List of works - Caroline Michot

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

scientific article published on 24 December 2015

Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia.

scientific article published on 11 August 2014

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

scientific article published on 25 March 2013

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts

scientific article

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scholarly article published in European Journal of Human Genetics

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

scientific article

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

article published in 2014

Fatal rhabdomyolysis in 2 children with LPIN1 mutations

scientific article published on 04 April 2012

Finger creases lend a hand in Kabuki syndrome.

scientific article

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

scientific article published on 14 June 2016

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

scientific article published in July 2010

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

scientific article

Myhre syndrome

scientific article published on 02 April 2014

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

scientific article published on 11 September 2013

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Sleep-disordered breathing and its management in children with achondroplasia.

scientific article published on 27 February 2017

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

article by Caroline Michot et al published 6 April 2012 in Journal of Inherited Metabolic Disease

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

scientific article

List of works by Caroline Michot

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Fatal rhabdomyolysis in 2 children with LPIN1 mutations

Finger creases lend a hand in Kabuki syndrome.

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Myhre syndrome

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

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Sleep-disordered breathing and its management in children with achondroplasia.

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing