Associated Papers
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.
Chelleri C et al.
American Journal of Medical Genetics. Part A, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2
The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.
Sekelska M et al.
General Physiology and Biophysics, 2017
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
Pasmant E et al.
European Journal of Human Genetics : Ejhg, 2015
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
Brems H et al.
The Keio Journal of Medicine, 2013
Review and update of SPRED1 mutations causing Legius syndrome.
Brems H et al.
Human Mutation, 2012
Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk S et al.
Clinical Genetics, 2011
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L et al.
Jama, 2009
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E et al.
Journal of Medical Genetics, 2009
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
Spurlock G et al.
Journal of Medical Genetics, 2009
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