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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeIn Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilationA human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expressionGermline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastomaPHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.Telomere regulation during ageing and tumorigenesis of the grey mouse lemur.Polyalanine expansions in human.Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusReprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing.Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls.Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.PHOX2B gene mutation in a patient with late-onset central hypoventilation.PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction SyndromePolyalanine expansions might not result from unequal crossing-overGermline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Delphine Trochet
@ast
Delphine Trochet
@en
Delphine Trochet
@es
Delphine Trochet
@sl
type
label
Delphine Trochet
@ast
Delphine Trochet
@en
Delphine Trochet
@es
Delphine Trochet
@sl
prefLabel
Delphine Trochet
@ast
Delphine Trochet
@en
Delphine Trochet
@es
Delphine Trochet
@sl
P106
P21
P31
P496
0000-0002-9216-6117