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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	Sleep Apnea, Central
Concept	Sleep Apnea Syndromes
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: Neurocognition Already Reduced in Preschool-Aged Children.
Academic Article	A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
Academic Article	Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
Academic Article	Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
Academic Article	Variable human phenotype associated with novel deletions of the PHOX2B gene.
Academic Article	Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
Academic Article	[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	Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.
Academic Article	Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
Academic Article	PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
Academic Article	Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
Academic Article	Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
Academic Article	TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
Academic Article	Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Academic Article	Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.

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Apnea