scholarly journals Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

Genes ◽  
2018 ◽  
Vol 9 (4) ◽  
pp. 216 ◽  
Author(s):  
Alessandro Stella ◽  
Patrizia Lastella ◽  
Daria Loconte ◽  
Nenad Bukvic ◽  
Dora Varvara ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Gene Variants ◽  
Nf1 Gene

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1993 ◽  
Vol 92 (4) ◽  
pp. 429-430 ◽  
Author(s):  
Conxi L�zaro ◽  
Antonia Gaona ◽  
Ganfeng Xu ◽  
Robert Weiss ◽  
Xavier Estivill
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Repeat Polymorphism ◽  
Nf1 Gene

scholarly journals Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

2021 ◽  
Author(s):  
Nahla Abdel‐Aziz ◽  
Ghada El‐Kamah ◽  
Rabab Khairat ◽  
Hanan Mohamed ◽  
Yehia Gad ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Mutational Spectrum ◽  
Nf1 Gene

A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

1994 ◽  
Vol 94 (1) ◽  
pp. 97-100 ◽  
Author(s):  
Sven Hoffmeyer ◽  
Günter Assum ◽  
Dieter Kaufmann ◽  
Kirsten Schwenk ◽  
Winfrid Krone
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2

1993 ◽  
Vol 2 (4) ◽  
pp. 439-444 ◽  
Author(s):  
David I. Rodenhiser ◽  
Marion B. Coulter-Mackie ◽  
Shiva M. Singh
Keyword(s):  
Dna Methylation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Gene Region ◽  
Nf1 Gene

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1

2010 ◽  
Vol 27 (4) ◽  
pp. 635-638
Author(s):  
Anna Lia Gabriele ◽  
Martino Ruggieri ◽  
Alessandra Patitucci ◽  
Angela Magariello ◽  
Francesca Luisa Conforti ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Italian Family ◽  
Nf1 Gene
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