Výsledky vyhľadávania - "Developmental Disabilities etiology"

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Autori: Wright, C.F. Quaife, N.M. Ramos-Hernández, L. a ďalší

Prispievatelia: Wright, C.F. Quaife, N.M. Ramos-Hernández, L. a ďalší

Zdroj: Genomics England Research Consortium 2021, 'Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094. https://doi.org/10.1016/j.ajhg.2021.04.025

Predmety: 0301 basic medicine, DNA Copy Number Variations, Developmental Disabilities, 5' UTR variants, clinical genetic testing, Whole Exome Sequencing, Cohort Studies, 03 medical and health sciences, 5' Untranslated Regions, Loss of Function Mutation, Exome Sequencing, Humans, developmental disorders, Genetic Predisposition to Disease, Child, 5', 11 Medical and Health Sciences, Developmental Disabilities/*etiology/pathology, Genetics & Heredity, 0303 health sciences, MEF2 Transcription Factors, developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants, 06 Biological Sciences, MEF2 Transcription Factors/genetics, Genomics England Research Consortium, UTR variants, non-coding region variants

Popis súboru: application/pdf

Prístupová URL adresa: http://www.cell.com/article/S0002929721001841/pdf
https://pubmed.ncbi.nlm.nih.gov/34022131
https://eprints.whiterose.ac.uk/174965/3/MEF2Cmanuscript_AJHG_resub_March2021_clean_CW.pdf
https://research.manchester.ac.uk/en/publications/81b6b315-c593-4fd0-a42b-8130ce2b2a63
https://doi.org/10.1016/j.ajhg.2021.04.025
https://www.research.manchester.ac.uk/portal/en/publications/noncoding-variants-upstream-of-mef2c-cause-severe-developmental-disorder-through-three-distinct-lossoffunction-mechanisms(b986d5b5-cf30-4ae8-bcda-466d0771a76d).html
https://www.well.ox.ac.uk/publications/1146301
https://eprints.whiterose.ac.uk/174965/
https://www.cell.com/ajhg/fulltext/S0002-9297(21)00184-1
https://www.sciencedirect.com/science/article/pii/S0002929721001841
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206381
http://hdl.handle.net/10044/1/89704
https://ora.ox.ac.uk/objects/uuid:7de35748-f5d9-4198-87a1-5a081a7efe15
https://doi.org/10.1016/j.ajhg.2021.04.025
https://research.manchester.ac.uk/en/publications/81b6b315-c593-4fd0-a42b-8130ce2b2a63
https://doi.org/10.1016/j.ajhg.2021.04.025
https://eprints.whiterose.ac.uk/174965/

Growth and Intellectual Abilities of Six-Year-Old Children with Congenital Heart Disease.

Autori: Heye, K.N. Rousson, V. Knirsch, W. a ďalší

Prispievatelia: Heye, K.N. Rousson, V. Knirsch, W. a ďalší

Predmety: Cardiopulmonary Bypass/methods, Child, Child Development, Preschool, Cohort Studies, Developmental Disabilities/epidemiology, Developmental Disabilities/etiology, Female, Heart Defects, Congenital/complications, Congenital/surgery, Humans, Infant, Intellectual Disability/epidemiology, Intellectual Disability/etiology, Male, Prospective Studies, Risk Factors, growth trajectories, head growth, neurodevelopmental outcome

Relation: The Journal of pediatrics; https://iris.unil.ch/handle/iris/85451; serval:BIB_3E47D63394D7; 000453785200006

Dostupnosť: https://iris.unil.ch/handle/iris/85451
https://doi.org/10.1016/j.jpeds.2018.08.060

Cohort and Individual Neurodevelopmental Stability between 1 and 6 Years of Age in Children with Congenital Heart Disease.

