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Berry-Kravis, Elizabeth

One or more keywords matched the following items that are connected to Berry-Kravis, Elizabeth

Item Type	Name
Concept	Child
Concept	Parent-Child Relations
Concept	Child Development
Concept	Child Nutritional Physiological Phenomena
Concept	Child, Preschool
Concept	Child Development Disorders, Pervasive
Concept	Child Behavior Disorders
Academic Article	New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Academic Article	Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome.
Academic Article	Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
Academic Article	Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy.
Academic Article	Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.
Academic Article	Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
Academic Article	Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial.
Academic Article	Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
Academic Article	Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.
Academic Article	Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome.
Academic Article	Cholesterol levels in fragile X syndrome.
Academic Article	Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
Academic Article	Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Academic Article	Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.
Academic Article	FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
Academic Article	The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.
Academic Article	Intrathecal 2-hydroxypropyl-?-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Academic Article	Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.
Academic Article	Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes.
Academic Article	Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.
Academic Article	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Academic Article	Fragile X syndrome: a review of associated medical problems.
Academic Article	The challenges of clinical trials in fragile X syndrome.
Academic Article	Outcome measures for clinical trials in fragile X syndrome.
Academic Article	Development of an expressive language sampling procedure in fragile X syndrome: a pilot study.
Academic Article	CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article	MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article	Newborn, carrier, and early childhood screening recommendations for fragile X.
Academic Article	Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial.
Academic Article	Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS).
Academic Article	Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey.
Academic Article	Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
Academic Article	Variable human phenotype associated with novel deletions of the PHOX2B gene.
Academic Article	Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.
Academic Article	Autonomic regulation in fragile X syndrome.
Academic Article	Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome.
Academic Article	Seizures in fragile X syndrome: characteristics and comorbid diagnoses.
Academic Article	An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Academic Article	Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
Academic Article	Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
Academic Article	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
Academic Article	In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
Academic Article	Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
Academic Article	Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.
Academic Article	Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder.
Academic Article	Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Academic Article	A review of fragile X premutation disorders: expanding the psychiatric perspective.
Academic Article	A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome.
Academic Article	Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome.
Academic Article	Characterization of potential outcome measures for future clinical trials in fragile X syndrome.
Academic Article	Epilepsy in fragile X syndrome.
Academic Article	Carnitine levels and the ketogenic diet.
Academic Article	Cyclic AMP metabolism in fragile X syndrome.
Academic Article	Fragile X syndrome in a normal IQ male with learning and emotional problems.
Academic Article	Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome.
Academic Article	Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
Academic Article	X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article	Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
Academic Article	Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Academic Article	Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome.
Academic Article	Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
Academic Article	Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.
Academic Article	Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.
Academic Article	Mutation update for the SATB2 gene.
Academic Article	Preventive care services and health behaviors in children with fragile X syndrome.
Academic Article	Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.
Academic Article	Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.
Academic Article	Toilet Training in Fragile X Syndrome.
Academic Article	Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
Academic Article	Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.
Academic Article	Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Academic Article	Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.
Academic Article	Validation of the NIH Toolbox Cognitive Battery in intellectual disability.
Academic Article	Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
Academic Article	Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity.
Academic Article	TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
Academic Article	Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-?-cyclodextrin injection.
Academic Article	Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
Academic Article	Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults.
Academic Article	A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome.
Academic Article	Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
Academic Article	Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Academic Article	Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers.
Academic Article	Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling.
Academic Article	Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation.
Academic Article	Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.
Academic Article	A novel measure of matching categories for early development: Item creation and pilot feasibility study.
Academic Article	Normative database of postural sway measures using inertial sensors in typically developing children and young adults.
Academic Article	Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome.
Academic Article	Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.
Academic Article	Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial.
Academic Article	Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.
Academic Article	Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome.
Academic Article	Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.
Academic Article	Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives.
Academic Article	Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C.
Academic Article	The association between expressive language skills and adaptive behavior in individuals with Down syndrome.
Academic Article	A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).
Academic Article	Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability.
Academic Article	FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.
Academic Article	Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder.
Academic Article	The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.
Academic Article	Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.

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