Mosaic Deletion of theNF1Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1

Neurofibromatosis type 1: from genotype to phenotype

(2012) Eric Pasmant et al.   JOURNAL OF MEDICAL GENETICS

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

(2011) Laura Thomas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Monozygotic twins discordant for neurofibromatosis 1

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

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

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 assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

(2009) E Pasmant et al.   JOURNAL OF MEDICAL GENETICS

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

Germline and somaticNF1mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours

(2008) Irene Bottillo et al.   JOURNAL OF PATHOLOGY

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