Annick Toutain

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 392 citations

Biology, Pcnt Results, Developmental Biology +10

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Valérie Belin, Véronica Cusin, Géraldine Viot et al. · Nature Genetics · 1998 · 356 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up

Denis Duboc, Christophe Meune, Bertrand Pierre et al. · American Heart Journal · 2007 · 345 citations

Perindopril Preventive Treatment, Duchenne Muscular Dystrophy, Degenerative Disease +3

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 327 citations

Genetics, Pathology, Molecular Genetics +17

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Robert Lyle, Frédérique Béna, Sarantis Gagos et al. · European Journal of Human Genetics · 2008 · 325 citations · Full text

Down Syndrome, Array Cgh, Cytogenetics +6