Autori: Naef, N. Wehrle, F. Rousson, V. a ďalší

Predmety: Child, Child Development, Preschool, Cognition/physiology, Developmental Disabilities/epidemiology, Developmental Disabilities/etiology, Developmental Disabilities/physiopathology, Disease Progression, Female, Follow-Up Studies, Heart Defects, Congenital/complications, Congenital/surgery, Humans, Incidence, Infant, Male, Prognosis, Retrospective Studies, Risk Factors, Switzerland/epidemiology, Time Factors, cohort studies, congenital, developmental disabilities/classification, neuropsychological test

Relation: The Journal of pediatrics; https://iris.unil.ch/handle/iris/62717; serval:BIB_5FFE18FD8212; 000498003100016

Dostupnosť: https://iris.unil.ch/handle/iris/62717
https://doi.org/10.1016/j.jpeds.2019.08.036

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

Autori: Thomas Smol Frédéric Tran-Mau-Them Roger L. Ladda a ďalší

Zdroj: The American Journal of Human Genetics. 104:1040-1059

Predmety: Male, 0301 basic medicine, Homöobox, Developmental Disabilities, RNA Splicing, Mikrozephalie, Heterogeneous-Nuclear Ribonucleoproteins/genetics, Whole Exome Sequencing, Heterogeneous-Nuclear Ribonucleoproteins, Entwicklungsstörung, 03 medical and health sciences, Exome Sequencing, Humans, Preschool, Child, RNA Splicing/genetics, Spleißosom, Fibroblasts/metabolism, 0303 health sciences, Homeobox/genetics, Genes, Homeobox, Infant, Fibroblasts, Oxidative Stress, Phenotype, Developmental Disabilities/etiology, Genes, Gene Expression Regulation, Krampfanfall, Child, Preschool, Mutation, Female

Prístupová URL adresa: http://www.cell.com/article/S000292971930120X/pdf
https://pubmed.ncbi.nlm.nih.gov/31079900
https://pubmed.ncbi.nlm.nih.gov/31079900/
https://www.cell.com/ajhg/fulltext/S0002-9297(19)30120-X
https://www.ncbi.nlm.nih.gov/pubmed/31079900
https://europepmc.org/article/MED/31079900
https://www.sciencedirect.com/science/article/abs/pii/S000292971930120X
https://research.vumc.nl/en/publications/hnrnpr-variants-that-impair-homeobox-gene-expression-drive-develo

The role of early-onset-sepsis in the neurodevelopment of very low birth weight infants

Autori: Ortgies, Tjark Rullmann, Michael Ziegelhöfer, Dorothée a ďalší

Zdroj: BMC Pediatr
BMC Pediatrics, Vol 21, Iss 1, Pp 1-13 (2021)

Predmety: 2. Zero hunger, Research, Developmental Disabilities, Neurodevelopment, Early-onset-Sepsis, Infant, Newborn, Infant, Infant, Newborn [MeSH], Female [MeSH], Developmental Disabilities/epidemiology [MeSH], Humans [MeSH], Cohort Studies [MeSH], Chorioamnionitis/diagnosis [MeSH], Preterm, Infant [MeSH], Sepsis/diagnosis [MeSH], Chorioamnionitis/epidemiology [MeSH], Developmental Disabilities/diagnosis [MeSH], Infant, Very Low Birth Weight [MeSH], VLBW, Child [MeSH], Pregnancy [MeSH], Developmental Disabilities/etiology [MeSH], Pediatrics, RJ1-570, 3. Good health, Cohort Studies, 03 medical and health sciences, Chorioamnionitis, 0302 clinical medicine, Pregnancy, Sepsis, Humans, Infant, Very Low Birth Weight, Female, Child, 10. No inequality

Prístupová URL adresa: https://bmcpediatr.biomedcentral.com/track/pdf/10.1186/s12887-021-02738-5
https://pubmed.ncbi.nlm.nih.gov/34172028
https://doaj.org/article/f014daa1c53843ca801a3ecb977b01e4
https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-021-02738-5
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8229301
https://www.mendeley.com/catalogue/4298ac27-3e9f-35eb-b62a-23f08f4b1d0f/
https://link.springer.com/content/pdf/10.1186/s12887-021-02738-5.pdf
https://pubmed.ncbi.nlm.nih.gov/34172028/
http://www.ncbi.nlm.nih.gov/pubmed/34172028
https://repository.publisso.de/resource/frl:6462419

Impaired muscle growth precedes development of increased stiffness of the triceps surae musculotendinous unit in children with cerebral palsy

Autori: Maria Willerslev‐Olsen Mai Choe Lund Jakob Lorentzen a ďalší

Zdroj: Developmental Medicine & Child Neurology. 60:672-679

Predmety: Male, Biomedical and clinical sciences, Developmental Disabilities, Pediatrics, Severity of Illness Index, Contractures, 0302 clinical medicine, Elastic Properties, Skeletal/diagnostic imaging, Range of Motion, Articular, Child, 10. No inequality, Ultrasonography, 2. Zero hunger, Medial Gastrocnemius-Muscle, Perinatology, Phasic Stretch Reflex, and Child Health, Developmental Disabilities/etiology, Child, Preschool, Muscle, Female, Spasticity, Muscle Rigidity/diagnostic imaging, Life Sciences & Biomedicine, Range of Motion, Length, Clinical Neurology, Ankle Joint Stiffness, 2806 Developmental Neuroscience, 03 medical and health sciences, Humans, Preschool, Muscle, Skeletal, Science & Technology, Electromyography, Cerebral Palsy/complications, Cerebral Palsy, Infant, Newborn, Infant, Newborn, Multiple-Sclerosis, Muscle Rigidity, Electromyographic Responses, Biceps-Brachii, 2735 Pediatrics, Neurosciences & Neurology, 2728 Clinical Neurology, Articular/physiology

Prístupová URL adresa: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/dmcn.13729
https://pubmed.ncbi.nlm.nih.gov/29573407
https://core.ac.uk/display/156884451
https://www.onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.13729
https://espace.library.uq.edu.au/view/UQ:724881
https://pubmed.ncbi.nlm.nih.gov/29573407/
https://onlinelibrary.wiley.com/doi/10.1111/dmcn.13729
https://www.ncbi.nlm.nih.gov/pubmed/29573407

Analysis of the correlation between deformational plagiocephaly and neurodevelopmental delay

Autori: Mohammed Ahmed Hussein Taeyong Woo In Sik Yun a ďalší

Prispievatelia: Mohammed Ahmed Hussein Taeyong Woo In Sik Yun a ďalší

Zdroj: Journal of Plastic, Reconstructive & Aesthetic Surgery. 71:112-117

Predmety: Male, Brachycephaly, Deformational plagiocephaly, Plagiocephaly, Nonsynostotic, Plagiocephaly, Developmental Disabilities, Infant, Developmental Disabilities/etiology, Severity of Illness Index, Nonsynostotic/complications, The mental development index, Neurodevelopmental delay, 03 medical and health sciences, 0302 clinical medicine, Child, Preschool, Humans, Female, Child, Preschool, Retrospective Studies

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/28958569
https://pubmed.ncbi.nlm.nih.gov/28958569/
https://www.sciencedirect.com/science/article/abs/pii/S1748681517303418
https://ir.ymlib.yonsei.ac.kr/handle/22282913/165269
https://www.ncbi.nlm.nih.gov/pubmed/28958569
http://scholar.cu.edu.eg/sites/default/files/drmohammedhussein/files/analysis_of_the_correlation_between_deformational_plagiocephaly_and_neurodevelopment_delay_original_paper.pdf
https://www.jprasurg.com/article/S1748-6815(17)30341-8/fulltext

Relation of Retinopathy of Prematurity to Brain Volumes at Term Equivalent Age and Developmental Outcome at 2 Years of Corrected Age in Very Preterm Infants

Autori: Lois E.H. Smith Petra Susan Hüppi Ann Hellström a ďalší

Zdroj: Neonatology, Vol. 114, No 1 (2018) pp. 46-52

Predmety: Male, Developmental Disabilities, Gestational Age, Brain/diagnostic imaging/growth & development, 03 medical and health sciences, Child Development, 0302 clinical medicine, Humans, Retinopathy of Prematurity, Longitudinal Studies, ddc:618, Infant, Newborn, Brain, Infant, Newborn, Magnetic Resonance Imaging, White Matter, White Matter/diagnostic imaging/growth & development, Developmental Disabilities/etiology, Extremely Premature/growth & development, Infant, Extremely Premature, Linear Models, Female, Retinopathy of Prematurity/complications

