A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2

1996 ◽  
Vol 97 (2) ◽  
pp. 224-227 ◽  
Author(s):  
Lan Kluwe ◽  
Victor -F. Mautner
Keyword(s):  
Missense Mutation ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Clinical Phenotypes ◽  
Nf2 Gene

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

2000 ◽  
Vol 107 (4) ◽  
pp. 366-371 ◽  
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

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

1996 ◽  
Vol 97 (5) ◽  
pp. 632-637 ◽  
Author(s):  
Lucia Rosaria De Vitis ◽  
Andrea Tedde ◽  
Francesca Vitelli ◽  
Franco Ammannati ◽  
Pasquale Mennonna ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

1996 ◽  
Vol 97 (5) ◽  
pp. 632-637 ◽  
Author(s):  
Lucia Rosaria De Vitis ◽  
Andrea Tedde ◽  
Francesca Vitelli ◽  
Franco Ammannati ◽  
Pasquale Mennonna ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene

1995 ◽  
Vol 96 (1) ◽  
pp. 1-5 ◽  
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

Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas

1996 ◽  
Vol 97 (1) ◽  
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

Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus

1993 ◽  
Vol 2 (8) ◽  
pp. 1215-1220 ◽  
Author(s):  
Marc Sanson ◽  
Claude Marineau ◽  
Chantale Desmaze ◽  
Mohini Lutchman ◽  
Martin Ruttledge ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2

2015 ◽  
Vol 36 (5) ◽  
pp. 908-914 ◽  
Author(s):  
Thomas E. Heineman ◽  
D. Gareth R. Evans ◽  
Fabien Campagne ◽  
Samuel H. Selesnick
Keyword(s):  
In Silico ◽  
In Silico Analysis ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Missense Mutations ◽  
Nf2 Gene ◽  
Silico Analysis
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