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Search Results to Elizabeth Berry-Kravis

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

Item TypeName
Concept Child, Preschool
Academic Article New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
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 Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
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 Intrathecal 2-hydroxypropyl-ß-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Academic Article Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
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 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 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 Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
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 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 Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
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 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 TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
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 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 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 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.

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  • Child Preschool