Genotype–Phenotype Correlation of Novel NF1 Gene Variants Detected by NGS in Patients with Neurofibromatosis Type 1

2021 ◽  
Vol 15 (4) ◽  
pp. 469-476
Author(s):  
Ozlem Oz
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Gene Variants ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Nf1 Gene

Neurofibromatosis type 1 without cutaneous neurofibromas: a rare genotype-phenotype correlation?

2020 ◽  
Vol 30 (5) ◽  
pp. 608-609
Author(s):  
Tokimasa Hida ◽  
Masashi Idogawa ◽  
Aki Ishikawa ◽  
Miyako Mizukami ◽  
Junji Kato ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Cutaneous Neurofibromas

scholarly journals A rare case of patient with neurofibromatosis type 1 in a genotype-phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

2021 ◽  
Author(s):  
Vityala Yethindra ◽  
Tugolbai Tagaev ◽  
Elmira Mainazarova ◽  
Cholpon Dzhumakova ◽  
Asel Namazbekova
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rare Case ◽  
Neurofibromatosis Type ◽  
Chromosome 17 ◽  
Chromosomal Microarray ◽  
Severe Phenotype ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Submicroscopic Deletion

We are reporting a case of neurofibromatosis type 1 in a genotype-phenotype correlation and chromosomal microarray test revealed a submicroscopic deletion on the long arm of chromosome 17, which is associated with a more severe phenotype. The presence of a more severe phenotype warrants precise monitoring of complications.

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

scholarly journals Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1

2015 ◽  
Vol 23 (11) ◽  
pp. 1460-1461 ◽  
Author(s):  
Claudia Santoro ◽  
Anna Maietta ◽  
Teresa Giugliano ◽  
Daniela Melis ◽  
Silverio Perrotta ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

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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