapp K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
DeMarzo D; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Huismann DJ; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Wentzensen IM; GeneDx, Inc, Gaithersburg, MD, USA.
Schnur RE; GeneDx, Inc, Gaithersburg, MD, USA.
Monaghan KG; GeneDx, Inc, Gaithersburg, MD, USA.
Juusola J; GeneDx, Inc, Gaithersburg, MD, USA.
Rhodes L; GeneDx, Inc, Gaithersburg, MD, USA.
Dobyns WB; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.
Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Polster T; Paediatric Epileptology Krankenhaus Mara Bethel Epilepsy Centre Bielefeld, Bielefeld, Germany.
Axer-Schaefer S; Paediatric Epileptology Krankenhaus Mara Bethel Epilepsy Centre Bielefeld, Bielefeld, Germany.
Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, CA, USA.
MacArthur DG; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.
O'Leary MC; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
VanNoy GE; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
England E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Varghese VC; All Wales Medical Genomics Service, Cardiff, United Kingdom.
Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 881-887. Date of Electronic Publication: 2021 Jan 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Neurodevelopmental Disorders*/diagnosis
Neurodevelopmental Disorders*/genetics
Child ; Developmental Disabilities/genetics ; Humans ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Seizures/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Osteoporosis in Adult Patients with Intellectual and Developmental Disabilities: Special Considerations for Diagnosis, Prevention, and Management.
Autorzy :
Fritz R; From the Division of General Internal Medicine, University of Florida College of Medicine, Jacksonville.
Edwards L; From the Division of General Internal Medicine, University of Florida College of Medicine, Jacksonville.
Jacob R; From the Division of General Internal Medicine, University of Florida College of Medicine, Jacksonville.
Pokaż więcej
Źródło :
Southern medical journal [South Med J] 2021 Apr; Vol. 114 (4), pp. 246-251.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Developmental Disabilities/*complications
Intellectual Disability/*complications
Osteoporosis/*diagnosis
Osteoporosis/*therapy
Absorptiometry, Photon ; Adult ; Aged ; Aging ; Bone Density Conservation Agents/therapeutic use ; Combined Modality Therapy ; Developmental Disabilities/physiopathology ; Developmental Disabilities/psychology ; Humans ; Intellectual Disability/physiopathology ; Intellectual Disability/psychology ; Middle Aged ; Osteoporosis/etiology ; Osteoporosis/psychology ; Risk Factors
Czasopismo naukowe
Tytuł :
Specialist palliative care staff's varying experiences of talking with people with intellectual disability about their dying and death: A thematic analysis of in-depth interviews.
Autorzy :
Foo B; School of Psychology, The University of Sydney, Sydney, NSW, Australia.
Wiese M; School of Psychology, Western Sydney University, Penrith, NSW, Australia.
Curryer B; Centre for Disability Research and Policy, The University of Sydney, Sydney, NSW, Australia.
Stancliffe RJ; Centre for Disability Research and Policy, The University of Sydney, Sydney, NSW, Australia.
Wilson NJ; School of Nursing and Midwifery, Western Sydney University, Hawkesbury, NSW, Australia.
Clayton JM; Centre for Learning & Research in Palliative Care, HammondCare, Greenwich Hospital, Sydney, Australia; Northern Clinical School, The University of Sydney, Sydney, NSW, Australia.
Pokaż więcej
Źródło :
Palliative medicine [Palliat Med] 2021 Apr; Vol. 35 (4), pp. 738-749. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Hospice and Palliative Care Nursing*
Intellectual Disability*/therapy
Australia ; Communication ; Humans ; Palliative Care ; Qualitative Research
Czasopismo naukowe
Tytuł :
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Autorzy :
Bitarafan F; Department of Cellular and Molecular Biology, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Khodaeian M; Department of Medical Genetics, DeNA Laboratory, Tehran, Iran.
Almadani N; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran.
Kalhor A; Department of medical science, Qom branch, Islamic Azad University, Qom, Iran.
Sardehaei EA; Department of Medical Genetics, DeNA Laboratory, Tehran, Iran.
Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran.
