Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
about
Neurofibromatosis type 2 (NF2): a clinical and molecular reviewNeurofibromatosis type 2Neurofibromatosis type 2.Clinicopathologic assay of 15 tumor resections in a family with neurofibromatosis type 2.Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.Hereditary genodermatoses with cancer predispositionMosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.Multiple schwannomas: report of two cases.Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2Paediatric presentation of type 2 neurofibromatosis.Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation.Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomasGenotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutationsProbability of bilateral disease in people presenting with a unilateral vestibular schwannoma.Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 proteinMolecular analysis of the NF2 tumor-suppressor gene in schwannomatosisAn ELISA-based high throughput protein truncation test for inherited breast cancer.Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.The neurofibromatosis type 2 gene is mutated in perineurial cell tumors: a molecular genetic study of eight cases.Predictors of the risk of mortality in neurofibromatosis 2Familial Schwannomatosis: A Diagnostic Challenge.Genetic Severity Score predicts clinical phenotype in NF2.The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells.Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.Cerebrovascular Insult as Presenting Symptom of Neurofibromatosis Type 2 in Children, Adolescents, and Young Adults
P2860
Q21202892-63A9F5EC-604F-4B17-877C-05FF924B3A2BQ24681430-3F25874B-076B-4F1B-A5A6-ED4AAFE2C8D0Q30391375-7A8AD86A-4D21-4DE1-9376-559BCCA45D18Q30455901-E83C98F8-3602-4E51-B34D-F5204779E502Q30467373-694224E0-2F0B-4E20-9B89-A3513F1804DCQ30470596-75527BA7-1510-460A-AE98-9ECB10761B1AQ30480777-D0355B9F-C73B-4373-A69B-6ABEB81BFC43Q30492334-CCF2C41D-7A21-4435-A84C-2576A98B9359Q30493308-DBA5B04D-13E7-4E9F-9C73-1A352CBCAFE8Q30494983-984F45E7-BFDE-48F5-8CE7-137FA154B02AQ30495325-500E13EB-E200-442B-93D8-8601FB62139CQ30495332-47B81DDC-FC52-4E57-9903-09682B17134EQ30495336-49BC1B16-2A2B-457E-A4D0-A02D555ED835Q30495358-D9078686-8F3A-433E-B247-688F80531017Q30495361-F39EA0FA-012B-4BAF-92D6-A2F87D984BEFQ30495647-DD53F43C-32E7-45F7-8310-C372FAEF8FFEQ30500623-DF168776-C79C-46EC-A85E-5E3A11D69239Q30501205-423AF890-F4EE-4808-BC98-D6BA8FFDDDCEQ34989103-A27E71B9-A724-489D-B6C8-F870805A7F0BQ35126189-F52FF6E0-10D3-4BAB-AA10-10B1D3B90878Q35448670-2E5EE712-E2A7-40E3-B92F-FF9D0080DC5BQ35842044-5CCD6B08-C44E-4403-B3B0-4EF0280FC9B3Q37202827-65CF8F55-DA57-4841-922C-69A11AFDE170Q37734248-565D1C3F-82BD-43E1-86C8-2918340474B2Q38398807-D39F2029-3A24-4BD0-A471-01A82CAE4DA3Q39677459-2BB137C3-89A9-4EE4-97DE-7E8C9BCF8E89Q42977347-A386BD2E-407A-4C64-B8EB-22DFB20F3DD0Q57640073-472AA058-299C-4200-997A-7002BB5963D8
P2860
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
description
1996 nî lūn-bûn
@nan
1996 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Germ-line mutations in the neu ...... ity and retinal abnormalities.
@ast
Germ-line mutations in the neu ...... ity and retinal abnormalities.
@en
type
label
Germ-line mutations in the neu ...... ity and retinal abnormalities.
@ast
Germ-line mutations in the neu ...... ity and retinal abnormalities.
@en
prefLabel
Germ-line mutations in the neu ...... ity and retinal abnormalities.
@ast
Germ-line mutations in the neu ...... ity and retinal abnormalities.
@en
P2093
P2860
P1476
Germ-line mutations in the neu ...... rity and retinal abnormalities
@en
P2093
H S Nicholson
M I Kaiser-Kupfer
M M MacCollin
R Eldridge
P2860
P304
P407
P577
1996-09-01T00:00:00Z