Associated Papers
The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses.
Chandler N et al.
Prenatal Diagnosis, 2025
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
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Bianchessi D et al.
Genes, 2020
The absence that makes the difference: choroidal abnormalities in Legius syndrome.
Tucci A et al.
Journal of Human Genetics, 2017
Family with Legius syndrome (neurofibromatosis type 1-like syndrome).
Sakai N et al.
The Journal of Dermatology, 2015
[A novel neurocutaneous syndrome: Legius syndrome. A case report].
Cemeli-Cano M et al.
Revista De Neurologia, 2014
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
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L et al.
Jama, 2009
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Brems H et al.
Nature Genetics, 2007
Select a paper to view details