List of works - Sophie Monnot

DNA extraction by FTA technology: application for rapid detection of 1p/19q deletions in gliomas.

scientific article

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

scientific article published in May 2014

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

scientific article

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome

scientific article published on 01 July 2007

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

scientific article published on 29 September 2015

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

scientific article

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

scientific article published on 11 September 2013

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

scientific article published in May 2008

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

scientific article

Prévenir la transmission des mutations de l’ADN mitochondrial : mythe ou réalité ?

article

Re: Agarwal et al Stylomandibular fusion that complicates recurrent bilateral ankylosis of the temporomandibular joint

scientific article published on 28 April 2016

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

scientific article published in May 2009

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene

scientific article published on 01 January 2005

[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene]

scientific article published on 01 May 2005

[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].

scientific article published on 14 April 2017

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

scientific article

List of works by Sophie Monnot

DNA extraction by FTA technology: application for rapid detection of 1p/19q deletions in gliomas.

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

Prévenir la transmission des mutations de l’ADN mitochondrial : mythe ou réalité ?

Re: Agarwal et al Stylomandibular fusion that complicates recurrent bilateral ankylosis of the temporomandibular joint

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene

[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene]

[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development