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Journal of Medical Genetics|February 1, 2011
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlationsSaba Sharif, Meena Upadhyaya, Rosalie Ferner, et al.
Human Genetics|January 11, 2003
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell typeQing Wang, Gilles Montmain, Eric Ruano, et al.
European Journal of Human Genetics : EJHG|October 11, 2012
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlationShay Ben-Shachar, Shlomi Constantini, Hen Hallevi, et al.
Genes, Chromosomes & Cancer|December 12, 2007
Telomerase activity is a biomarker for high grade malignant peripheral nerve sheath tumors in neurofibromatosis type 1 individualsKiran K Mantripragada, Matthew Caley, Phil Stephens, et al.
BMC Medical Genomics|March 6, 2024
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and reviewLaurence Pacot, Milind Girish, Samantha Knight, et al.
Human Mutation|June 21, 2006
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)Meena Upadhyaya, Gill Spurlock, Elisa Majounie, et al.
Genes, Chromosomes & Cancer|January 27, 2017
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumorsPierre Sohier, Armelle Luscan, Angharad Lloyd, et al.
Human Genetics|July 12, 2018
Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequencesAnna Summerer, Victor-Felix Mautner, Meena Upadhyaya, et al.
Investigative Ophthalmology & Visual Science|December 23, 2011
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1Maria José Ribeiro, Inês Ribeiro Violante, Inês Bernardino, et al.
Human Mutation|February 15, 2012
Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesisMeena Upadhyaya, Gill Spurlock, Laura Thomas, et al.
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