Lista de obras - Delphine Trochet - Dominio Público Uruguay

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.

artículo científico publicado en 2008

Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy

artículo científico publicado en 2017

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

artículo científico publicado en 2012

Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant

artículo científico publicado en 2005

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

artículo científico publicado en 2007

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

artículo científico publicado en 2004

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

article

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

artículo científico publicado en 2008

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.

artículo científico publicado en 2017

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

artículo científico publicado en 2009

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

artículo científico publicado en 2007

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

artículo científico publicado en 2005

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

artículo científico publicado en 2006

PHOX2B gene mutation in a patient with late-onset central hypoventilation

artículo científico publicado en 2004

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

artículo científico publicado en 2005

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome

artículo científico publicado en 2007

PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

artículo científico publicado en 2006

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

artículo científico publicado en 2003

Polyalanine expansions in human

artículo científico publicado en 2004

Polyalanine expansions might not result from unequal crossing-over

article by Delphine Trochet et al published 2007 in Human Mutation

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

artículo científico publicado en 2007

Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing

artículo científico publicado en 2016

Telomere regulation during ageing and tumorigenesis of the grey mouse lemur.

artículo científico publicado en 2015

Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls

artículo científico

Lista de obras de Delphine Trochet

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.

Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

PHOX2B gene mutation in a patient with late-onset central hypoventilation

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome

PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Polyalanine expansions in human

Polyalanine expansions might not result from unequal crossing-over

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing

Telomere regulation during ageing and tumorigenesis of the grey mouse lemur.

Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls