Regional fine mapping of the β crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2

1993 ◽  
Vol 8 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Emilia K. Bijlsma ◽  
Olivier Delattre ◽  
Jenneke A. Juyn ◽  
Thomas Melot ◽  
Andries Westerveld ◽  
...  
Keyword(s):  
Fine Mapping ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma

1996 ◽  
Vol 84 (5) ◽  
pp. 847-851 ◽  
Author(s):  
Takehiko Harada ◽  
Richard M. Irving ◽  
John H. Xuereb ◽  
David E. Barton ◽  
David G. Hardy ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Sporadic Meningioma

✓ The authors investigated the role of somatic mutations of the neurofibromatosis type 2 (NF2) gene in sporadic meningioma. Neurofibromatosis 2 is a dominantly inherited familial tumor syndrome predisposing affected patients to a variety of central nervous system tumors including vestibular schwannoma and meningioma. Neurofibromatosis type 2 is caused by germline mutations in the NF2 tumor suppressor gene. In addition, the authors and others have reported that somatic NF2 gene mutations occur frequently in nonfamilial vestibular schwannoma. In this study, molecular genetic analysis was performed on 23 nonfamilial meningiomas. Paired DNA samples extracted from the blood and tumors of the patients were analyzed for loss of heterozygosity (LOH) in the region of the NF2 gene on chromosome 22 using closely linked DNA markers. The NF2 gene mutations were sought by single-stranded conformation polymorphism analysis and DNA sequencing. Fourteen (61%) of 23 meningiomas showed LOH in the region of the NF2 gene on chromosome 22. Somatic NF2 gene mutations were detected in eight meningiomas (35%) after screening all 17 exons. All tumors with NF2 gene mutations showed simultaneous chromosome 22 LOH. Review of the histopathological findings of the cases studied did not demonstrate any predominance of genetic abnormalities in a particular histological type of meningioma. These results are compatible with the hypothesis that the NF2 gene acts as a tumor suppressor and that its inactivation is important in the pathogenesis of sporadic meningioma.

scholarly journals A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus

Genomics ◽  
1992 ◽  
Vol 14 (3) ◽  
pp. 574-584 ◽  
Author(s):  
Kelly A. Frazer ◽  
Michael Boehnke ◽  
Marcia L. Budarf ◽  
Roger K. Wolff ◽  
Beverly S. Emanuel ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Radiation Hybrid ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Radiation Hybrid Map

Identification of genetic aberrations on chromosome 22 outside theNF2locus in schwannomatosis and neurofibromatosis type 2

2005 ◽  
Vol 26 (6) ◽  
pp. 540-549 ◽  
Author(s):  
Patrick G. Buckley ◽  
Kiran K. Mantripragada ◽  
Teresita Díaz de Ståhl ◽  
Arkadiusz Piotrowski ◽  
Caisa M. Hansson ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Genetic Aberrations

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

1997 ◽  
Vol 100 (1) ◽  
pp. 67-74 ◽  
Author(s):  
H. Kehrer-Sawatzki ◽  
Martin Udart ◽  
Winfrid Krone ◽  
Reinhard Baden ◽  
Raimund Fahsold ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Ring Chromosome ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Nf2 Gene ◽  
Expression Studies

Loss of heterozygosity on chromosome 22 in human gliomas does not inactivate the neurofibromatosis type 2 gene

1996 ◽  
Vol 92 (1) ◽  
pp. 73-78 ◽  
Author(s):  
David Watkins ◽  
Martin H. Ruttledge ◽  
Julie Sarrazin ◽  
Shyam Rangaratnam ◽  
Michel Poisson ◽  
...  
Keyword(s):  
Loss Of Heterozygosity ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Chromosome 22 ◽  
Human Gliomas

Surgical Management of Vestibular Schwannomas in Neurofibromatosis Type 2

2012 ◽  
Vol 73 (S 02) ◽  
Author(s):  
J. Tysome ◽  
R. MacFarlane ◽  
J. Durie-Gair ◽  
N. Donnelly ◽  
R. Mannion ◽  
...  
Keyword(s):  
Surgical Management ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Vestibular Schwannomas

Early Outcomes Following Bevacizumab for Rapidly Growing Schwannomas in Neurofibromatosis Type 2

2012 ◽  
Vol 73 (S 02) ◽  
Author(s):  
P. Patel ◽  
R. Jena ◽  
S. Jefferies ◽  
A. Hensiek ◽  
L. Raymond ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2

Speech Perception in Auditory Brainstem Implants in Neurofibromatosis Type 2

2012 ◽  
Vol 73 (S 02) ◽  
Author(s):  
C. Matthies ◽  
R. Mlynski ◽  
S. Brill ◽  
J. Mueller ◽  
C. Varallyay ◽  
...  
Keyword(s):  
Speech Perception ◽  
Neurofibromatosis Type ◽  
Auditory Brainstem ◽  
Neurofibromatosis Type 2 ◽  
Auditory Brainstem Implants
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