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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	Infant
Concept	Sudden Infant Death
Concept	Infant Nutritional Physiological Phenomena
Concept	Infant, Newborn
Concept	Infant Formula
Academic Article	Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis.
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	Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
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	Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
Academic Article	Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
Academic Article	Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene.
Academic Article	Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
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	Developmental profiles of infants with an FMR1 premutation.
Academic Article	Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Academic Article	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Academic Article	Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.
Academic Article	Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death 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	Newborn, carrier, and early childhood screening recommendations for fragile X.
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	[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
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	Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).
Academic Article	HTR2A variation and sudden infant death syndrome: a case-control analysis.
Academic Article	Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.
Academic Article	Genetic variation in the HTR1A gene and sudden infant death syndrome.
Academic Article	Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.
Academic Article	Sudden Infant Death Syndrome: review of implicated genetic factors.
Academic Article	Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
Academic Article	Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome.
Academic Article	3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis.
Academic Article	In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
Academic Article	Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Academic Article	Carnitine levels and the ketogenic diet.
Academic Article	New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry.
Academic Article	X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus.
Academic Article	Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
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	Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
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	Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
Academic Article	Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation.
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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Infant