Pokaż więcej
Źródło :
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2021 Apr; Vol. 40 (2), pp. 174-180. Date of Electronic Publication: 2019 Nov 09.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Intellectual Disability*
Microcephaly*/genetics
Child ; DNA Repair Enzymes/genetics ; Developmental Disabilities/genetics ; Humans ; Iran ; Mutation ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Seizures/genetics
Czasopismo naukowe
Tytuł :
Proactive case finding for severe mental illness in a rural area in the Indian Punjab: findings and lessons.
Autorzy :
Singh SM; Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh, India. .
Shouan A; Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sai Chiatanya Reddy B; Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Suman A; Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Kathiravan S; Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Pal P; Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Yadav V; Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Pokaż więcej
Źródło :
Social psychiatry and psychiatric epidemiology [Soc Psychiatry Psychiatr Epidemiol] 2021 Apr; Vol. 56 (4), pp. 707-710. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji :
Journal Article
MeSH Terms :
Community Mental Health Services*
Intellectual Disability*/diagnosis
Intellectual Disability*/epidemiology
Mental Disorders*/diagnosis
Mental Disorders*/epidemiology
Mental Health Services*
Humans ; Rural Population
Czasopismo naukowe
Tytuł :
Mentoring Students with Intellectual and Developmental Disabilities: Evaluation of Role-Specific Workshops for Mentors and Mentees.
Autorzy :
Agarwal R; BRAINN Lab, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA. .; FIU Embrace, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA. .; Department of Health Promotion and Disease Prevention, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA. .
Heron L; BRAINN Lab, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; FIU Embrace, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; Department of Industrial and Organizational Psychology, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.
Naseh M; BRAINN Lab, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; FIU Embrace, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; School of Social Work, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.
Burke SL; BRAINN Lab, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.; School of Social Work, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.
Pokaż więcej
Źródło :
Journal of autism and developmental disorders [J Autism Dev Disord] 2021 Apr; Vol. 51 (4), pp. 1281-1289.
Typ publikacji :
Journal Article
MeSH Terms :
Autism Spectrum Disorder/*therapy
Education, Special/*standards
Intellectual Disability/*therapy
Mentoring/*standards
Mentors/*education
Program Evaluation/*methods
Autism Spectrum Disorder/rehabilitation ; Child ; Female ; Humans ; Intellectual Disability/rehabilitation
Czasopismo naukowe
Tytuł :
CNV profiles of Chinese pediatric patients with developmental disorders.
Autorzy :
Yuan H; Dongguan Maternal and Child Health Care Hospital, Dongguan, China.; Dongguan Institute of Reproductive and Genetic Research, Dongguan, China.
Shangguan S; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
Li Z; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
Luo J; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Su J; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yao R; Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhang S; Department of Pediatrics, Chinese PLA General Hospital, Beijing, China.
Liang C; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
Chen Q; Department of Neurology, the affiliated hospital of Capital Institute of Pediatrics, Beijing, China.
Gao Z; Department of Neurology, the affiliated hospital of Capital Institute of Pediatrics, Beijing, China.
Zhu Y; Department of Neurology, the affiliated hospital of Capital Institute of Pediatrics, Beijing, China.
Zhang S; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Li W; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Lu W; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Zhang Y; Department of Lab center, Capital Institute of Pediatrics, Beijing, China.
Xie H; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
Liu F; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
Wang Q; Dongguan Maternal and Child Health Care Hospital, Dongguan, China.; Dongguan Institute of Reproductive and Genetic Research, Dongguan, China.
Lin Y; Dongguan Maternal and Child Health Care Hospital, Dongguan, China.; Dongguan Institute of Reproductive and Genetic Research, Dongguan, China.
Liu L; Department of Pediatrics, Chinese PLA General Hospital, Beijing, China.
Wang X; Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Endocrinology, Shanghai Children Medicine Center, Shanghai, China.
Liang L; Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China.
Zhong J; Department of Neurology, Jiangxi Children's Hospital, Nanchang, China.
Li H; Central Laboratory of Birth Defects Prevention and Control, Ningbo Women & Children's Hospital, Ninbo, China.
Qiu H; Department of Pediatrics, Ningbo Women & Children's Hospital, Ninbo, China.
Zhang H; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
Yan M; Department of Pediatrics, First Affiliated Hospital of Xinjiang Medical University, Xinjiang Uygur Autonomous Region, Ürümqi, China.
Mireguli M; Department of Pediatrics, First Affiliated Hospital of Xinjiang Medical University, Xinjiang Uygur Autonomous Region, Ürümqi, China.
Liu Y; Dongguan Maternal and Child Health Care Hospital, Dongguan, China.; Dongguan Institute of Reproductive and Genetic Research, Dongguan, China.
Zhang D; Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproduction, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Wang H; Department of Clinical Laboratory, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
Lv H; Department of Clinical Laboratory, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
Xie B; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Gui C; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Cui X; Department of Lab center, Capital Institute of Pediatrics, Beijing, China.
Zou L; Department of Pediatrics, Chinese PLA General Hospital, Beijing, China.
Wang J; Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Blavatnik Institute, Department of Genetics, Harvard Medical School, Boston, MA, USA.
Shen Y; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .; Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. .; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. .; Department of Neurology, Harvard Medical School, Boston, MA, USA. .
Chen X; Department of Genetics, Capital Institute of Pediatrics, Beijing, China. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 669-678. Date of Electronic Publication: 2021 Jan 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities*/epidemiology
Developmental Disabilities*/genetics
Intellectual Disability*/epidemiology
Intellectual Disability*/genetics
Child ; China/epidemiology ; Chromosome Aberrations ; DNA Copy Number Variations/genetics ; Female ; Humans
Czasopismo naukowe
Tytuł :
[Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42].
Autorzy :
Ren Y; Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China. .
Lyu Y
Ma J
Wang D
Zhang G
Liu Y
Gai Z
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jun 10; Vol. 38 (6), pp. 565-568.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Arthrogryposis*
GTP-Binding Protein beta Subunits*
Intellectual Disability*/genetics
Child ; Family ; Heterozygote ; Humans ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report.
Autorzy :
Kang Q; Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
Yang L; Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
Liao H; Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
Yang S; Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
Kuang X; Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
Ning Z; Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
Liao C; Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
Chen B; Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China. .
Pokaż więcej
Źródło :
BMC pediatrics [BMC Pediatr] 2021 Jun 01; Vol. 21 (1), pp. 256. Date of Electronic Publication: 2021 Jun 01.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Epilepsy*/genetics
Intellectual Disability*/genetics
TRPM Cation Channels*/genetics
Child ; China ; Humans ; Infant ; Mutation ; Mutation, Missense ; Phenotype
Czasopismo naukowe
Tytuł :
UK Mental Health Act reform: implications for people with intellectual disabilities and autism.
Autorzy :
Hassiotis A; Division of Psychiatry, University College London, London W1T 7NF, UK. Electronic address: .
Langdon PE; Centre for Educational Development, Appraisal and Research, University of Warwick, Coventry, UK.
Courtenay K; North London Forensic Service, Chase Farm Hospital, Barnet Enfield and Haringey Mental Health NHS Trust, Enfield, UK.
Pokaż więcej
Źródło :
The lancet. Psychiatry [Lancet Psychiatry] 2021 Jun; Vol. 8 (6), pp. 452-453. Date of Electronic Publication: 2021 Feb 19.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Autistic Disorder*/epidemiology
Intellectual Disability*/epidemiology
Comorbidity ; Humans ; Mental Health ; United Kingdom
Czasopismo naukowe
Tytuł :
Impact of Yoga on Mental Health and Sleep Quality Among Mothers of Children With Intellectual Disability.
Autorzy :
Ullas K
Maharana S
Metri KG
Gupta A
Nagendra HR
Pokaż więcej
Źródło :
Alternative therapies in health and medicine [Altern Ther Health Med] 2021 Jun; Vol. 27 (S1), pp. 128-132.
Typ publikacji :
Journal Article
MeSH Terms :
Intellectual Disability*/therapy
Meditation*
Yoga*
Adult ; Anxiety/therapy ; Child ; Depression/therapy ; Female ; Humans ; Mental Health ; Middle Aged ; Mothers ; Quality of Life ; Sleep
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies