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List of works by Marc Jeanpierre

A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf

An ancient founder mutation in PROKR2 impairs human reproduction

scientific article

Bases moléculaires des dystrophies musculaires progressives à transmission autosomique récessive

article

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

scientific article published in PLoS ONE

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

scientific article published in October 2002

FSHD1 and FSHD2 form a disease continuum

scientific article published on 12 April 2019

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.

scientific article published in September 2002

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

scientific article published on October 1, 2003

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

scientific article

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

scientific article

Involvement of the modifier gene of a human Mendelian disorder in a negative selection process

scientific article

Mutation history of the roma/gypsies

scientific article

Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

scientific article published on 01 January 2006

Permanent muscle weakness in McArdle disease

scientific article published in September 2009

Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population

scientific article published on 01 August 2005

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

scientific article published on 8 August 2007

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

scientific article published on 01 June 2004

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans

scientific article published in March 2010

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

scientific article published on 31 May 2017

The inspection paradox and whole-genome analysis

scientific article published on January 2008

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

scientific article published on 01 October 2005

[BRCA1: from the gene identification to the cancer risk estimation]

scientific article published on 01 March 2004

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