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

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1

(2010) Talia M. Muram-Zborovski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Monozygotic twins discordant for neurofibromatosis 1

(2010) Lee Kaplan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions?

(2010) Angelika C. Roehl et al.   HUMAN MUTATION

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

(2010) Angelika C. Roehl et al.   HUMAN MUTATION

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

(2010) Kathrin Bengesser et al.   HUMAN MUTATION

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

(2010) Eric Pasmant et al.   HUMAN MUTATION

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

(2010) V.-F. Mautner et al.   JOURNAL OF MEDICAL GENETICS

Somatic gene mutation and human disease other than cancer: An update

(2010) Robert P. Erickson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

(2008) Hildegard Kehrer-Sawatzki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient

(2008) Eric Pasmant et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

(2007) Sofie De Schepper et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY