Suchergebnisse - "Intellectual Disability complications"

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Autoren: Nathan Buijsse Floor E. Jansen Charlotte W. Ockeloen et al.

Weitere Verfasser: Nathan Buijsse Floor E. Jansen Charlotte W. Ockeloen et al.

Quelle: Epilepsia Open
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Epilepsia Open, 8, 4, pp. 1300-1313
Buijsse, N, Jansen, F E, Ockeloen, C W, van Kempen, M J A, Zeidler, S, Willemsen, M H, Scarano, E, Monticone, S, Zonneveld-Huijssoon, E, Low, K J, Bayat, A, Sisodiya, S M, Samanta, D, Lesca, G, de Jong, D, Giltay, J C, Verbeek, N E, Kleefstra, T, Brilstra, E H & Vlaskamp, D R M 2023, ' Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome ', Epilepsia open, vol. 8, no. 4, pp. 1300-1313 . https://doi.org/10.1002/epi4.12799

Schlagwörter: Abnormalities, Multiple/etiology, Multiple/etiology, seizure, Clinical Neurology, Radboud University Medical Center, genotype-phenotype correlation, Intellectual Disability/complications, ANKRD11 gene, Intellectual Disability, Journal Article, Humans, Abnormalities, Multiple, Tooth Abnormalities/etiology, RC346-429, Repressor Proteins/genetics, Bone Diseases, Developmental, Epilepsy, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, neurodevelopment, Generalized, Tooth Abnormalities, Developmental/etiology, Bone Diseases, Developmental/etiology, Infant, Facies, genotype–phenotype correlation, Original Articles, 3. Good health, Repressor Proteins, Neurology, Epilepsy, Generalized, Neurology. Diseases of the nervous system, Abnormalities, Bone Diseases, Transcription Factors

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37501353
https://doaj.org/article/aed334dc863943859f018af92b96be34
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/300069
https://doi.org/10.1002/epi4.12799
https://research.rug.nl/en/publications/c9f0c6a4-40a4-4fc7-af5c-078d5bc8ca3d
https://hdl.handle.net/11370/c9f0c6a4-40a4-4fc7-af5c-078d5bc8ca3d
https://doi.org/10.1002/epi4.12799
https://dspace.library.uu.nl/handle/1874/449726
https://repository.ubn.ru.nl//bitstream/handle/2066/300069/300069.pdf
https://hdl.handle.net/2066/300069
https://curis.ku.dk/ws/files/390506980/Epilepsia_Open_2023_Buijsse_Epilepsy_is_an_important_feature_of_KBG_syndrome_associated_with_poorer_developmental.pdf
https://discovery-pp.ucl.ac.uk/id/eprint/10175743/

Automated sleep staging in people with intellectual disabilities using heart rate and respiration variability

Autoren: van den Broek, Naomi van Meulen, Fokke Ross, Marco et al.

Quelle: Journal of Intellectual Disability Research. 67:720-733

Schlagwörter: respiration variability, Respiration, heart rate variability, Reproducibility of Results, sleep stages, unobtrusive, SDG 3 – Goede gezondheid en welzijn, Intellectual Disability/complications, 3. Good health, Sleep/physiology, polysomnography, SDG 3 - Good Health and Well-being, Heart Rate, Intellectual Disability, Humans, Sleep Stages, intellectual disabilities, Sleep Stages/physiology, Sleep

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37291951
https://research.tue.nl/en/publications/30867a74-92a9-4cd9-a93f-8786d0f51e7e
https://doi.org/10.1111/jir.13060

Behavioral pain indicators for adults with an intellectual disability: a scoping review protocol

Autoren: Gilliand, Morgane Perrenoud, Béatrice Lecerf, Thierry et al.