Popis súboru: application/pdf

Prístupová URL adresa: https://www.karger.com/Article/Pdf/487847
https://pubmed.ncbi.nlm.nih.gov/29649829
https://www.ncbi.nlm.nih.gov/pubmed/29649829
https://europepmc.org/abstract/MED/29649829
https://core.ac.uk/display/157572964
https://pubmed.ncbi.nlm.nih.gov/29649829/
https://portal.research.lu.se/en/publications/relation-of-retinopathy-of-prematurity-to-brain-volumes-at-term-e
https://lup.lub.lu.se/record/36fa131a-852b-45bc-ae8f-3fdb2b8eb590
https://archive-ouverte.unige.ch/unige:128635

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice

Autori: Stroobants, Stijn Van Acker, Nathalie G.G. Verheijen, Frans W. a ďalší

Prispievatelia: Stroobants, Stijn Van Acker, Nathalie G.G. Verheijen, Frans W. a ďalší

Zdroj: Experimental Neurology. 291:106-119

Predmety: 0301 basic medicine, Oligodendrocyte lineage, Lysosomal-Associated Membrane Protein 1/metabolism, Intermediate Filaments/metabolism, Developmental Disabilities, GENOTYPE-PHENOTYPE CORRELATION, Intermediate Filaments, Organic Anion Transporters, Myelination, Mice, Symporters/deficiency, Leukoencephalopathies, BRAIN, Sialin, 0303 health sciences, Symporters, CNS MYELINATION, Mental Disorders, Age Factors, Brain, Gene Expression Regulation, Developmental, Glial Fibrillary Acidic Protein/metabolism, MOUSE MODEL, Developmental Disabilities/etiology, Neurology, Mental Disorders/etiology, ACID STORAGE DISEASES, GENE REGULATORY FACTOR, Life Sciences & Biomedicine, Leukoencephalopathies/complications, mice, OLIGODENDROCYTE LINEAGE PROGRESSION, EMC OR-01, Mice, Transgenic, Development, Mouse model, 03 medical and health sciences, Developmental Neuroscience, Lysosomal-Associated Membrane Protein 1, Sialic acid storage disease, Glial Fibrillary Acidic Protein, Brain/metabolism, Animals, Behavior, Science & Technology, Neurology & Neurosurgery, CENTRAL-NERVOUS-SYSTEM, TRANSPORTER, Neurosciences, Sialic Acid Storage Disease, 1103 Clinical Sciences, Mice, Inbred C57BL, Disease Models, Animal, Animals, Newborn, 1701 Psychology, 5202 Biological psychology, 3209 Neurosciences, Sialic Acid Storage Disease/complications, Organic Anion Transporters/deficiency, Neurosciences & Neurology, 1109 Neurosciences, Gene Expression Regulation, Developmental/genetics, SALLA-DISEASE

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/28189729
https://pure.eur.nl/en/publications/68ae9c0c-283b-4799-9c0f-b13ccc594094
https://doi.org/10.1016/j.expneuro1.2017.02.009
https://www.narcis.nl/publication/RecordID/oai%3Arepub.eur.nl%3A98085
https://pubmed.ncbi.nlm.nih.gov/28189729/
https://repub.eur.nl/pub/98085/REPUB_98085_OA.pdf
https://europepmc.org/abstract/MED/28189729
https://core.ac.uk/display/86183035
https://www.sciencedirect.com/science/article/pii/S0014488617300432
https://lirias.kuleuven.be/handle/123456789/578606
https://doi.org/10.1016/j.expneurol.2017.02.009
https://biblio.vub.ac.be/vubir/progressive-leukoencephalopathy-impairs-neurobehavioral-development-in-sialindeficient-mice(cf2a813a-f874-4be6-a192-769079c41267).html

