Browse Items (13 total)
- Tags: Genotype
Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
Tags: 2017, abdominal bloating, Adult, Article, autonomic dysfunction, bloating, breath holding, breath-holding, breathing difficulties, breathing disorder, Breathing disorders, breathing pattern, Caregiver, characteristics, Child, Data Base, Developmental Disability, Downs J, Epstein A, Female, Genotype, Heyworth J, Human, hyperventilation, International database, Journal of Neurodevelopmental Disorders, Leonard H, MacKay J, Male, mecp2, Mutation, Noninvasive Ventilation, onset age, oxygen, Priority Journal, Questionnaire, Rare disorder, rebreathing, Rett syndrome, School Child, Trajectory, Wong K
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Tags: 2011, Adams H, Adolescent, Adult, Analysis of Variance, Augustine E F, Beck C A, Child, Child Preschool, Cialone J, Cross-sectional Studies, Deblieck E A, Disabled Persons, Disease Progression, Dure L S, Genotype, Homozygote, Humans, Kwon J M, Levy E, Marshall F J, Membrane Glycoproteins, Mink J W, Molecular Chaperones, Mutation, NCL3, Neurology, Neuronal Ceroid-Lipofuscinoses, Neuropsychological Tests, Newhouse N J, Prospective Studies, Ramirez-Montealegre D, Regression Analysis, Reproducibility of Results, Rose K R, Rothberg P G, scale development, tone and motor problems, tool development, UBDRS, Vierhile A, Young Adult
Sleep alterations in juvenile neuronal ceroid-lipofuscinosis
Tags: 2000, Adolescent, Adult, Age Factors, Brain, Case-Control Studies, characteristics, Child, Female, Genotype, Hamalainen M, Humans, Kirveskari E, Larsen A, Male, NCL3, Neuronal Ceroid-Lipofuscinoses, Partinen M, Pediatric Neurology, Polysomnography, Sainio K, Salmi T, Santavuori P, Severity Of Illness Index, Sleep REM, sleep disturbance/disorders, Sleep Stages, Sleep Wake Disorders, Telakivi T, Trajectory
Level of purposeful hand function as a marker of clinical severity in Rett syndrome
Tags: 2010, Adolescent, Adult, Age Factors, Bebbington A, characteristics, Child, Child Preschool, Cross-sectional Studies, Databases as Topic, Developmental Medicine and Child Neurology, Downs J, Female, Genotype, Ghosh S, Hand, Humans, Jacoby P, Kaufmann W E, Leonard H, Methyl-CpG-Binding Protein 2, Motor Activity, Mutation, Phenotype, Registries, Rett syndrome, Severity Of Illness Index, tone and motor problems, Trajectory, Video Recording, Walking, Williams A, Young Adult
Stereotypical Hand Movements in 144 Subjects with Rett Syndrome from the Population-Based Australian Database
Tags: 2010, Bebbington A, Behavior, Carter P, characteristics, Downs J, features, females, Genotype, hand function, hand stereotypies, Jacoby P, Kaufmann W E, Leonard H, mecp2 mutations, Movement Disorders, Neurosciences & Neurology, Phenotype, Rett syndrome, severity, stereotypic movement disorder, tone and motor problems, Trajectory, Video Recording, Williams S
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
Tags: 0 (Methyl-CpG-Binding Protein 2), 2016, Adolescent, Adult, American Journal of Medical Genetics Part A, Anderson B, Boban S, characteristics, Child, Child Preschool, Downs J, Epilepsy/di [diagnosis], Epilepsy/ge [Genetics], Epstein A, Genetic Association Studies, Genotype, Humans, Infant, Infant Newborn, Leonard H, Methyl-CpG-Binding Protein 2/ge [Genetics], Middle Aged, Murphy N, Mutation, Phenotype, Rett syndrome, Rett Syndrome/di [Diagnosis], Rett Syndrome/ge [Genetics], Rett Syndrome/pp [Physiopathology], Severity Of Illness Index, sleep disturbance/disorders, Sleep Wake Disorders/di [Diagnosis], Sleep Wake Disorders/ge [Genetics], Trajectory, Wong K, Young Adult
Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5
Tags: 2015, Abraham S S, characteristics, Classical Rett syndrome, Deglutition, Disorders, Djukic A, dysfunction, Dyskinesia, dysmotility, Dysphagia, Dystonia, Early Pseudostationary stage, feeding difficulties, Fluoroscopy, Genotype, girls, mecp2 mutations, Otorhinolaryngology, Phenotype, Rett syndrome, Swallowing, Taragin B, tone and motor, Trajectory, Videofluoroscopic study of swallowing, Women
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
Tags: 2008, Acetyltransferases/chemistry/deficiency/genetics, Adolescent, Adult, Age of Onset, Backlog, Child, DNA Mutational Analysis, DNA/genetics, Durand S, Female, Genotype, Humans, Infant, Journal Article, Male, Middle Aged, Missense, Models, Molecular, Molecular Genetics and Metabolism, Mucopolysaccharidosis III/classification/enzymology/genetics/physiopathology, Mutation, Netherlands, Phenotype, Poorthuis BJ, Preschool, Pshezhetsky AV, Q3 Scoping Review Results, Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, van Diggelen OP, Wevers RA, Wijburg FA
Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
Tags: 2007, Accommodation, Acta Ophthalmologica, Adolescent, Adult, Apraxias/diagnosis, Ataxia Telangiectasia/diagnosis, Backlog, Bek T, Capillaries/pathology, Child, Conjunctiva/blood supply, Conjunctival Diseases/diagnosis, Female, Genotype, Heiberg A, Humans, Journal Article, Lindman C, Male, Norway, Ocular, Ocular Motility Disorders/diagnosis, Phenotype, Photography, Preschool, Prospective Studies, Q3 Scoping Review Results, Riise R, Rodningen OK, Saccades, Stray-Pedersen A, Ygge J
The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study.
Tags: 2004, Adolescent, Adult, Backlog, Blood Cell Count, Child, Desnick RJ, Disease Progression, Female, Genotype, Hossain S, Humans, Hypersplenism/etiology, Journal Article, Lamm C, Leukopenia/etiology, Lipids/blood, Liver/physiopathology, Longitudinal Studies, Male, McGovern MM, Middle Aged, Niemann-Pick Diseases/blood/complications/genetics/physiopathology, Pediatrics, Phenotype, Preschool, Q3 Scoping Review Results, Respiratory Physiology, Schuchman EH, Splenomegaly/etiology, Thrombocytopenia/etiology, Wallenstein S, Wasserstein MP
Pharmacogenetics of codeine metabolism in an urban population of children and its implications for analgesic reliability
Tags: 2002, Analgesia, Analgesics, Anti-Inflammatory Agents, Backlog, British Journal Of Anaesthesia, Central Nervous System Stimulants/blood, Child, Codeine/genetics/metabolism, Diclofenac/administration & dosage, Double-Blind Method, Female, Genotype, Howard RF, Human, Journal Article, Male, Morphine Derivatives/blood, Morphine/metabolism, Non-Steroidal/administration & dosage, Non-U.S. Gov't, Opioid/metabolism, Patel A, Phenotype, Preschool, Support, Tonsillectomy, Urban Population, Vomiting/chemically induced, Williams DG
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype
Tags: 2001, Adolescent, Adult, Archives of Disease in Childhood, Ataxia/genetics/metabolism, Atrophy/genetics/metabolism, Backlog, Carbohydrate-Deficient Glycoprotein Syndrome/genetics/metabolism, Cephalometry, Cerebellum/pathology, Child, Developmental Disabilities/genetics/metabolism, Facies, Failure to Thrive/genetics/metabolism, Female, Genotype, Glycosylation, Growth Disorders/genetics/metabolism, Humans, Infant, Journal Article, Kjaergaard S, Liver Function Tests, Male, Newborn, Phenotype, Preschool, Prognosis, Q3 Scoping Review Results, Schwartz M, Seizures/genetics/metabolism, Skovby F
Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)
Tags: 2001, Animal, Backlog, Child, Chromosome Mapping, Current Opinion in Neurology, Genetic, Genotype, Human, Infant, Journal Article, Membrane Proteins/genetics, Mitchison HM, Models, Mole SE, Neuronal Ceroid-Lipofuscinosis/diagnosis/genetics/therapy, Phenotype, Phosphoprotein Phosphatase/genetics, Proteins/genetics