Lista de obras -

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Creatine and guanidinoacetate reference values in a French population

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado el 1 de octubre de 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).

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Lista de obras de

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