Perinatal arterial ischemic stroke related to carotid artery occlusion

Autori: Fluss, Joel Victor Garcia-Tarodo, Stephanie Granier, Michèle a ďalší

Zdroj: European Journal of Paediatric Neurology, Vol. 20, No 4 (2016) pp. 639-48

Predmety: Carotid Artery Diseases, Male, Developmental Disabilities, Placenta, Arterial Occlusive Diseases, Placenta/pathology, Brain Ischemia, 03 medical and health sciences, Intellectual Disability/etiology, Stroke/diagnostic imaging/etiology, 0302 clinical medicine, Cerebral Palsy/etiology, Pregnancy, Risk Factors, Intellectual Disability, Humans, Carotid Arteries/diagnostic imaging, Arterial Occlusive Diseases/complications/diagnostic imaging, Carotid Artery Diseases/complications/diagnostic imaging, ddc:618, Cerebral Palsy, Infant, Newborn, Brain, Brain/diagnostic imaging, Brain Ischemia/diagnostic imaging/etiology, Cerebral Angiography, 3. Good health, Stroke, Epilepsies, Partial/etiology, Carotid Arteries, Developmental Disabilities/etiology, Female, Epilepsies, Partial, Magnetic Resonance Angiography

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/27025300
https://www.ncbi.nlm.nih.gov/pubmed/27025300
https://www.sciencedirect.com/science/article/pii/S1090379816000519
https://archive-ouverte.unige.ch/unige:96870
https://pubmed.ncbi.nlm.nih.gov/27025300/
https://core.ac.uk/display/77156630
http://europepmc.org/abstract/MED/27025300
https://archive-ouverte.unige.ch/unige:96870

The Effects of the Severity of Periventricular Leukomalacia on the Neuropsychological Outcomes of Preterm Children

Autori: Eun Sook Park Ja Young Choi Dong-Wook Rha a ďalší

Prispievatelia: Eun Sook Park Ja Young Choi Dong-Wook Rha a ďalší

Zdroj: Journal of Child Neurology. 31:603-612

Predmety: Cognition Disorders/diagnosis, Adult, Male, Cognition Disorders/etiology, Periventricular/diagnostic imaging, Adolescent, social adaptive function, Image Processing, Developmental Disabilities, Leukomalacia, Periventricular, Child Behavior, Gestational Age, Developmental Disabilities/etiology, Neuropsychological Tests, Cognition Disorders/diagnostic imaging, Premature Birth/psychology, Outcome Assessment (Health Care), Young Adult, 03 medical and health sciences, Computer-Assisted, 0302 clinical medicine, intellectual ability, Outcome Assessment, Health Care, Image Processing, Computer-Assisted, Humans, Epilepsy/etiology, Social Behavior, Child, Neurologic Examination, Developmental Disabilities/diagnostic imaging, Epilepsy, Brain, Periventricular/etiology, Brain/diagnostic imaging, Premature Birth/physiopathology, Magnetic Resonance Imaging, 3. Good health, Logistic Models, periventricular leukomalacia, Premature Birth, Female, preterm, Cognition Disorders, Leukomalacia

Popis súboru: 603~612

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/26385973
https://pubmed.ncbi.nlm.nih.gov/26385973/
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146552
http://journals.sagepub.com/doi/pdf/10.1177/0883073815604229
https://journals.sagepub.com/doi/abs/10.1177/0883073815604229
https://www.ncbi.nlm.nih.gov/pubmed/26385973
http://europepmc.org/abstract/MED/26385973

Ocena sprawności funkcjonalnej u dzieci z mózgowym porażeniem dziecięcym

Autori: Muszyńska, Marta

Predmety: Speech disorders, Zaburzenia mowy, intellectual disability, Spastyczność mięśniowa, Dzieci, Muscle spasticity, Porażenie mózgowe dziecięce - klasyfikacja, Zaburzenia rozwoju dziecka - etiopatogeneza, Cerebral palsy - classification, Developmental disabilities - etiology, Child, Niepełnosprawność intelektualna

Routine developmental, autism, behavioral, and psychological screening in epilepsy care settings

