Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) geneSONG HAN; COOPER, David N; UPADHYAYA, Meena et al.Human genetics. 2001, Vol 109, Num 5, pp 487-497, issn 0340-6717Article

CONFIRMATION THAT THE SPECIFIC SSLP MICROSATELLITE ALLELE 4qA161 SEGREGATES WITH FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD) IN A COHORT OF MULTIPLEX AND SIMPLEX FSHD FAMILIESSPURLOCK, Gillian; JIM, Hoi-Ping; UPADHYAYA, Meena et al.Muscle & nerve. 2010, Vol 42, Num 5, pp 820-821, issn 0148-639X, 2 p.Article

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burdenTHOMAS, Laura; KLUWE, Lan; CHUZHANOVA, Nadia et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 4, pp 391-400, issn 1364-6745, 10 p.Article

Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) geneHORAN, Martin P; OSBORN, Michael; COOPER, David N et al.American journal of medical genetics. 2004, Vol 131A, Num 3, pp 227-231, issn 0148-7299, 5 p.Article

Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1CONSOLI, Claudia; MOSS, Celia; GREEN, Stuart et al.Journal of investigative dermatology. 2005, Vol 125, Num 3, pp 463-466, issn 0022-202X, 4 p.Article

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1UPADHYAYA, Meena; MAJOUNIE, Elisa; THOMPSON, Peter et al.Human genetics. 2003, Vol 112, Num 1, pp 12-17, issn 0340-6717, 6 p.Article

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasTHOMAS, Laura; SPURLOCK, Gill; UPADHYAYA, Meena et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 411-419, issn 1018-4813, 9 p.Article

Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissuesMILLER, Shyra J; RANGWALA, Fatima; MAUTNER, Victor et al.Cancer research (Baltimore). 2006, Vol 66, Num 5, pp 2584-2591, issn 0008-5472, 8 p.Article

Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findingsSPURLOCK, Gill; KNIGHT, Samantha J. L; THOMAS, Nick et al.Journal of cancer research and clinical oncology. 2010, Vol 136, Num 12, pp 1869-1880, issn 0171-5216, 12 p.Article

Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel AssociationBREMS, Hilde; PARK, Caroline; SLOAN, Jennifer L et al.Cancer research (Chicago, Ill.). 2009, Vol 69, Num 18, pp 7393-7401, issn 0008-5472, 9 p.Article

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletionsVENTURIN, Marco; GERVASINI, Cristina; RIVA, Paola et al.Human genetics. 2004, Vol 115, Num 1, pp 69-80, issn 0340-6717, 12 p.Article

NSD1 Mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypesDOUGLAS, Jenny; HANKS, Sandra; TEMPLE, I. Karen et al.American journal of human genetics. 2003, Vol 72, Num 1, pp 132-143, issn 0002-9297, 12 p.Article

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromasUPADHYAYA, Meena; SPURLOCK, Gill; KLUWE, Lan et al.Neurogenetics (Oxford. Print). 2009, Vol 10, Num 3, pp 251-263, issn 1364-6745, 13 p.Article

High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic HybridizationMANTRIPRAGADA, Kiran K; SPURLOCK, Gillian; KLUWE, Lan et al.Clinical cancer research. 2008, Vol 14, Num 4, pp 1015-1024, issn 1078-0432, 10 p.Article

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell typeQING WANG; MONTMAIN, Gilles; RUANO, Eric et al.Human genetics. 2003, Vol 112, Num 2, pp 117-123, issn 0340-6717, 7 p.Article

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype―phenotype correlationsSHARIF, Saba; UPADHYAYA, Meena; FERNER, Rosalie et al.Journal of medical genetics. 2011, Vol 48, Num 4, pp 256-260, issn 0022-2593, 5 p.Article

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1FERNER, Rosalie E; HUSON, Susan M; KIRBY, Amanda et al.Journal of medical genetics. 2007, Vol 44, Num 2, pp 81-88, issn 0022-2593, 8 p.Article

Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidneyOKTENLI, Cagatay; GUL, Davut; ENG, Charis et al.American journal of medical genetics. 2004, Vol 127A, Num 3, pp 298-301, issn 0148-7299, 4 p.Article

Recombination hotspot in NF1 microdeletion patientsLOPEZ-CORREA, Catalina; DORSCHNER, Michael; FRYNS, Jean-Pierre et al.Human molecular genetics (Print). 2001, Vol 10, Num 13, pp 1387-1392, issn 0964-6906Article