Jeanpierre, Marc
Marc Jeanpierre researcher
VIAF ID: 211851740 (Personal)
Permalink: http://viaf.org/viaf/211851740
Preferred Forms
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- 100 1 _ ‡a Jeanpierre, Marc
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- 100 0 _ ‡a Marc Jeanpierre ‡c researcher
Works
Title | Sources |
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An ancient founder mutation in PROKR2 impairs human reproduction | |
Bases moléculaires des dystrophies musculaires progressives à transmission autosomique récessive | |
[BRCA1: from the gene identification to the cancer risk estimation] | |
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds | |
Etude des mutations de la myopathie facio-scapulo-humérale | |
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin | |
Exercices et problèmes de biochimie | |
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. | |
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf | |
Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island | |
FSHD1 and FSHD2 form a disease continuum | |
Génétique médicale : formelle, chromosomique, moléculaire, clinique | |
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients | |
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. | |
The inspection paradox and whole-genome analysis | |
Involvement of the modifier gene of a human Mendelian disorder in a negative selection process | |
Méthylation de l'ADN et régulation transcriptionnelle : ontogène de l'empreinte au cours de la spermatogénèse et conséquences sur l'architecture de l'hétérochromatine constitutive | |
Mutation history of the roma/gypsies | |
Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency | |
Permanent muscle weakness in McArdle disease. | |
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example | |
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families | |
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans | |
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. | |
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy |