175 related articles for article (PubMed ID: 37087513)
1. Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
Oishi N; Noguchi M; Fujioka M; Nara K; Wasano K; Mutai H; Kawakita R; Tamura R; Karatsu K; Morimoto Y; Toda M; Ozawa H; Matsunaga T
Sci Rep; 2023 Apr; 13(1):6595. PubMed ID: 37087513
[TBL] [Abstract][Full Text] [Related]
2. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Evans DG; Trueman L; Wallace A; Collins S; Strachan T
J Med Genet; 1998 Jun; 35(6):450-5. PubMed ID: 9643284
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Kehrer-Sawatzki H; Kluwe L; Friedrich RE; Summerer A; Schäfer E; Wahlländer U; Matthies C; Gugel I; Farschtschi S; Hagel C; Cooper DN; Mautner VF
Hum Genet; 2018 Jul; 137(6-7):543-552. PubMed ID: 30006736
[TBL] [Abstract][Full Text] [Related]
4. Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas).
Welling DB
Laryngoscope; 1998 Feb; 108(2):178-89. PubMed ID: 9473065
[TBL] [Abstract][Full Text] [Related]
5. Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
Teranishi Y; Miyawaki S; Hongo H; Dofuku S; Okano A; Takayanagi S; Ota T; Yoshimura J; Qu W; Mitsui J; Nakatomi H; Morishita S; Tsuji S; Saito N
J Med Genet; 2021 Oct; 58(10):701-711. PubMed ID: 33067351
[TBL] [Abstract][Full Text] [Related]
6. Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas.
Hadfield KD; Smith MJ; Urquhart JE; Wallace AJ; Bowers NL; King AT; Rutherford SA; Trump D; Newman WG; Evans DG
Oncogene; 2010 Nov; 29(47):6216-21. PubMed ID: 20729918
[TBL] [Abstract][Full Text] [Related]
7. Four distinct ipsilateral vestibular schwannomas: A case of mosaic NF2-related schwannomatosis.
Tunkel AE; Youner ER; Barseghyan H; Fu Y; Bhattacharya S; Bornhorst M; Monfared AS
Am J Clin Pathol; 2024 Mar; ():. PubMed ID: 38527168
[TBL] [Abstract][Full Text] [Related]
8. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Caltabiano R; Magro G; Polizzi A; Praticò AD; Ortensi A; D'Orazi V; Panunzi A; Milone P; Maiolino L; Nicita F; Capone GL; Sestini R; Paganini I; Muglia M; Cavallaro S; Lanzafame S; Papi L; Ruggieri M
Childs Nerv Syst; 2017 Jun; 33(6):933-940. PubMed ID: 28365909
[TBL] [Abstract][Full Text] [Related]
9. Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
Min BJ; Kang YK; Chung YG; Seo ME; Chang KB; Joo MW
Clin Orthop Relat Res; 2020 Nov; 478(11):2442-2450. PubMed ID: 32281771
[TBL] [Abstract][Full Text] [Related]
10. [Phenotype-genotype study in 154 French NF2 mutation carriers].
Demange L; De Moncuit C; Thomas G; Olschwang S
Rev Neurol (Paris); 2007 Nov; 163(11):1031-8. PubMed ID: 18033041
[TBL] [Abstract][Full Text] [Related]
11. Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype
Catasús N; Rosas I; Bonache S; Negro A; Torres-Martin M; Plana-Pla A; Salvador H; Serra E; Blanco I; Castellanos E;
Mol Ther Nucleic Acids; 2022 Dec; 30():493-505. PubMed ID: 36420221
[TBL] [Abstract][Full Text] [Related]
12. Neurofibromatosis type 2 (NF2): a clinical and molecular review.
Evans DG
Orphanet J Rare Dis; 2009 Jun; 4():16. PubMed ID: 19545378
[TBL] [Abstract][Full Text] [Related]
13. Differential rates of germline heterozygote and mosaic variants in
Evans DG; Burghel GJ; Smith MJ
J Med Genet; 2023 Sep; 60(9):838-841. PubMed ID: 36599646
[TBL] [Abstract][Full Text] [Related]
14. Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Perez-Becerril C; Evans DG; Smith MJ
Hum Mutat; 2021 Oct; 42(10):1187-1207. PubMed ID: 34273915
[TBL] [Abstract][Full Text] [Related]
15. Genetic Severity Score predicts clinical phenotype in NF2.
Halliday D; Emmanouil B; Pretorius P; MacKeith S; Painter S; Tomkins H; Evans DG; Parry A
J Med Genet; 2017 Oct; 54(10):657-664. PubMed ID: 28848060
[TBL] [Abstract][Full Text] [Related]
16. Further genotype--phenotype correlations in neurofibromatosis 2.
Selvanathan SK; Shenton A; Ferner R; Wallace AJ; Huson SM; Ramsden RT; Evans DG
Clin Genet; 2010 Feb; 77(2):163-70. PubMed ID: 19968670
[TBL] [Abstract][Full Text] [Related]
17. Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2.
Wang VY; Liu TY; Fang TY; Chen YH; Huang CJ; Wang PC
Acta Otolaryngol; 2022 Jan; 142(1):36-42. PubMed ID: 34915804
[TBL] [Abstract][Full Text] [Related]
18. Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
Fu Y; Huang S; Gao X; Han M; Wang G; Kang D; Yuan Y; Dai P
BMC Med Genomics; 2022 Mar; 15(1):71. PubMed ID: 35346193
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular characterization of neurofibromatosis in southern Brazil.
Rosset C; Vairo F; Cristina Bandeira I; Fonini M; Netto CBO; Ashton-Prolla P
Expert Rev Mol Diagn; 2018 Jun; 18(6):577-586. PubMed ID: 29685074
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]