Ludwine M. Messiaen

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

Ludwine M. Messiaen, J. Vogt, Kathrin Bengesser et al. · Human Mutation · 2010 · 115 citations · Full text

Neuro-oncology, Nf1 Deletions, Segmental Neurofibromatosis Type-1 +13

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, L Hardman et al. · Human Mutation · 2009 · 48 citations · Full text

Genetics, Genetic Epidemiology, Human Condition +23

Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing

Ludwine M. Messiaen, Tom Callens, Kyle J. Roux et al. · Genetics in Medicine · 1999 · 39 citations

Recurrent Missense Mutation, Genetic Disorder, Medicine +9

Improved multiplex ligation‐dependent probe amplification analysis identifies a deleterious <i>PMS2</i> allele generated by recombination with crossover between <i>PMS2</i> and <i>PMS2CL</i>

Annekatrin Wernstedt, Emanuele Valtorta, Franco Armelao et al. · Genes Chromosomes and Cancer · 2012 · 24 citations · Full text

Multiplex Technology, Genetics, Molecular Biology +17

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

Juan Alberto Pérez-Valencia, Richard Gallon, Yunjia Chen et al. · Genetics in Medicine · 2020 · 21 citations · Full text