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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 Sleep Apnea, Central
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).

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  • Apnea