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

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

2014 ◽  
Vol 21 (2) ◽  
pp. 328-330 ◽  
Author(s):  
Francesco Nicita ◽  
Isabella Torrente ◽  
Alberto Spalice ◽  
Irene Bottillo ◽  
Laura Papetti ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours

2018 ◽  
Vol 53 ◽  
pp. 62-68 ◽  
Author(s):  
Bodapati Chandra Mouleshwara Prasad ◽  
Vemula Venkata Ramesh Chandra ◽  
Agarwal Sudarsan ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Peripheral Nerve ◽  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Clinical Characteristics ◽  
Neurofibromatosis Type ◽  
Nerve Sheath ◽  
Nf1 Gene ◽  
Successive Generations ◽  
Gene Mutation Analysis

scholarly journals Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

2011 ◽  
Vol 32 (6) ◽  
pp. E2134-E2147 ◽  
Author(s):  
Julia Vogt ◽  
Jürgen Kohlhase ◽  
Susanne Morlot ◽  
Lan Kluwe ◽  
Victor-Felix Mautner ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Monozygotic Twins ◽  
Neurofibromatosis Type ◽  
Nf1 Gene

Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor

2006 ◽  
Vol 41 (4) ◽  
pp. 378-382 ◽  
Author(s):  
Hiroshi Nemoto ◽  
Genshu Tate ◽  
Annalisa Schirinzi ◽  
Takao Suzuki ◽  
Shoji Sasaya ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Japanese Patient ◽  
Neurofibromatosis Type ◽  
Stromal Tumor ◽  
Nf1 Gene

scholarly journals Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma

2020 ◽  
Vol 46 (1) ◽  
Author(s):  
Silvia Vannelli ◽  
Raffaele Buganza ◽  
Federica Runfola ◽  
Ilaria Mussinatto ◽  
Antonio Andreacchio ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Ossifying Fibroma ◽  
Nf1 Gene

Rare NF1 Gene Mutation in Chinese Patient with Neurofibromatosis Type 1 and Anaplastic Astrocytoma

2020 ◽  
Vol 134 ◽  
pp. 434-437
Author(s):  
Shizhen Zhou ◽  
Yufang Zhu ◽  
Jun Xu ◽  
Rongjie Tao ◽  
Shuanghu Yuan
Keyword(s):  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Anaplastic Astrocytoma ◽  
Neurofibromatosis Type ◽  
Chinese Patient ◽  
Nf1 Gene

Identification of the NF1 gene mutation in Korean families with neurofibromatosis type 1

2013 ◽  
Vol 36 (1) ◽  
pp. 11-15
Author(s):  
Yong Hwa Jo ◽  
Hye Ok Kim ◽  
Hae-Ryong Song ◽  
Kyung-Sik Yoon
Keyword(s):  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Korean Families ◽  
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
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