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Prediction and evaluation of deleterious and disease causing non-synonymous SNPs (nsSNPs) in human NF2 gene responsible for neurofibromatosis type 2 (NF2)
Journal of Biomolecular Structure and Dynamics
◽
10.1080/07391102.2020.1805018
◽
2020
◽
pp. 1-12
Author(s):
Brandon Havranek
◽
Shahidul M. Islam
Keyword(s):
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Synonymous Snps
◽
Nf2 Gene
Download Full-text
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References
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2
Human Genetics
◽
10.1007/bf02265270
◽
1996
◽
Vol 97
(2)
◽
pp. 224-227
◽
Cited By ~ 26
Author(s):
Lan Kluwe
◽
Victor -F. Mautner
Keyword(s):
Missense Mutation
◽
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Clinical Phenotypes
◽
Nf2 Gene
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Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene
Human Genetics
◽
10.1007/s004390000378
◽
2000
◽
Vol 107
(4)
◽
pp. 366-371
◽
Cited By ~ 17
Author(s):
Roberta Sestini
◽
Rossella Vivarelli
◽
Paolo Balestri
◽
Franco Ammannati
◽
Enrico Montali
◽
...
Keyword(s):
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Novel Mutations
◽
Nf2 Gene
◽
Clinically Normal
Download Full-text
Neurofibromatosis type 2 (NF2) gene is somatically mutated in mesothelioma but not in lung cancer
Lung Cancer
◽
10.1016/0169-5002(95)90162-0
◽
1995
◽
Vol 13
(1)
◽
pp. 84-85
Keyword(s):
Lung Cancer
◽
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Nf2 Gene
Download Full-text
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas
Human Genetics
◽
10.1007/s004390050107
◽
1996
◽
Vol 97
(5)
◽
pp. 632-637
◽
Cited By ~ 1
Author(s):
Lucia Rosaria De Vitis
◽
Andrea Tedde
◽
Francesca Vitelli
◽
Franco Ammannati
◽
Pasquale Mennonna
◽
...
Keyword(s):
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Nf2 Gene
Download Full-text
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas
Human Genetics
◽
10.1007/bf02281874
◽
1996
◽
Vol 97
(5)
◽
pp. 632-637
◽
Cited By ~ 55
Author(s):
Lucia Rosaria De Vitis
◽
Andrea Tedde
◽
Francesca Vitelli
◽
Franco Ammannati
◽
Pasquale Mennonna
◽
...
Keyword(s):
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Nf2 Gene
Download Full-text
Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene
Human Genetics
◽
10.1007/bf00214177
◽
1995
◽
Vol 96
(1)
◽
pp. 1-5
◽
Cited By ~ 6
Author(s):
E. K. Bijlsma
◽
P. Merel
◽
P. Fleury
◽
C. J. van Asperen
◽
A. Westerveld
◽
...
Keyword(s):
Hearing Loss
◽
Autosomal Dominant
◽
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Nf2 Gene
Download Full-text
Somatic Mosaicism of NF2 Gene Mutation with Constitutional NF1 Gene Mutation in Neurofibromatosis Type 2: a Case Report
Clinical Laboratory
◽
10.7754/clin.lab.2020.200403
◽
2020
◽
Vol 66
(11/2020)
◽
Author(s):
Soo Yoo
◽
Yong-Soon Hwang
Keyword(s):
Case Report
◽
Gene Mutation
◽
Somatic Mosaicism
◽
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Nf2 Gene
◽
Nf1 Gene
Download Full-text
Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas
Human Genetics
◽
10.1007/bf00218846
◽
1996
◽
Vol 97
(1)
◽
Cited By ~ 5
Author(s):
Jes�s Sainz
◽
Karla Figueroa
◽
MichaelE. Baser
◽
Stefan-Matthias Pulst
Keyword(s):
Gene Mutations
◽
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Vestibular Schwannomas
◽
Nf2 Gene
Download Full-text
Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus
Human Molecular Genetics
◽
10.1093/hmg/2.8.1215
◽
1993
◽
Vol 2
(8)
◽
pp. 1215-1220
◽
Cited By ~ 33
Author(s):
Marc Sanson
◽
Claude Marineau
◽
Chantale Desmaze
◽
Mohini Lutchman
◽
Martin Ruttledge
◽
...
Keyword(s):
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Nf2 Gene
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CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas
Neuropathology and Applied Neurobiology
◽
10.1111/j.1365-2990.2010.01090.x
◽
2010
◽
Vol 36
(6)
◽
pp. 505-514
◽
Cited By ~ 16
Author(s):
P. J. Kullar
◽
D. M. Pearson
◽
D. S. Malley
◽
V. P. Collins
◽
K. Ichimura
Keyword(s):
Cpg Island
◽
Neurofibromatosis Type
◽
Neurofibromatosis Type 2
◽
Vestibular Schwannomas
◽
Nf2 Gene
Download Full-text
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