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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	Phenotype
Academic Article	Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
Academic Article	Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype?
Academic Article	New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Academic Article	X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.
Academic Article	Neuropathic features in fragile X premutation carriers.
Academic Article	New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.
Academic Article	Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
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	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	Fibroblast phenotype in male carriers of FMR1 premutation alleles.
Academic Article	Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
Academic Article	Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.
Academic Article	Autism and fragile X syndrome.
Academic Article	The challenges of clinical trials in fragile X syndrome.
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	Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice.
Academic Article	Variable human phenotype associated with novel deletions of the PHOX2B gene.
Academic Article	Monozygotic twins discordant for ROHHAD phenotype.
Academic Article	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
Academic Article	Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Academic Article	Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
Academic Article	An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Academic Article	Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
Academic Article	Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
Academic Article	Neurological and endocrine phenotypes of fragile X carrier women.
Academic Article	A review of fragile X premutation disorders: expanding the psychiatric perspective.
Academic Article	X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article	Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Academic Article	Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
Academic Article	Altered steady state and activity-dependent de novo protein expression in fragile X syndrome.
Academic Article	Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
Academic Article	Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.
Academic Article	Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
Academic Article	A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Academic Article	Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Academic Article	Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Academic Article	Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Academic Article	Updated consensus guidelines on the management of Phelan-McDermid syndrome.
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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