Related references
Note: Only part of the references are listed.Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type
Andre Leier et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2022)
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Viola Alesi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
Hannie C. W. Douben et al.
HUMAN MUTATION (2022)
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
R. Koster et al.
NPJ GENOMIC MEDICINE (2021)
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Eric Legius et al.
GENETICS IN MEDICINE (2021)
Our Conflict with Transposable Elements and Its Implications for Human Disease
Kathleen H. Burns
Annual Review of Pathology-Mechanisms of Disease (2020)
Neurofibromatosis type 1
David H. Gutmann et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Roles for retrotransposon insertions in human disease
Dustin C. Hancks et al.
MOBILE DNA (2016)
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
D. G. Evans et al.
EBIOMEDICINE (2016)
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing
Weihong Xu et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2014)
A Highly Sensitive Genetic Protocol to Detect NF1 Mutations
Maria Carmen Valero et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2011)
The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
Katharina Wimmer et al.
PLOS GENETICS (2011)
Mobile elements: Drivers of genome evolution
HH Kazazian
SCIENCE (2004)
Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes
JS Han et al.
NATURE (2004)
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)
The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats
H Kurahashi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)