Quelle: JBI Evid Synth
JBI evidence synthesis, vol. 21, no. 1, pp. 254-263

Schlagwörter: Adult, Pain, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Pain/diagnosis, Pain Measurement, Review Literature as Topic, Systematic Reviews as Topic, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, 0305 other medical science, 10. No inequality, Protocols

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36000781
https://archive-ouverte.unige.ch/unige:165467
https://doi.org/10.11124/jbies-21-00434
https://serval.unil.ch/notice/serval:BIB_EFAB6C345AB6
https://serval.unil.ch/resource/serval:BIB_EFAB6C345AB6.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EFAB6C345AB63

Rôle du médecin traitant dans le suivi des patients avec déficience intellectuelle et développementale

Autoren: Graindorge, Clément Bochatay, Alexandre Chung, Christopher et al.

Quelle: Revue médicale suisse, Vol. 16, No 708 (2020) pp. 1811-1816

Schlagwörter: Hospitalization, Developmental Disabilities/complications, 03 medical and health sciences, 0302 clinical medicine, Caregivers, General Practitioners, Communication, Humans, Physician's Role, Intellectual Disability/complications, ddc:613

Dateibeschreibung: application/pdf

Zugangs-URL: https://archive-ouverte.unige.ch/unige:145051/ATTACHMENT01
https://archive-ouverte.unige.ch/unige:145051

Top 5 des problèmes somatiques chez les personnes en situation de handicap mental avec troubles du comportement

Autoren: Ba, Marieme Daniluk, Anna Maria Salamun, Julien et al.

Quelle: Revue médicale suisse, Vol. 16, No 708 (2020) pp. 1796-1800

Schlagwörter: Adult, Personality Disorders/diagnosis, Problem Behavior, 0301 basic medicine, Personality Disorders/psychology, Intellectual Disability/complications, Pain/psychology, 03 medical and health sciences, Medically Unexplained Symptoms, 0302 clinical medicine, Intellectual Disability/psychology, Pain/complications, Humans, Personality Disorders/complications, Pain/diagnosis, ddc:613

Dateibeschreibung: application/pdf

Zugangs-URL: https://archive-ouverte.unige.ch/unige:145086/ATTACHMENT01
https://archive-ouverte.unige.ch/unige:145086

Using realist methods for intervention development to fill a methodological gap: A case study showing the development of an oral hygiene intervention for people with intellectual developmental disabilities

Autoren: Mac Giolla Phadraig, Caoimhin Asimakopoulou, Koula Faulks, Denise et al.

Weitere Verfasser: Mac Giolla Phadraig, Caoimhin Asimakopoulou, Koula Faulks, Denise et al.

Quelle: ISSN: 0301-5661.

Schlagwörter: behavioral science, dental health education, oral health, oral hygiene, MESH: Developmental Disabilities / complications, MESH: Developmental Disabilities / therapy, MESH: Health Promotion, MESH: Intellectual Disability / complications, MESH: Oral Health, MESH: Oral Hygiene, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36759914; PUBMED: 36759914

Verfügbarkeit: https://uca.hal.science/hal-04323742
https://uca.hal.science/hal-04323742v1/document
https://uca.hal.science/hal-04323742v1/file/Mac%20Giolla%20Phadraig%20et%20al%20Comm%20Dent%20Oral%20Epid%202023%20Using%20realist%20methods%20for%20intervention%20development%20to%20fill%20a.pdf
https://doi.org/10.1111/cdoe.12844

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.

Autoren: Lebon, S. Quinodoz, M. Peter, V.G. et al.

Schlagwörter: Abortion, Eugenic, Agenesis of Corpus Callosum/complications, Agenesis of Corpus Callosum/diagnosis, Agenesis of Corpus Callosum/genetics, Child, Preschool, Developmental Disabilities/complications, Developmental Disabilities/genetics, Facial Asymmetry/complications, Facial Asymmetry/genetics, Family, Female, Fetal Diseases/diagnosis, Fetal Diseases/genetics, Heterozygote, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Jumonji Domain-Containing Histone Demethylases/genetics, Mutation, Missense, Nuclear Proteins/genetics, Pedigree, Pregnancy, Repressor Proteins/genetics, Siblings, Switzerland, KDM5B

Dateibeschreibung: application/pdf

Relation: Genes; https://iris.unil.ch/handle/iris/82387; serval:BIB_14ADEBC9C07B; 000699848500001

Verfügbarkeit: https://iris.unil.ch/handle/iris/82387
https://doi.org/10.3390/genes12091397

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Autoren: Garavelli, L. Maini, I. Baccilieri, F. et al.

Schlagwörter: Brachydactyly, Child, Cryptorchidism/complications, Cryptorchidism/diagnosis, Cryptorchidism/genetics, Facies, Fingers/abnormalities, Fingers/diagnostic imaging, Growth Disorders/complications, Growth Disorders/diagnosis, Growth Disorders/genetics, Hand Deformities, Congenital/complications, Congenital/diagnosis, Congenital/genetics, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Male, Mutation, Missense/genetics, Nails, Malformed/physiopathology, Pericarditis/etiology, Phenotype, Radiography, Retrospective Studies, Smad4 Protein/genetics, Cardiac tamponade

Relation: European Journal of Pediatrics; https://iris.unil.ch/handle/iris/233470; serval:BIB_E38F53238588; 000385145600005

Verfügbarkeit: https://iris.unil.ch/handle/iris/233470
https://doi.org/10.1007/s00431-016-2761-3

Approaches to communication assessment with children and adults with profound intellectual and multiple disabilities

Autoren: Darren Chadwick Susan Buell Juliet Goldbart

Quelle: J Appl Res Intellect Disabil

Schlagwörter: name=Education, Persons with Disabilities, Health Personnel/statistics & numerical data, 1702 Cognitive Sciences, 1607 Social Work, Social Sciences, LANGUAGE, Intellectual Disability/complications, Communication Disorders/diagnosis, Psychology, Child, 10. No inequality, Language Tests, Speech Therapy/statistics & numerical data, Communication, 4. Education, Rehabilitation, 05 social sciences, IMPAIRMENT, PREVALENCE, 3. Good health, RELIABILITY, Communication Disorders, name=Developmental and Educational Psychology, 0305 other medical science, Life Sciences & Biomedicine, Adult, YOUNG-CHILDREN, Health Personnel, Profound and Multiple Learning Disability, Language Tests/statistics & numerical data, STUDENTS, Assessment, Speech Therapy, 03 medical and health sciences, Disabled Persons/statistics & numerical data, PEOPLE, Intellectual Disability, Humans, 0501 psychology and cognitive sciences, Language Therapy/statistics & numerical data, VALIDITY, Science & Technology, Psychology, Educational, Original Articles, United Kingdom, 1701 Psychology, Language Therapy

Dateibeschreibung: application/pdf; application/PDF

Zugangs-URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jar.12530
https://pubmed.ncbi.nlm.nih.gov/30430716
https://discovery.dundee.ac.uk/en/publications/approaches-to-communication-assessment-with-children-and-adults-w
https://onlinelibrary.wiley.com/doi/full/10.1111/jar.12530
https://ueaeprints.uea.ac.uk/id/eprint/69105/
https://pubmed.ncbi.nlm.nih.gov/30430716/
https://europepmc.org/article/MED/30430716
https://ueaeprints.uea.ac.uk/id/eprint/69105/
https://e-space.mmu.ac.uk/621412/

Mood, anxiety, and perceived quality of life in adults with epilepsy and intellectual disability

Autoren: Francesca M. Snoeijen‐Schouwenaars Jans S. van Ool In Y. Tan et al.

Quelle: Acta Neurologica Scandinavica. 139:519-525

Schlagwörter: Adult, Male, validity, Quality of Life/psychology, Depression/epidemiology, developmental disability, Anxiety, SDG 3 – Goede gezondheid en welzijn, Intellectual Disability/complications, Young Adult, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, PEOPLE, Intellectual Disability, Surveys and Questionnaires, Prevalence, anxiety disorder, Humans, VALIDITY, Epilepsy/complications, seizures, Aged, people, reliability, Epilepsy, Depression, paper, Anticonvulsants/therapeutic use, Middle Aged, DEPRESSION, 3. Good health, Affect, RELIABILITY, depression, PAPER, Quality of Life, Anticonvulsants, Female, mental health, Anxiety/epidemiology

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/30820944
https://cris.maastrichtuniversity.nl/en/publications/6eebe5a3-f133-4640-8763-75c512e1cea4
https://doi.org/10.1111/ane.13085
https://research.tue.nl/nl/publications/mood-anxiety-and-perceived-quality-of-life-in-adults-with-epileps
https://cris.maastrichtuniversity.nl/en/publications/mood-anxiety-and-perceived-quality-of-life-in-adults-with-epileps
https://www.narcis.nl/publication/RecordID/oai%3Apure.tue.nl%3Apublications%2Ff0204291-2f59-4472-a93e-684e79368679
https://onlinelibrary.wiley.com/doi/10.1111/ane.13085
https://europepmc.org/article/MED/30820944
https://www.ncbi.nlm.nih.gov/pubmed/30820944

Prevalence and characteristics of children with cerebral palsy according to socioeconomic status of areas of residence in a French department

Autoren: Delobel-Ayoub, Malika Ehlinger, Virginie Klapouszczak, Dana et al.

Weitere Verfasser: Delobel-Ayoub, Malika Ehlinger, Virginie Klapouszczak, Dana et al.

Quelle: ISSN: 1932-6203.

Schlagwörter: MESH: Adult, MESH: Cerebral Palsy / complications, MESH: Social Class, MESH: Young Adult, MESH: Cerebral Palsy / epidemiology, MESH: Child, MESH: Humans, MESH: Infant, Newborn, MESH: Intellectual Disability / complications, MESH: Prevalence, MESH: Risk Factors, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35588131; PUBMED: 35588131; PUBMEDCENTRAL: PMC9119545

Verfügbarkeit: https://ut3-toulouseinp.hal.science/hal-04554929
https://ut3-toulouseinp.hal.science/hal-04554929v1/document
https://ut3-toulouseinp.hal.science/hal-04554929v1/file/DELOBEL-AYOUB_2022.pdf
https://doi.org/10.1371/journal.pone.0268108

Defining the phenotypic spectrum of SLC6A1 mutations

Autoren: Deb K. Pal Sha Tang Judith S. Verhoeven et al.

Weitere Verfasser: Deb K. Pal Sha Tang Judith S. Verhoeven et al.

Quelle: Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Rubboli, G & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986
Epilepsia, vol 59, iss 2
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A-E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M-T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W-H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J-H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Helbig, I, Rubboli, G, Mefford, H C & Møller, R S 2018, 'Defining the phenotypic spectrum of SLC6A1 mutations', Epilepsia, vol. 59, no. 2, pp. 389-402. https://doi.org/10.1111/epi.13986

Schlagwörter: Male, 0301 basic medicine, Epilepsies, Myoclonic, Neurodegenerative, Epilepsies, Epilepsies, Myoclonic/complications, Intellectual Disability/complications, Cohort Studies, 0302 clinical medicine, Neurodevelopmental Disorders/complications, 2.1 Biological and endogenous factors, Valproic Acid/therapeutic use, Aetiology, Child, Ataxia/complications, Anticonvulsants/therapeutic use, Electroencephalography, MAE, 3. Good health, Language Development Disorders/complications, Phenotype, Treatment Outcome, Child, Preschool, Neurological, Anticonvulsants, Epilepsy, Generalized, Female, Partial, Adult, SLC6A1, epilepsy, epilepsy genetics, GABA Plasma Membrane Transport Proteins, Adolescent, Epilepsies, Partial/complications, Epilepsy, Generalized/complications, Clinical Sciences, Mutation, Missense, GABA Plasma Membrane Transport Proteins/genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Young Adult, 03 medical and health sciences, Clinical Research, Intellectual Disability, Behavioral and Social Science, Genetics, Humans, Language Development Disorders, Preschool, Genetic Association Studies, Epilepsy, Neurology & Neurosurgery, Generalized, Valproic Acid, Neurosciences, Brain Disorders, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Mutation, Ataxia, Epilepsies, Partial, Missense, Myoclonic

Dateibeschreibung: application/pdf

Zugangs-URL: https://europepmc.org/articles/pmc5912688?pdf=render
https://pubmed.ncbi.nlm.nih.gov/29315614
https://pure-portal.regsj.dk/da/publications/defining-the-phenotypic-spectrum-of-slc6a1-mutations
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912688/
https://onlinelibrary.wiley.com/doi/10.1111/epi.13986
https://www.scholars.northwestern.edu/en/publications/defining-the-phenotypic-spectrum-of-slc6a1-mutations
https://publikationen.uni-tuebingen.de/xmlui/handle/10900/95687
https://portal.findresearcher.sdu.dk/da/publications/defining-the-phenotypic-spectrum-of-slc6a1-mutations
https://portal.findresearcher.sdu.dk/da/publications/a65256fd-ff30-4581-8744-cbeca3c9ef9d
https://doi.org/10.1111/epi.13986
https://findresearcher.sdu.dk:8443/ws/files/197722787/SLC6A1_Epilepsia_Revision_Clean.pdf
https://hdl.handle.net/11573/1076617
https://doi.org/10.1111/epi.13986
https://hdl.handle.net/11567/1022019
https://doi.org/10.1111/epi.13986
https://hal.sorbonne-universite.fr/hal-01973517v1
https://doi.org/10.1111/epi.13986
https://hal.sorbonne-universite.fr/hal-01973517v1/document
https://escholarship.org/uc/item/2q37p21v
https://pure.au.dk/portal/en/publications/1e7b003b-a3df-4d8d-85a6-5d2daeb1d990
https://doi.org/10.1111/epi.13986
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912688/pdf/nihms954129.pdf
http://www.scopus.com/inward/record.url?scp=85041378864&partnerID=8YFLogxK

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

Autoren: Kleinendorst, Lotte Abawi, Ozair van der Voorn, Bibian et al.

Weitere Verfasser: Kleinendorst, Lotte Abawi, Ozair van der Voorn, Bibian et al.

Schlagwörter: Adolescent, Ambulatory Care Facilities, Brain Diseases/complications, Child, Preschool, Drug-Related Side Effects and Adverse Reactions/diagnosis, Endocrine System Diseases/complications, Female, Genetic Testing, Humans, Infant, Newborn, Intellectual Disability/complications, Male, Netherlands, Pediatric Obesity/diagnosis, Phenotype, Prospective Studies, Journal Article, Observational Study

Dateibeschreibung: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/439775

Verfügbarkeit: https://dspace.library.uu.nl/handle/1874/439775

Department of Mental Retardation treatment of potentially dangerous clients

Additional Titles: OLR research report ; 2000-R-0839

Autoren: Spigel, Saul.

Schlagworte: People with mental disabilities Deinstitutionalization Planning. Connecticut, Developmentally disabled Deinstitutionalization Planning. Connecticut, People with mental disabilities and crime Connecticut., Violent crimes Prevention. Connecticut, Intellectual disability Complications., Self-injurious behavior Prevention., Violence Prevention., Aggressiveness Prevention., Personnes ayant une déficience intellectuelle Désinstitutionnalisation Planification. Connecticut, Personnes atteintes de troubles du développement Désinstitutionnalisation Planification. Connecticut, Personnes ayant une déficience intellectuelle et criminalité Connecticut., Déficience intellectuelle Complications et séquelles., Aggressiveness Prevention., Intellectual disability Complications., People with mental disabilities and crime., Self-injurious behavior Prevention., Violence Prevention., Violent crimes Prevention., Connecticut.

URL: https://cslib.contentdm.oclc.org/digital/collection/p128501coll2/search/searchterm/191091710/field/dmoclcno/mode/all/conn/all/order/pdidat/ad/desc
http://www.cga.ct.gov/2000/rpt/olr/htm/2000-R-0839.htm

Interdisciplinary Treatment for an Adult Patient With Anterior Open Bite, Severe Periodontitis, and Intellectual Disability

Autoren: Sung Hwan Choi Young-Soo Jung Da Young Kang et al.

Weitere Verfasser: Sung Hwan Choi Young-Soo Jung Da Young Kang et al.

Quelle: Journal of Craniofacial Surgery. 26:e240-e244

Schlagwörter: Open Bite/therapy, Adult, complications, Cephalometry, Osteotomy, Sagittal Split Ramus, Orthodontics, infratemporal fossa, Orthodontics, Corrective, nasopharynx, 03 medical and health sciences, 0302 clinical medicine, Open Bite/complications, Intellectual Disability, Humans, aesthetic surgery, Periodontitis, 10. No inequality, Corrective/methods, Intellectual Disability/complications, 2. Zero hunger, Foreign bodies, Periodontitis/complications, Sagittal Split Ramus/methods, Open Bite, Osteotomy, 3. Good health, Periodontitis/therapy, Female

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/25974822
https://europepmc.org/article/MED/25974822
https://yonsei.pure.elsevier.com/en/publications/interdisciplinary-treatment-for-an-adult-patient-with-anterior-op
https://ir.ymlib.yonsei.ac.kr/handle/22282913/140648
https://pubmed.ncbi.nlm.nih.gov/25974822/
https://www.ncbi.nlm.nih.gov/pubmed/25974822

ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18

Autoren: Pei Chun Wu Chih Ya Cheng Ming-Ji Fann et al.

Quelle: Experimental Neurology. 267:143-151

Schlagwörter: Testis/pathology, Male, 0301 basic medicine, Endoplasmic Reticulum/ultrastructure, Axonal degeneration, Genetics & genetic processes, Optic Atrophy/chemically induced, Endoplasmic Reticulum, Eye, Intellectual Disability/complications, rab GTP-Binding Proteins/deficiency, Abnormalities, Multiple/chemically induced, Cornea, Microcephaly/genetics, Génétique & processus génétiques, Mice, Abnormalities, Multiple/genetics, Sequence Deletion/genetics, Optic Nerve Diseases, Testis, Mutagenesis/drug effects, Microcephaly/chemically induced, Microphthalmos, Endoplasmic Reticulum/pathology, Optic Nerve Diseases/etiology, Nerve Degeneration/etiology, Nerve Degeneration/pathology, Sequence Deletion, 0303 health sciences, Age Factors, Axons/ultrastructure, Cataract/genetics, Microphthalmos/genetics, Life sciences, 3. Good health, Hypogonadism/chemically induced, Touch Perception, Neurology, Cornea/abnormalities, Sciences du vivant, Microcephaly, Touch Perception/drug effects, Ethylnitrosourea/pharmacology, Intellectual Disability/chemically induced, Optic Atrophy/genetics, Mice, Transgenic, Microcephaly/complications, Cataract, Cataract/congenital, Optic Nerve Diseases/genetics, 03 medical and health sciences, Developmental Neuroscience, rab GTP-Binding Proteins/genetics, Intellectual Disability, Animals, Abnormalities, Multiple, Cataract/complications, Stomping gait, Hypogonadism/complications, Eye/pathology, Sensory, Hypogonadism, Rab18, Intellectual Disability/genetics, Axons, Touch Perception/genetics, Mice, Inbred C57BL, Optic Atrophy, Disease Models, Animal, Axons/pathology, rab GTP-Binding Proteins, Mutagenesis, Hypogonadism/genetics, Ethylnitrosourea, Nerve Degeneration, Rab18 protein, mouse, Psychomotor Performance/drug effects, Optic Atrophy/complications, Warburg Micro Syndrome, Microphthalmos/etiology, Psychomotor Performance, Cataract/chemically induced

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/25779931
https://scholar.nycu.edu.tw/zh/publications/enu-mutagenesis-identifies-mice-modeling-warburg-micro-syndrome-w
https://www.ncbi.nlm.nih.gov/pubmed/25779931
https://europepmc.org/article/MED/25779931
https://www.sciencedirect.com/science/article/pii/S0014488615000709
https://hdl.handle.net/2268/330651
https://doi.org/10.1016/j.expneurol.2015.03.003

Multimodal nocturnal seizure detection in a residential care setting:a long-term prospective trial

Autoren: Arends, Johan Thijs, Roland D. Gutter, Thea et al.

Quelle: Arends, J, Thijs, R D, Gutter, T, Ungureanu, C, Cluitmans, P, van Dijk, J, van Andel, J, Tan, F, de Weerd, A, Vledder, B, Hofstra, W, Lazeron, R, van Thiel, G, Roes, K C B & Leijten, F 2018, 'Multimodal nocturnal seizure detection in a residential care setting : a long-term prospective trial', Neurology, vol. 91, no. 21, pp. e2010-e2019. https://doi.org/10.1212/WNL.0000000000006545

Schlagwörter: Accelerometry/instrumentation, Adolescent, Adult, Aged, Cohort Studies, Epilepsy/complications, Female, Heart Rate/physiology, Humans, Intellectual Disability/complications, Male, Middle Aged, Movement/physiology, Photoplethysmography/instrumentation, Prospective Studies, Reproducibility of Results, Residential Facilities, Seizures/diagnosis, Sleep, Wearable Electronic Devices, Young Adult

Dateibeschreibung: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/30355702; info:eu-repo/semantics/altIdentifier/wos/000452517000007; info:eu-repo/semantics/altIdentifier/pissn/0028-3878

Verfügbarkeit: https://research.tue.nl/en/publications/bbb29ec9-0d75-4c97-907a-f8d898718679
https://doi.org/10.1212/WNL.0000000000006545
https://pure.tue.nl/ws/files/113151327/e2010.full.pdf
https://www.scopus.com/pages/publications/85056692409

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Autoren: Aad Verrips Helena Malmgren Elizabeth A. Jones et al.

Weitere Verfasser: Aad Verrips Helena Malmgren Elizabeth A. Jones et al.

Quelle: Eur J Hum Genet
Ockeloen, C W, Willemsen, M H, de Munnik, S, van Bon, B W M, de Leeuw, N, Verrips, A, Kant, S G, Jones, E A, Brunner, H G, van Loon, R L E, Smeets, E E J, van Haelst, M M, van Haaften, G, Nordgren, A, Malmgren, H, Grigelioniene, G, Vermeer, S, Louro, P, Ramos, L, Maal, T J J, van Heumen, C C, Yntema, H G, Carels, C E L & Kleefstra, T 2015, 'Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations', European Journal of Human Genetics, vol. 23, no. 9, pp. 1176-85. https://doi.org/10.1038/ejhg.2014.253

Schlagwörter: Developmental/complications, Adult, Male, 0301 basic medicine, INTELLECTUAL DISABILITY, Tooth Abnormalities/complications, Adolescent, Genotype, Autism Spectrum Disorder, DNA Mutational Analysis, Gene Expression, Intellectual Disability/complications, PATIENT, Chromosomes, Article, 03 medical and health sciences, Intellectual Disability, Genetics, Humans, MICRODELETION, Genetics(clinical), Abnormalities, Multiple, Exome, Preschool, Child, 10. No inequality, EMC MGC-02-96-01, Repressor Proteins/genetics, Bone Diseases, Developmental, 0303 health sciences, IDENTIFICATION, Multiple/diagnosis, Pair 16, MUTATIONS, DELETION, Facies, Middle Aged, GENOME, Phenotype, Child, Preschool, Female, Abnormalities, Bone Diseases, Chromosomes, Human, Pair 16, Gene Deletion, Autism Spectrum Disorder/complications, Human