Autori: Breanne Fisher Catherine Dezort Anne T. Berg a ďalší

Prispievatelia: Breanne Fisher Catherine Dezort Anne T. Berg a ďalší

Zdroj: Developmental Medicine & Child Neurology. 56:1100-1105

Predmety: Male, Autistic Disorder/etiology, Cognitive Dysfunction/diagnosis, Adolescent, Developmental Disabilities/diagnosis, Mass Screening, Developmental Disabilities, Child Behavior Disorders, Child Behavior Disorders/diagnosis, 03 medical and health sciences, 0302 clinical medicine, Epilepsy/complications, Surveys and Questionnaires, Autistic Disorder/diagnosis, Humans, Cognitive Dysfunction/etiology, Cognitive Dysfunction, Autistic Disorder, Preschool, Child, 10. No inequality, Referral and Consultation, Epilepsy, 4. Education, Child Behavior Disorders/etiology, Reproducibility of Results, 3. Good health, Developmental Disabilities/etiology, 13. Climate action, Child, Preschool, Epilepsy/psychology, Female

Popis súboru: 1100~1105

Prístupová URL adresa: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/dmcn.12497
https://pubmed.ncbi.nlm.nih.gov/24861272
https://ir.ymlib.yonsei.ac.kr/handle/22282913/139053
https://ir.ymlib.yonsei.ac.kr/bitstream/22282913/139053/1/T201406136.pdf
https://onlinelibrary.wiley.com/doi/full/10.1111/dmcn.12497
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.12497
http://www.ncbi.nlm.nih.gov/pubmed/24861272
https://www.scholars.northwestern.edu/en/publications/routine-developmental-autism-behavioral-and-psychological-screeni

Parental functioning improves the developmental quotient of pediatric liver transplant recipients

Autori: Posfay Barbe, Klara Barbe, Remy Wetterwald, Renata a ďalší

Zdroj: Pediatric Transplantation, Vol. 17, No 4 (2013) pp. 355-61

Predmety: Male, Parents, Developmental Disabilities, Mothers, Neuropsychological Tests, ddc:616.89, 03 medical and health sciences, Child Development, 0302 clinical medicine, Humans, Child, Liver Failure/complications/therapy, Intelligence Tests, ddc:618, Age Factors, Infant, Mothers/psychology, Mother-Child Relations, Liver Transplantation, 3. Good health, Treatment Outcome, Developmental Disabilities/etiology, Motor Skills, 616.89, Child, Preschool, Female, Liver Failure, Parents/psychology

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/23586400
https://europepmc.org/abstract/MED/23586400
https://www.ncbi.nlm.nih.gov/pubmed/23586400
https://archive-ouverte.unige.ch/unige:35214
https://onlinelibrary.wiley.com/doi/10.1111/petr.12080
https://core.ac.uk/display/60886410
https://archive-ouverte.unige.ch/unige:35214
https://archive-ouverte.unige.ch/unige:35214
https://doi.org/10.1111/petr.12080

Developmental Assessment of Infants With Biliary Atresia: Differences Between Boys and Girls

Autori: Caudle, Susan E Katzenstein, Jennifer M Karpen, Saul a ďalší

Zdroj: Journal of Pediatric Gastroenterology and Nutrition, Vol. 55, No 4 (2012) pp. 384-9

Predmety: Male, Language Development Disorders/etiology, Developmental Disabilities, Growth, Biliary Atresia/complications/psychology, Bilirubin/blood, 03 medical and health sciences, Child Development, Cognition, Sex Factors, 0302 clinical medicine, Biliary Atresia, Motor Skills/physiology, Humans, Language Development Disorders, Vision, Ocular, Language, ddc:618, Visual Perception/physiology, Infant, Bilirubin, Body Height, Liver Transplantation, Developmental Disabilities/etiology, Motor Skills, Visual Perception, Female

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/22516863
http://www.ncbi.nlm.nih.gov/pubmed/22516863
https://pubmed.ncbi.nlm.nih.gov/22516863/
https://archive-ouverte.unige.ch/unige:31407
https://jhu.pure.elsevier.com/en/publications/developmental-assessment-of-infants-with-biliary-atresia-differen
http://europepmc.org/abstract/MED/22516863
https://archive-ouverte.unige.ch/unige:31407

Is Confrontation Naming Performance in Alzheimer’s Disease the Nominal Linguistic Retrogenesis of Normal Development?

