Results 201 to 210 of about 33,733 (216)

NF1

2011
openaire   +1 more source

Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

Human Mutation, 2000
Ludwine Messiaen, Tom Callens, Geert Mortier   +2 more
exaly  

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

Human Mutation, 2011
Ludwine Messiaen, Julia Vogt, Eduard Serra   +2 more
exaly  

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human Mutation, 2020
Tom Callens, Linlea Armstrong, Dusica Babovic-Vuksanovic   +2 more
exaly  

Expression ofNF1pseudogenes

Human Mutation, 2005
Haijing, Yu, Xiangyi, Zhao, Bing, Su, Dianming, Li, Yanhua, Xu, Songjiao, Luo, Chunjie, Xiao, Wen, Wang   +7 more
openaire   +2 more sources

Loss ofNF1Alleles Distinguish Sporadic from NF1-Associated Pilocytic Astrocytomas

Journal of Neuropathology and Experimental Neurology, 2001
Lan Kluwe, Marcos Tatagiba, D Stavrou
exaly  

Screening for truncated NF1 proteins

Nature Genetics, 1994
R A, Heim, L M, Silverman, R A, Farber, L N, Kam-Morgan, M C, Luce   +4 more
openaire   +2 more sources

ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas

Human Mutation, 2006
Jo Vandesompele, Thorsten Rosenbaum, Geert Mortier   +2 more
exaly  

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

American Journal of Human Genetics, 2018
Tom Callens, Meng-Chang Hsiao, Meena Balasubramanian   +2 more
exaly  

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

Human Mutation, 2008
Meena Upadhyaya, G Spurlock, Martino Ruggieri   +2 more
exaly