List of works - Francois Cartault

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

scientific article

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB

scientific article published on 01 June 2003

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

scientific article

Complete mitochondrial sequences for haplogroups M23 and M46: insights into the Asian ancestry of the Malagasy population

scientific article

Creatine and guanidinoacetate reference values in a French population

scientific article published on 16 September 2013

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

scientific article

Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island ⬇️

scientific article published on October 1, 2003

Genetic data analysis of 10 Y-STR loci in two ethnic groups of Asian ancestry (Gujarat and Guangdong-Fujian provinces) from Reunion Island (Indian Ocean).

scientific article

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia

scientific article

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

scientific article published on 04 November 2018

Inter- and extra-Indian admixture and genetic diversity in reunion island revealed by analysis of mitochondrial DNA.

scientific article

Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

scientific article published on 01 February 2010

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

scientific article published on 12 March 2012

Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

scientific article published on 01 October 2009

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

scientific article published on 13 December 2012

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

scientific article

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

scientific article published on 2 December 2015

Toward male individualization with rapidly mutating y-chromosomal short tandem repeats

scientific article

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

scientific article published on 24 July 2019

mtDNA polymorphisms in five French groups: importance of regional sampling

scientific article (publication date: April 2004)

List of works by Francois Cartault

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Complete mitochondrial sequences for haplogroups M23 and M46: insights into the Asian ancestry of the Malagasy population

Creatine and guanidinoacetate reference values in a French population

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island ⬇️

Genetic data analysis of 10 Y-STR loci in two ethnic groups of Asian ancestry (Gujarat and Guangdong-Fujian provinces) from Reunion Island (Indian Ocean).

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

Inter- and extra-Indian admixture and genetic diversity in reunion island revealed by analysis of mitochondrial DNA.

Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Toward male individualization with rapidly mutating y-chromosomal short tandem repeats

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

mtDNA polymorphisms in five French groups: importance of regional sampling