Autori: Young H. Sohn HyangHee Kim Duk L. Na a ďalší

Prispievatelia: Young H. Sohn HyangHee Kim Duk L. Na a ďalší

Zdroj: European Neurology. 66:195-199

Predmety: Cognition Disorders/diagnosis, Male, Cognition Disorders/etiology, Adolescent, Developmental Disabilities, Developmental Disabilities/etiology, Neuropsychological Tests, Severity of Illness Index, Vocabulary, 03 medical and health sciences, Elderly, 0302 clinical medicine, Alzheimer Disease, Alzheimer Disease/complications, Linguistics, Humans, Names, 0501 psychology and cognitive sciences, Preschool, Child, Verbal Learning/physiology, Children, Confrontation naming, Retrogenesis, 05 social sciences, Age Factors, Verbal Learning, Case-Control Studies, Child, Preschool, Regression Analysis, Female, Cognition Disorders, Alzheimer's disease

Popis súboru: 195~199

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/21912136
https://ir.ymlib.yonsei.ac.kr/handle/22282913/93620
https://www.karger.com/Article/Abstract/331172
https://www.ncbi.nlm.nih.gov/pubmed/21912136
http://europepmc.org/abstract/MED/21912136

Clinical characteristics of patients with non‐specific and non‐categorized mitochondrial diseases

Autori: Joon Soo Lee Yun Jin Lee Heung Dong Kim a ďalší

Prispievatelia: Joon Soo Lee Yun Jin Lee Heung Dong Kim a ďalší

Zdroj: Acta Paediatrica. 98:1825-1829

Predmety: Male, Lactic/etiology, Mitochondrial Proteins/metabolism, Mitochondrial Diseases, Adolescent, Respiratory chain complex, Developmental Disabilities, Mitochondrial Diseases/pathology, Seizures/etiology, Mitochondrial Proteins, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Seizures, Brain/metabolism, Neuromuscular system, Humans, Preschool, Child, Retrospective Studies, Muscles/metabolism, Brain/pathology, Mitochondrial Diseases/metabolism, Muscles, Brain, Infant, Magnetic Resonance Imaging, Mitochondria, 3. Good health, Developmental Disabilities/etiology, Mitochondrial Proteins/genetics, Child, Preschool, Acidosis, Lactic, Female, Muscles/pathology, Acidosis, Mitochondrial Diseases/complications

Popis súboru: 1825~1829

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/19659453
https://yonsei.pure.elsevier.com/en/publications/clinical-characteristics-of-patients-with-non-specific-and-non-ca
https://ir.ymlib.yonsei.ac.kr/handle/22282913/104904
https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1651-2227.2009.01428.x
https://www.ncbi.nlm.nih.gov/pubmed/19659453

Neurodevelopmental outcome at 2 years for preterm children born at 22 to 34 weeks’ gestation in France in 2011: EPIPAGE-2 cohort study

Autori: Pierrat, Veronique Marchand-Martin, Laetitia Arnaud, Catherine a ďalší

Prispievatelia: Pierrat, Veronique Marchand-Martin, Laetitia Arnaud, Catherine a ďalší

Zdroj: ISSN: 0959-8138.

Predmety: MESH: Blindness/epidemiology, Blindness/etiology, Cerebral Palsy/epidemiology, Cerebral Palsy/etiology, Child, Preschool, Developmental Disabilities/epidemiology, Developmental Disabilities/etiology, Female, Follow-Up Studies, France/epidemiology, Gestational Age, Hearing Loss/epidemiology, Hearing Loss/etiology, Humans, Infant, Extremely Premature, Premature, Diseases/epidemiology, Diseases/mortality, Diseases/physiopathology, Male, Outcome Assessment (Health Care), Prospective Studies, Survivors, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics

Relation: info:eu-repo/semantics/altIdentifier/pmid/28814566; PRODINRA: 492360; PUBMED: 28814566

Dostupnosť: https://inserm.hal.science/inserm-01610207
https://inserm.hal.science/inserm-01610207v1/document
https://inserm.hal.science/inserm-01610207v1/file/bmj.j3448.full.pdf
https://doi.org/10.1136/bmj.j3448

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

Autori: Luisa Bonafé Olivier Boulat Gajja S. Salomons a ďalší

Zdroj: Gygax, M J, Roulet-Perez, E, Meagher-Villemure, K, Jakobs, C A J, Salomons, G S, Boulat, O, Superti-Furga, A, Ballhausen, D & Bonafe, L 2009, 'Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria', European Journal of Pediatrics, vol. 168, no. 8, pp. 957-962. https://doi.org/10.1007/s00431-008-0869-9
European Journal of Pediatrics, vol. 168, no. 8, pp. 957-962

Predmety: Family Health, 0301 basic medicine, Developmental Disabilities, Brain Diseases, Metabolic, Inborn/complications, Brain Diseases, Metabolic, Inborn/drug therapy, Child, Death, Sudden/etiology, Death, Sudden/pathology, Developmental Disabilities/etiology, Female, Glutarates/urine, Humans, Infant, Magnetic Resonance Imaging, Sudden Infant Death/etiology, Sudden Infant Death/pathology, Brain Diseases, Metabolic, Inborn, Glutarates, Death, Sudden, 03 medical and health sciences, 0302 clinical medicine, Sudden Infant Death

Popis súboru: application/pdf

Prístupová URL adresa: https://serval.unil.ch/resource/serval:BIB_E40482F93A01.P001/REF.pdf
https://pubmed.ncbi.nlm.nih.gov/19005678
https://research.vumc.nl/ws/files/176226/237743.pdf
https://research.vumc.nl/en/publications/sudden-unexpected-death-in-an-infant-with-l-2-hydroxyglutaric-aci
https://www.narcis.nl/publication/RecordID/oai%3Apure.atira.dk%3Apublications%2F320831f9-833c-4d84-b148-8ccc7d06ab03
https://europepmc.org/article/MED/19005678
https://serval.unil.ch/notice/serval:BIB_E40482F93A01
https://link.springer.com/article/10.1007/s00431-008-0869-9/fulltext.html
https://research.vumc.nl/en/publications/320831f9-833c-4d84-b148-8ccc7d06ab03
https://hdl.handle.net/1871/28677
https://serval.unil.ch/resource/serval:BIB_E40482F93A01.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E40482F93A015
https://serval.unil.ch/notice/serval:BIB_E40482F93A01
http://doc.rero.ch/record/310611/files/431_2008_Article_869.pdf

Natural History of Brain Lesions in Extremely Preterm Infants Studied With Serial Magnetic Resonance Imaging From Birth and Neurodevelopmental Assessment

Autori: Dyet, L. E. Kennea, N. Counsell, S. J. a ďalší

Zdroj: Pediatrics. 118:536-548

Predmety: Developmental Disabilities, Gestational Age, Infant, Premature, Diseases, Pathologic/etiology/pathology Female Fetal Growth Retardation/pathology Follow-Up Studies Gestational Age Humans Infant Infant, Basal Ganglia, Cerebral Ventricles, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Premature Infant, Humans, Premature, Cerebral Hemorrhage, Periventricular/etiology/pathology London/epidemiology *Magnetic Resonance Imaging Male Neuropsychological Tests Severity of Illness Index, Fetal Growth Retardation, Cerebral Palsy, Small for Gestational Age Intensive Care Units, Newborn Infant, Infant, Newborn, Brain, Infant, Cerebral Infarction, 3. Good health, Neonatal Leukomalacia, Diseases/*pathology Infant, Infant, Small for Gestational Age, Chronic/etiology/*pathology Cerebral Hemorrhage/etiology/pathology Cerebral Infarction/etiology/pathology Cerebral Palsy/epidemiology/etiology Cerebral Ventricles/pathology Cohort Studies Developmental Disabilities/etiology/*pathology Dilatation, Brain Damage, Chronic, Female, Infant, Premature, Basal Ganglia/pathology Brain/*pathology Brain Damage, Dilatation, Pathologic, Follow-Up Studies

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/16882805
https://pubmed.ncbi.nlm.nih.gov/16882805/
https://pediatrics.aappublications.org/lookup/doi/10.1542/peds.2005-1866
https://europepmc.org/article/MED/16882805
https://core.ac.uk/display/29924362
https://publications.aap.org/pediatrics/article/118/2/536/69025/Natural-History-of-Brain-Lesions-in-Extremely
https://pediatrics.aappublications.org/content/118/2/536