Related references
Note: Only part of the references are listed.Alternative splicing of the neurofibromatosis type I pre-mRNA
Victoria A. Barron et al.
BIOSCIENCE REPORTS (2012)
Neurofibromatosis type 1: from genotype to phenotype
Eric Pasmant et al.
JOURNAL OF MEDICAL GENETICS (2012)
A Highly Sensitive Genetic Protocol to Detect NF1 Mutations
Maria Carmen Valero et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2011)
Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1
Eric Pasmant et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2011)
The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
Katharina Wimmer et al.
PLOS GENETICS (2011)
NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype
Eric Pasmant et al.
HUMAN MUTATION (2010)
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
V-F Mautner et al.
JOURNAL OF MEDICAL GENETICS (2010)
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
Audrey Sabbagh et al.
HUMAN MOLECULAR GENETICS (2009)
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
E. Pasmant et al.
JOURNAL OF MEDICAL GENETICS (2009)
Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient
Eric Pasmant et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Nature and mRNA Effect of 282 Different NF1 Point Mutations: Focus on Splicing Alterations
Eva Pros et al.
HUMAN MUTATION (2008)
Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
H. Kehrer-Sawatzki et al.
JOURNAL OF MEDICAL GENETICS (2008)
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
Ophelia Maertens et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Rosalie E. Ferner et al.
JOURNAL OF MEDICAL GENETICS (2007)
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5 ' splice-site disruption
K. Wimmer et al.
HUMAN MUTATION (2007)
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
M. Upadhyaya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Spectrum of single- and multiexon NFI copy number changes in a cohort of 1,100 unselected NFI patients
K Wimmer et al.
GENES CHROMOSOMES & CANCER (2006)
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain
C Mattocks et al.
JOURNAL OF MEDICAL GENETICS (2004)
Characterization of functional elements in the neurofibromatosis (NF1) proximal promoter region
MX Zou et al.
ONCOGENE (2004)
Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene
MP Horan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
M Venturin et al.
JOURNAL OF MEDICAL GENETICS (2004)
Novel and Recurrent Mutations in the NF1 Gene in Italian Patients with Neurofibromatosis Type 1
Alessandro De Luca et al.
HUMAN MUTATION (2004)
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
B Castle et al.
JOURNAL OF MEDICAL GENETICS (2003)
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients -: art. no. e82
E Ars et al.
JOURNAL OF MEDICAL GENETICS (2003)
Elevated risk for MPNST in NF1 microdeletion patients
T De Raedt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)
J Szudek et al.
GENETIC EPIDEMIOLOGY (2002)
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain
R Fahsold et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)