List of works - Delphine Trochet

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

scientific article

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

scientific article published on 15 December 2017

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

scientific article

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

scientific article published in June 2005

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

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

scientific article

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

scientific article

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).

scientific article published in May 2008

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

scientific article

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

scientific article

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

scientific article published on 31 August 2007

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

scientific article

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

scientific article published on 27 January 2006

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

scientific article published in October 2004

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

scientific article

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

scientific article published on 13 December 2007

PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

scientific article published in October 2006

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

scientific article

Polyalanine expansions in human

scientific article published in October 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

scientific article published on 24 August 2007

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

scientific article published on 13 September 2016

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

scientific article published on 14 April 2015

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

scientific article published on 12 August 2015

List of works by 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