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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, 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-?-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.
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.

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Child Preschool