Browse Items (32 total)
- Tags: Phenotype
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Tags: 2020, Aged, Agrawal PB, Beggs AH, Bodamer O, Copenheaver D, Critical Illness, exome sequencing, Exome/genetics, Genetic Testing, Genetics in Medicine, Genetti CA, Gold NB, Gubbels CS, Humans, Infant, Infant Newborn, Intensive Care Unit, June 2021 List, Juusola J, Madden JA, Neonates, Parad RB, Phenotype, Prospective Studies, Roumiantsev S, Stoler J, VanNoy GE, Whole Exome Sequencing, Wojcik MH, Yang S, Yu TW
Autism traits in children and adolescents with Cornelia de Lange syndrome
Tags: 2014, Aberrant Behavior Checklist, adaptive behavior, Adolescent, Adult, Age, American Journal of Medical Genetics Part A, Article, Autism, behavior disorder, Behavioral phenotype, behavioral problems, characteristics, Checklist, Child, Childhood Autism Rating Scale, Clark B, Clinical Article, Communication, communication disorder, compulsion, Cornelia de Lange syndrome, daily life activity, De Lange syndrome, Diagnosis, Disease Severity, Emotion, Female, Grados M A, Human, hyperactivity, Intellectual Impairment, Interpersonal Communication, Irritability, Kline A D, Landy-Schmitt C, Language, lethargy, limb, maladjustment, Male, Phenotype, Priority Journal, psychological rating scale, Rating Scale, Repetitive behaviors, rigidity, Skill, social cognition, Socialization, Specht M, Srivastava S, stereotypy, Trajectory, Verbal Communication, Vineland Adaptive Behaviors Scales
Self-injurious behaviour in Cornelia de Lange syndrome: 2. association with environmental events
Tags: 2009, Arron K, behavioral problems, behavioural phenotype, brachmann-delange syndrome, Children, Cornelia de Lange syndrome, De Lange syndrome, demand denial no contact, descriptive analysis, Education & Educational Research, Environment, environmental conditions, functional-analysis, Genetics & Heredity, Hall S, INDIVIDUALS, Intervention, Journal Of Intellectual Disability Research, Neurology, Neurosciences &, Oliver C, Phenomenology, Phenotype, prader-willi syndrome, Prevalence, Psychiatry, psychological intervention, Rehabilitation, self-injurious behaviour, self-injury, Sloneem J, social reinforcement, Symptoms
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology
Tags: 2009, Arron K, behavioral problems, behavioural phenotype, brachmann-delange syndrome, characteristics, compulsive behaviors, compulsive behaviour, Cornelia de Lange syndrome, De Lange syndrome, Education & Educational Research, Genetics & Heredity, Hall S, hyperactivity, INDIVIDUALS, Intellectual disabilities, Journal Of Intellectual Disability Research, maladaptive behavior, mental-retardation, mutilative behavior, Neurology, Neurosciences &, Oliver C, People, Phenotype, prader-willi-syndrome, Psychiatry, rating-scale, Rehabilitation, repetitive behaviour, self-injurious behaviour, Sloneem J, stereotyped behaviour, stereotyped disorders, Trajectory
Behavioural phenotype of Cornelia de Lange syndrome: case-control study
Tags: 2008, Adolescent, Adult, Arron K, Autistic Disorder/psychology, behavioral problems, Case-Control Studies, characteristics, Child, Child Preschool, Communication Disorders/psychology, Compulsive Behavior/psychology, De Lange syndrome, De Lange Syndrome/psychology, Female, global behavior disorder, Hall S, Humans, Male, Oliver C, Phenotype, Sloneem J, Surveys And Questionnaires, The British Journal of Psychiatry, Trajectory, Young Adult
Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome
Tags: 2006, American Journal on Mental Retardation, Arron K, assessments, behavioral problems, brachmann-delange syndrome, Children, Communication, De Lange syndrome, Education & Educational Research, evaluate aberrant behavior, Forman D, functional-analysis, Hall S, McClintock K, mutilative behavior, Oliver C, Phenotype, Rehabilitation, self injurious behavior, self-injury, skills, Sloneem J, trajectory characteristics
Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome
Tags: 2017, angelman-syndrome, behavioral problems, bowel incontinence, characteristics, Children, Constipation, Curfs L, Education & Educational Research, Einfeld S, enuresis, Equit M, features, fecal incontinence, hirschsprungs-disease, Mowat D, Mowat-Wilson syndrome, Niemczyk J, Phenotype, psychopathology, Rehabilitation, Research in Developmental Disabilities, Trajectory, urinary incontinence, urinary-incontinence, von Gontard A, Wagner C
The prevalence and phenomenology of repetitive behavior in genetic syndromes
Tags: 2009, Adolescent, Adult, Angelman Syndrome/epidemiology/psychology, Arron K, behavioral problems, Berg K, Burbidge C, characteristics, Child, Child Preschool, Cri-du-chat, Cri-du-Chat Syndrome/epidemiology/psychology, De Lange syndrome, De Lange Syndrome/epidemiology/psychology, Female, Fragile X Syndrome/epidemiology/psychology, Humans, Intellectual Disability/epidemiology/genetics/psychology, Journal of Autism and Developmental Disorders, London, Male, Middle Aged, Moss J, Oliver C, Phenotype, Prader-Willi Syndrome/epidemiology/psychology, Prevalence, repetitive behavior, Stereotyped Behavior, Surveys And Questionnaires, Syndrome, tone and motor problems, Trajectory, Young Adult
Cornelia de Lange Syndrome: Correlation of Brain MRI Findings With Behavioral Assessment
Tags: 2016, aberrant behavior, American Journal of Medical Genetics Part C - Seminars in Medical Genetics, Autism spectrum disorder, Behavior, behavioral problems, Brain, characteristics, Checklist, Clemens J, Cornelia de Lange syndrome, De Lange syndrome, functional connectivity, Genetics & Heredity, Grados M A, hypoplasia, INDIVIDUALS, Kimball A, Kliewer M A, Kline A D, Lal T R R, Lopes T, mental-retardation, MRI, mutations, neuroanatomy, nipped-b, O'Connor J, Phenotype, Rebsamen S L, Trajectory
Development of a video-based evaluation tool in Rett syndrome
Tags: 2007, Adolescent, Adult, Burford B, Child, Diagnosis Differential, Downs J, Ellaway C, Feasibility Studies, feeding difficulties, Female, filming and coding protocol, Fyfe S, Humans, Journal of Autism and Developmental Disorders, Kaufmann W E, Laurvick C L, Leonard H, Lister J, Male, McIlroy O, Movement Disorders/diagnosis/etiology, Msall M, Phenotype, Philippe C, Reilly S, Rett syndrome, Rett Syndrome/complications/diagnosis, scale development, tone and motor problems, tool development, Videotape Recording
Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk
Tags: 2002, 22q11.2 Deletion Syndrome, Adolescent, Adult, behavioral problems, Biological Psychiatry, Blasey C, characteristics, Child, Child Behavior Disorders/genetics/psychology, Chromosome Deletion, Chromosomes Human Pair 22/genetics, Cognition Disorders/genetics/psychology, Comorbidity, Developmental Disabilities/genetics/psychology, Eliez S, Feinstein C, Female, Humans, Male, Mental Disorders/genetics/psychology, Phenotype, Reiss A L, Risk Factors, Schizophrenia/genetics, 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
Deep Brain Stimulation in Rare Inherited Dystonias
Tags: 2016, Adolescent, Adult, Aged, Aquino C C, Article, ataxia telangiectasia, ataxia telangiectasia/di [Diagnosis], ataxia telangiectasia/dt [Drug Therapy], atypical dopa responsive dystonia/di [Diagnosis], atypical dopa responsive dystonia/dt [Drug Therapy], Baclofen/dt [drug Therapy], Beaulieu-Boire I, benzodiazepine derivative/dt [Drug Therapy], Brain Depth Stimulation, Brain Stimulation, Burke Fahn Marsden Dystonia Rating Scale, cerebellar ataxia/di [Diagnosis], cerebellar ataxia/dt [Drug Therapy], Child, chorea/di [Diagnosis], chorea/dt [Drug Therapy], Clinical Article, clinical assessment, Clinical Effectiveness, clobazam/dt [Drug Therapy], clonazepam/dt [Drug Therapy], deep brain stimulation, diazepam/dt [Drug Therapy], disease duration, Disease Severity, Dystonia, dystonia/di [Diagnosis], dystonia/dt [Drug Therapy], Dystonic Disorder/su [surgery], dystonic disorder/th [Therapy], entacapone/cb [Drug Combination], entacapone/dt [Drug Therapy], escitalopram/dt [Drug Therapy], extrapyramidal syndrome/di [Diagnosis], extrapyramidal syndrome/dt [Drug Therapy], Fallis M, Fasano A, Follow Up, gabapentin/dt [Drug Therapy], haloperidol/dt [Drug Therapy], Hodaie M, Human, Inherited dystonia, Kalia S K, Lang A E, levodopa/dt [Drug Therapy], lorazepam/dt [Drug Therapy], Lozano A, MCM deficiency, methylmalonic aciduria/di [Diagnosis], methylmalonic aciduria/dt [Drug Therapy], Middle Aged, mirtazapine/dt [Drug Therapy], Moro E, motor dysfunction assessment, NCL, Nemaline myopathy, nemaline myopathy/di [Diagnosis], nemaline myopathy/dt [Drug Therapy], neuronal ceroid lipofuscinosis/di [Diagnosis], neuronal ceroid lipofuscinosis/dt [Drug Therapy], olanzapine/dt [Drug Therapy], outcome assessment, Phenotype, Poon Y Y, pramipexole/cb [Drug Combination], pramipexole/dt [Drug Therapy], Preoperative Care, Priority Journal, Rating Scale, risperidone/dt [Drug Therapy], School Child, selegiline/cb [Drug Combination], selegiline/dt [Drug Therapy], Surgery, surgical intervention, tetrabenazine/dt [Drug Therapy], therapy effect, time to treatment, tizanidine/dt [Drug Therapy], tone and motor problems, trazodone/dt [Drug Therapy], Treatment, trihexyphenidyl/cb [Drug Combination], trihexyphenidyl/dt [Drug Therapy], Trisomy/di [diagnosis], trisomy/dt [Drug Therapy], Wilson disease/di [Diagnosis], Wilson disease/dt [Drug Therapy], woodhouse sakati syndrome/di [Diagnosis], woodhouse sakati syndrome/dt [Drug Therapy], x trisomy/di [Diagnosis], x trisomy/dt [Drug Therapy]
Longitudinal Course of Cognitive, Adaptive, and Behavioral Characteristics in Costello Syndrome
Tags: 2009, American Journal of Medical Genetics Part A, Axelrad M E, behavioral, characteristics, cognitive, costello syndrome, Disability, features, Fehlis J E, functioning, Genetics & Heredity, Gripp K W, Hopkins E, HRAS, longitudinal assessment, MAP kinase pathway, p.G12A, p.G12S, p.G13C, p.T581, Phenotype, Schwartz D D, Sol-Church K, Stabley D L, tone and motor, Trajectory
Communication, Cognitive Development and Behavior in Children With Cornelia de Lange Syndrome (CdLS): Preliminary Results
Tags: 2014, AAC (augmentative and alternative communication), ability, Ajmone P F, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, autistic behavior, Behavior, behavioral symptoms, brachmann-delange syndrome, CdLS, Cereda A, characteristics, Costantino A, Dall'Ara F, De Lange syndrome, delange cornelia, externalizing behavior, Genetics & Heredity, INDIVIDUALS, intellectual disability (ID), language-skills, Milani D, Monti F, morphosyntactic, normal intelligence, Phenotype, Psychiatry, Rigamonti C, Selicorni A, tone and motor, Trajectory, Vizziello P
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 prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
Tags: 2008, Adolescent, Adult, Backlog, Child, Connock MJ, Demography, England/epidemiology, Humans, Journal Article, Kaplan-Meier Estimate, Lavery C, Medical, Moore D, Mucopolysaccharidosis I/epidemiology/mortality/physiopathology, Orphanet Journal Of Rare Diseases, Phenotype, Prevalence, Registries, Societies, Wales/epidemiology, Wraith E
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
Tags: 2005, Acyl-CoA Dehydrogenase, Andresen BS, Backlog, Bischoff C, Bonham JR, Cardiomyopathies/diagnosis/genetics, Carnitine/analogs & derivatives/metabolism, Chakrapani A, Clark S, Downing M, Exons, Fatty Acids/metabolism, Fibroblasts/metabolism, Gregersen N, Homozygote, Humans, Inborn Errors/diagnosis/genetics, Journal Article, Journal Of Inherited Metabolic Disease, Lipid Metabolism, Long-Chain/deficiency, Longitudinal Studies, Male, Manning NJ, Mitochondria/pathology, Multienzyme Complexes/deficiency, Muntoni F, Mutation, Olpin SE, Olsen RK, Phenotype, Polyneuropathies/diagnosis/genetics, Pourfarzam M, Prognosis, Rhabdomyolysis/diagnosis/genetics, Sharrard M, Turnbull DN
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations
Tags: 2005, Akman HO, Backlog, Bonilla E, Cytochrome-c Oxidase Deficiency/complications/genetics/pathology, De Vivo DC, DiMauro S, DNA Mutational Analysis, Female, Frameshift Mutation, Humans, Infant, Journal Article, Journal of Child Neurology, Kidney Diseases/etiology, Leigh Disease/complications/genetics/pathology, Male, Membrane Proteins, Mitochondrial Proteins, Morales A, Morales JF, Muscle, Newborn, Phenotype, Proteins/genetics, Q3 Scoping Review Results, Sacconi S, Shanske S, Skeletal/pathology, Tay SK
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Tags: 2004, Admiraal RJ, Adolescent, Adult, American Journal Of Medical Genetics.Part A, Backlog, Barth PG, Child, Cohort Studies, de Klerk JB, Developmental Disabilities/pathology, Duran M, Eye Diseases/pathology, Face/abnormalities, Female, Follow-up Studies, Gootjes J, Growth Disorders/pathology, Humans, Infant, Journal Article, Kidney/pathology, Liver/pathology, Male, Membrane Proteins/genetics, Mutation, Peroxisomal Disorders/genetics/mortality/pathology, Phenotype, Poll-The BT, Preschool, Q3 Scoping Review Results, Seizures/pathology, Spleen/pathology, Survival Rate, Time Factors, Wanders RJ, Waterham HR, Wenniger-Prick LJ
Prevalence and progression of mitochondrial diseases: a study of 50 patients
Tags: 2003, Adolescent, Adult, Age of Onset, Aged, Arenas J, Arpa J, Arpa-Fernandez A, Backlog, Campos Y, Chronic Progressive External/ep [Epidemiology], Chronic Progressive External/ge [Genetics], Chronic Progressive External/pa [Pathology], Cruz-Martinez A, Del Hoyo P, Disease Progression, DNA, Electromyography, Epilepsies, Female, Garcia-Rio F, Gutierrez-Molina M, Humans, IM, Journal Article, Lactic Acid/bl [Blood], Male, Martin MA, MELAS Syndrome/ep [Epidemiology], MELAS Syndrome/ge [Genetics], MELAS Syndrome/pa [Pathology], Middle Aged, Mitochondrial Diseases/ep [Epidemiology], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/pa [Pathology], Mitochondrial/ge [Genetics], Muscle, Muscle & Nerve, Myoclonic/ep [Epidemiology], Myoclonic/ge [Genetics], Myoclonic/pa [Pathology], Neural Conduction/ph [Physiology], Ophthalmoplegia, Perez-Conde C, Phenotype, Rubio JC, Skeletal/pa [Pathology], Spain/ep [Epidemiology], Survival Analysis
Beta endorphin concentrations in PBMC of patients with different clinical phenotypes of multiple sclerosis
Tags: 2003, Adult, Backlog, beta-Endorphin/blood/genetics, Biomarkers of Pain, Brain/pathology, Comi G, Female, Filippi M, Furlan R, Gironi M, Humans, Journal Article, Journal Of Neurology, Neurosurgery, And Psychiatry, Leukocytes, Magnetic Resonance Imaging, Male, Middle Aged, Mononuclear/chemistry, Multiple Sclerosis/blood/genetics/pathology, Panerai AE, Phenotype, Rovaris M, Sacerdote P
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
Peroxisomal disorders
Tags: 2001, Adrenoleukodystrophy/diagnosis/genetics/physiopathology, Adult, Backlog, Brain/physiopathology, Central Nervous System Diseases/diagnosis/genetics/physiopathology, Child, Current Opinion in Neurology, Female, Humans, Journal Article, Male, Neurologic Examination, Peroxisomal Disorders/diagnosis/genetics/physiopathology, Peroxisomes/genetics/physiology, Phenotype, Raymond GV, Spinal Cord/physiopathology
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