Marie Christine de Blois

Pure partial trisomy of the short arm of chromosome 5

Marie Odile Rethoré, Marie Christine de Blois, Marie Peeters et al. · Human Genetics · 1989 · 89 citations

Chromatin, Cytogenetics, Genetic Disorder +8

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

Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard et al. · European Journal of Human Genetics · 2015 · 52 citations · Full text

Epidemiology, Clinical Population, Diagnosis +3

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

Manuela Morleo, Tiziano Pramparo, Lucia Perone et al. · American Journal of Medical Genetics Part A · 2005 · 41 citations

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

M Chaâbouni, M. Le Merrer, O Raoul et al. · European Journal of Medical Genetics · 2005 · 27 citations

Biology, Cytogenetics, Genetic Disorder +9

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid

M. Essaoui, Mathilde Nizon, M Beaujard et al. · European Journal of Medical Genetics · 2013 · 17 citations

Array Cgh, Amniotic Fluid, Genetic Disorder +7