169 related articles for article (PubMed ID: 34918118)
1. Origins of biallelic inactivation of NF2 in neurofibromatosis type 2.
Xue L; He W; Zhang Y; Wang Z; Chen H; Chen Z; Zhu W; Liu D; Jia H; Jiang Y; Wang Z; Wu H
Neuro Oncol; 2022 Jun; 24(6):903-913. PubMed ID: 34918118
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C; Pasmant E; Briand-Suleau A; Cohen J; Nitschké P; Nectoux J; Orhant L; Zordan C; Goizet C; Goutagny S; Lallemand D; Vidaud M; Vidaud D; Kalamarides M; Parfait B
Neuro Oncol; 2018 Jun; 20(7):917-929. PubMed ID: 29409008
[TBL] [Abstract][Full Text] [Related]
4. Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans DG; Hartley CL; Smith PT; King AT; Bowers NL; Tobi S; Wallace AJ; Perry M; Anup R; Lloyd SKW; Rutherford SA; Hammerbeck-Ward C; Pathmanaban ON; Stapleton E; Freeman SR; Kellett M; Halliday D; Parry A; Gair JJ; Axon P; Laitt R; Thomas O; Afridi SK; Obholzer R; ; Duff C; Stivaros SM; Vassallo G; Harkness EF; Smith MJ
Genet Med; 2020 Jan; 22(1):53-59. PubMed ID: 31273341
[TBL] [Abstract][Full Text] [Related]
5. Application of COLD-PCR for improved detection of NF2 mosaic mutations.
Paganini I; Mancini I; Baroncelli M; Arena G; Gensini F; Papi L; Sestini R
J Mol Diagn; 2014 Jul; 16(4):393-9. PubMed ID: 24815379
[TBL] [Abstract][Full Text] [Related]
6. Molecular Analysis of a Patient With Neurofibromatosis 2 (NF2) and Peritoneal Malignant Mesothelioma.
Glass C; Sholl LM; Landgraf JR; Chirieac L; Roggli VL
Am J Surg Pathol; 2020 Feb; 44(2):288-292. PubMed ID: 31567203
[TBL] [Abstract][Full Text] [Related]
7. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.
Kluwe L; Mautner V; Heinrich B; Dezube R; Jacoby LB; Friedrich RE; MacCollin M
J Med Genet; 2003 Feb; 40(2):109-14. PubMed ID: 12566519
[TBL] [Abstract][Full Text] [Related]
8. Somatic Mosaicism of NF2 Gene Mutation with Constitutional NF1 Gene Mutation in Neurofibromatosis Type 2: a Case Report.
Yoo SJ; Hwang YS
Clin Lab; 2020 Nov; 66(11):. PubMed ID: 33180429
[TBL] [Abstract][Full Text] [Related]
9. NF2: the wizardry of merlin.
Xiao GH; Chernoff J; Testa JR
Genes Chromosomes Cancer; 2003 Dec; 38(4):389-99. PubMed ID: 14566860
[TBL] [Abstract][Full Text] [Related]
10. [Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression].
Drouet A; Le Moigne F; Salamé D; Quesnel L; Motolese C; des Portes V; Guilloton L; Pinson S
Arch Pediatr; 2014 Nov; 21(11):1233-40. PubMed ID: 25439059
[TBL] [Abstract][Full Text] [Related]
11. Current progress in genomics and targeted therapies for neurofibromatosis type 2.
Hiruta R; Saito K; Bakhit M; Fujii M
Fukushima J Med Sci; 2023 Aug; 69(2):95-103. PubMed ID: 37468280
[TBL] [Abstract][Full Text] [Related]
12. Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.
Castellanos E; Bielsa I; Carrato C; Rosas I; Solanes A; Hostalot C; Amilibia E; Prades J; Roca-Ribas F; Lázaro C; Blanco I; Serra E;
BMC Med Genomics; 2015 Jan; 8():2. PubMed ID: 25739810
[TBL] [Abstract][Full Text] [Related]
13. Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants.
Carlson ML; Smadbeck JB; Link MJ; Klee EW; Vasmatzis G; Schimmenti LA
Otol Neurotol; 2018 Oct; 39(9):e860-e871. PubMed ID: 30106846
[TBL] [Abstract][Full Text] [Related]
14. Mosaicism in sporadic neurofibromatosis 2 patients.
Kluwe L; Mautner VF
Hum Mol Genet; 1998 Dec; 7(13):2051-5. PubMed ID: 9817921
[TBL] [Abstract][Full Text] [Related]
15. Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function.
Yang C; Asthagiri AR; Iyer RR; Lu J; Xu DS; Ksendzovsky A; Brady RO; Zhuang Z; Lonser RR
Proc Natl Acad Sci U S A; 2011 Mar; 108(12):4980-5. PubMed ID: 21383154
[TBL] [Abstract][Full Text] [Related]
16. Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
Pasmant E; Louvrier C; Luscan A; Cohen J; Laurendeau I; Vidaud M; Vidaud D; Goutagny S; Kalamarides M; Parfait B
Neurochirurgie; 2018 Nov; 64(5):335-341. PubMed ID: 26073919
[TBL] [Abstract][Full Text] [Related]
17. Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.
Diebold R; Bartelt-Kirbach B; Evans DG; Kaufmann D; Hanemann CO
J Mol Diagn; 2005 Feb; 7(1):97-104. PubMed ID: 15681480
[TBL] [Abstract][Full Text] [Related]
18. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
Smith MJ; Bowers NL; Bulman M; Gokhale C; Wallace AJ; King AT; Lloyd SK; Rutherford SA; Hammerbeck-Ward CL; Freeman SR; Evans DG
Neurology; 2017 Jan; 88(1):87-92. PubMed ID: 27856782
[TBL] [Abstract][Full Text] [Related]
19. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
Baser ME; Kuramoto L; Woods R; Joe H; Friedman JM; Wallace AJ; Ramsden RT; Olschwang S; Bijlsma E; Kalamarides M; Papi L; Kato R; Carroll J; Lázaro C; Joncourt F; Parry DM; Rouleau GA; Evans DG
J Med Genet; 2005 Jul; 42(7):540-6. PubMed ID: 15994874
[TBL] [Abstract][Full Text] [Related]
20. Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.
Sestini R; Vivarelli R; Balestri P; Ammannati F; Montali E; Papi L
Hum Genet; 2000 Oct; 107(4):366-71. PubMed ID: 11129337
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
