158 related articles for article (PubMed ID: 33269527)
1. LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis.
Muthusamy K; Mrugala MM; Bendok BR; Dhamija R
Mol Genet Genomic Med; 2021 Jan; 9(1):e1560. PubMed ID: 33269527
[TBL] [Abstract][Full Text] [Related]
2. Coexistence of schwannomatosis and glioblastoma in two families.
Deiller C; Van-Gils J; Zordan C; Tinat J; Loiseau H; Fabre T; Delleci C; Cohen J; Vidaud M; Parfait B; Goizet C
Eur J Med Genet; 2019 Aug; 62(8):103680. PubMed ID: 31128261
[TBL] [Abstract][Full Text] [Related]
3. Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation.
Mehta GU; Feldman MJ; Wang H; Ding D; Chittiboina P
J Neurosurg; 2016 Dec; 125(6):1469-1471. PubMed ID: 26848914
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
Gossai N; Biegel JA; Messiaen L; Berry SA; Moertel CL
Am J Med Genet A; 2015 Dec; 167A(12):3186-91. PubMed ID: 26364901
[TBL] [Abstract][Full Text] [Related]
7. Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.
Deng F; Evans DG; Smith MJ
Hum Mutat; 2022 Jul; 43(7):919-927. PubMed ID: 35391499
[TBL] [Abstract][Full Text] [Related]
8. Segmental schwannomatosis: characteristics in 12 patients.
Alaidarous A; Parfait B; Ferkal S; Cohen J; Wolkenstein P; Mazereeuw-Hautier J
Orphanet J Rare Dis; 2019 Aug; 14(1):207. PubMed ID: 31438995
[TBL] [Abstract][Full Text] [Related]
9. Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Paganini I; Chang VY; Capone GL; Vitte J; Benelli M; Barbetti L; Sestini R; Trevisson E; Hulsebos TJ; Giovannini M; Nelson SF; Papi L
Eur J Hum Genet; 2015 Jul; 23(7):963-8. PubMed ID: 25335493
[TBL] [Abstract][Full Text] [Related]
10. The Secretomes of Painful Versus Nonpainful Human Schwannomatosis Tumor Cells Differentially Influence Sensory Neuron Gene Expression and Sensitivity.
Ostrow KL; Donaldson KJ; Caterina MJ; Belzberg A; Hoke A
Sci Rep; 2019 Sep; 9(1):13098. PubMed ID: 31511601
[TBL] [Abstract][Full Text] [Related]
11. Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
Farschtschi S; Mautner VF; Pham M; Nguyen R; Kehrer-Sawatzki H; Hutter S; Friedrich RE; Schulz A; Morrison H; Jones DT; Bendszus M; Bäumer P
Ann Neurol; 2016 Oct; 80(4):625-8. PubMed ID: 27472264
[TBL] [Abstract][Full Text] [Related]
12. Schwannomatosis: a genetic and epidemiological study.
Evans DG; Bowers NL; Tobi S; Hartley C; Wallace AJ; King AT; Lloyd SKW; Rutherford SA; Hammerbeck-Ward C; Pathmanaban ON; Freeman SR; Ealing J; Kellett M; Laitt R; Thomas O; Halliday D; Ferner R; Taylor A; Duff C; Harkness EF; Smith MJ
J Neurol Neurosurg Psychiatry; 2018 Nov; 89(11):1215-1219. PubMed ID: 29909380
[TBL] [Abstract][Full Text] [Related]
13. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ; Isidor B; Beetz C; Williams SG; Bhaskar SS; Richer W; O'Sullivan J; Anderson B; Daly SB; Urquhart JE; Fryer A; Rustad CF; Mills SJ; Samii A; du Plessis D; Halliday D; Barbarot S; Bourdeaut F; Newman WG; Evans DG
Neurology; 2015 Jan; 84(2):141-7. PubMed ID: 25480913
[TBL] [Abstract][Full Text] [Related]
14. Pain correlates with germline mutation in schwannomatosis.
Jordan JT; Smith MJ; Walker JA; Erdin S; Talkowski ME; Merker VL; Ramesh V; Cai W; Harris GJ; Bredella MA; Seijo M; Suuberg A; Gusella JF; Plotkin SR
Medicine (Baltimore); 2018 Feb; 97(5):e9717. PubMed ID: 29384852
[TBL] [Abstract][Full Text] [Related]
15. Simultaneous Detection of
Bianchessi D; Ibba MC; Saletti V; Blasa S; Langella T; Paterra R; Cagnoli GA; Melloni G; Scuvera G; Natacci F; Cesaretti C; Finocchiaro G; Eoli M
Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32575496
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma.
Wu J; Kong M; Bi Q
J Neurooncol; 2015 Nov; 125(2):439-41. PubMed ID: 26342709
[No Abstract] [Full Text] [Related]
18. 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]
19. Screening of potential novel candidate genes in schwannomatosis patients.
Perez-Becerril C; Wallace AJ; Schlecht H; Bowers NL; Smith PT; Gokhale C; Eaton H; Charlton C; Robinson R; Charlton RS; Evans DG; Smith MJ
Hum Mutat; 2022 Oct; 43(10):1368-1376. PubMed ID: 35723634
[TBL] [Abstract][Full Text] [Related]
20. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H; Farschtschi S; Mautner VF; Cooper DN
Hum Genet; 2017 Feb; 136(2):129-148. PubMed ID: 27921248
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]