Results 211 to 220 of about 34,178 (233)

NF1

2005
openaire   +1 more source

Unequal expression of NF1 alleles

Nature Genetics, 1994
S, Hoffmeyer, G, Assum, D, Kaufmann, W, Krone   +3 more
openaire   +2 more sources

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

Human Mutation, 2011
Ludwine Messiaen, Hildegard Kehrer-Sawatzki, David N Cooper   +2 more
exaly  

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

EBioMedicine, 2016
Gareth Evans, E Howard, S M Huson
exaly  

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

Human Mutation, 2004
Lan Kluwe, Hildegard Kehrer-Sawatzki
exaly  

NF1

2011
openaire   +1 more source

Loss ofNF1Alleles Distinguish Sporadic from NF1-Associated Pilocytic Astrocytomas

Journal of Neuropathology and Experimental Neurology, 2001
Lan Kluwe, Marcos Tatagiba, Victor-Felix Mautner   +2 more
exaly  

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

Human Mutation, 2013
Pierre Wolkenstein, Eric Pasmant, Dominique Vidaud   +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

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

Human Mutation, 2000
Geert Mortier, Ludwine Messiaen, Anne De Paëpe   +2 more
exaly