Dateibeschreibung: application/pdf

Zugangs-URL: https://www.nature.com/articles/ejhg2014253.pdf
https://pubmed.ncbi.nlm.nih.gov/25424714
http://www.rug.nl/research/portal/publications/further-delineation-of-the-kbg-syndrome-phenotype-caused-by-ankrd11-aberrations(a202a781-de27-49c6-bc42-93963faa49d9)/export.html
https://www.nature.com/articles/ejhg2014253.pdf
https://www.narcis.nl/publication/RecordID/oai%3Apure.amc.nl%3Apublications%2F284c861a-ca3b-40b4-ab9f-5d79727955d8
https://research.rug.nl/en/publications/further-delineation-of-the-kbg-syndrome-phenotype-caused-by-ankrd
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25424714/
https://research.vumc.nl/en/publications/b7864660-b3a5-461e-b51c-65ec8f0c2787
https://dspace.library.uu.nl/handle/1874/332047
https://hdl.handle.net/1887/105737

Factors Related to the Impact of Chronically Disabled Children on Their Families

Autoren: Şimşek, I.E. Erel, Suat Şimşek, T.T. et al.

Quelle: Pediatric Neurology. 50:255-261

Schlagwörter: Male, Children with Disabilities, Turkey, Child, Chronic Disease, Consanguinity, Cost of Illness, Disabled Children, Educational Status, Family, Female, Humans, Income, Intellectual Disability/complications, Mothers, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, chronically disabled children, childhood disability, 10. No inequality, caregiver, family-centered services, 1. No poverty, family impact, 3. Good health

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/24417936
https://www.pedneur.com/article/S0887-8994(13)00675-9/fulltext
http://europepmc.org/abstract/MED/24417936
https://www.ncbi.nlm.nih.gov/pubmed/24417936
https://khepri-node.dev.meta-infra.org/papers/factors-related-to-the-impact-of-chronically/24417936
https://www.sciencedirect.com/science/article/pii/S0887899413006759
https://hdl.handle.net/11499/7414
https://doi.org/10.1016/j.pediatrneurol.2013.11.012
https://avesis.deu.edu.tr/publication/details/5e79c3e5-2878-4d32-aeda-271cf024fc60/oai
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/7414

Polyunsaturated fatty acid-enriched diet therapy for a child with epilepsy

Autoren: Jae Hwan Lee Eun Joo Lee Heung Dong Kim et al.

Weitere Verfasser: Jae Hwan Lee Eun Joo Lee Heung Dong Kim et al.

Quelle: Brain and Development. 36:163-166

Schlagwörter: Male, Mitochondrial Diseases, Infantile/diagnosis, Plant Oils/therapeutic use, Intellectual Disability/complications, Intellectual Disability/diet therapy, Spasms, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Humans, Plant Oils, Unsaturated/therapeutic use, Child, Mitochondrial Diseases/complications, Olive Oil, Ketogenic, Epilepsy, Lennox Gastaut Syndrome, Fatty Acids, Intellectual Disability/diagnosis, Ketogenic diet, Diet, 3. Good health, Treatment Outcome, Fatty Acids, Unsaturated, Polyunsaturated fatty acids, Diet, Ketogenic, Infantile/complications, Infantile/diet therapy, Spasms, Infantile

Dateibeschreibung: 163~166

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/23465587
https://www.sciencedirect.com/science/article/pii/S038776041300082X
http://www.sciencedirect.com/science/article/pii/S038776041300082X
https://pubmed.ncbi.nlm.nih.gov/23465587/
https://www.ncbi.nlm.nih.gov/pubmed/23465587
https://yonsei.pure.elsevier.com/en/publications/polyunsaturated-fatty-acid-enriched-diet-therapy-for-a-child-with
https://ir.ymlib.yonsei.ac.kr/handle/22282913/97981