Terms: = Skin cancer AND SMARCB1, Ini1, 6598, ENSG00000099956, Snr1, SNF5L1, RDT, BAF47, hSNFS, SNF5, INI1, Sfh1p, Q12824
104 results:
1. Schwannomatosis: a Realm Reborn: year one.
Planet M; Kalamarides M; Peyre M
Curr Opin Oncol; 2023 Nov; 35(6):550-557. PubMed ID: 37820090
[TBL] [Abstract] [Full Text] [Related]
2. The SWI/SNF Complex in Neural Crest Cell Development and Disease.
Fountain DM; Sauka-Spengler T
Annu Rev Genomics Hum Genet; 2023 Aug; 24():203-223. PubMed ID: 37624665
[TBL] [Abstract] [Full Text] [Related]
3. Fine needle aspiration cytopathology of pleomorphic dermal sarcoma.
Challa BS; Plaza JA; Wakely PE
Cytopathology; 2023 Sep; 34(5):472-478. PubMed ID: 37204069
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4. Primary Epithelioid Sarcoma of the Conchal Bowl in a 64-Year-Old Male: A Case Report and Review of the Literature.
Li L; Bailiff OA; Blanchard B; Gardner JM
Am J Dermatopathol; 2023 Jun; 45(6):383-387. PubMed ID: 37191372
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5. Conformity of yaws clinical features to combined rapid diagnostic test in children aged 2-15 years in an endemic area.
Menaldi SLS; Natasha J; Saputra J; Marissa M; Irawan Y; Friska D; Wahyudi DT
J Infect Dev Ctries; 2022 Dec; 16(12):1914-1920. PubMed ID: 36753660
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6. Cardiac myxoma with atypical cell population mimicking malignancy - a diagnostic pitfall.
Stejskal V; Steiner I; Vobornik M
Cardiovasc Pathol; 2023; 63():107511. PubMed ID: 36462616
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7. A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline
Lee JH; Jeong JS; Chae KJ; Han YH; Kim SR; Lee YC
Medicina (Kaunas); 2022 Nov; 58(11):. PubMed ID: 36363549
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8. A rapidly growing cutaneous malignant glomus tumor with a CCND3 mutation.
Kitz R; Leung O; Royer M
J Cutan Pathol; 2023 Feb; 50(2):113-117. PubMed ID: 36059094
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9. Metastatic smarcb1 Deficient skin Carcinoma With Neuroendocrine Differentiation in the Parotid Glands Clinically Mimicking Primary Salivary Gland Malignancy: Unusual Case With Diagnostic Pitfalls.
Fang F; Zhang QI; Pinto-Cuberos JM; Lai J
Anticancer Res; 2022 Aug; 42(8):3971-3974. PubMed ID: 35896245
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10. WP1066 induces cell death in a schwannomatosis patient-derived schwannoma cell line.
Allaf A; Victoria B; Rosario R; Misztal C; Humayun Gultekin S; Dinh CT; Fernandez-Valle C
Cold Spring Harb Mol Case Stud; 2022 Jun; 8(4):. PubMed ID: 35732500
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11. 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]
12. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR; Messiaen L; Legius E; Pancza P; Avery RA; Blakeley JO; Babovic-Vuksanovic D; Ferner R; Fisher MJ; Friedman JM; Giovannini M; Gutmann DH; Hanemann CO; Kalamarides M; Kehrer-Sawatzki H; Korf BR; Mautner VF; MacCollin M; Papi L; Rauen KA; Riccardi V; Schorry E; Smith MJ; Stemmer-Rachamimov A; Stevenson DA; Ullrich NJ; Viskochil D; Wimmer K; Yohay K; ; Huson SM; Wolkenstein P; Evans DG
Genet Med; 2022 Sep; 24(9):1967-1977. PubMed ID: 35674741
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13. An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior.
Patton A; Oghumu S; Iwenofu OH
Genes Chromosomes Cancer; 2022 Oct; 61(10):635-640. PubMed ID: 35639915
[TBL] [Abstract] [Full Text] [Related]
14. Hereditary intraspinal schwannomatosis with smarcb1 gene mutation: A case report.
Li Y; Chen L; Shao D; Zhang B; Xie S; Zheng X; Jiang Z
J Clin Lab Anal; 2022 Jun; 36(6):e24448. PubMed ID: 35446994
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15. 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
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16. ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Evans DG; Mostaccioli S; Pang D; Fadzil O Connor M; Pittara M; Champollion N; Wolkenstein P; Thomas N; Ferner RE; Kalamarides M; Peyre M; Papi L; Legius E; Becerra JL; King A; Duff C; Stivaros S; Blanco I
Eur J Hum Genet; 2022 Jul; 30(7):812-817. PubMed ID: 35361920
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17. Myoepithelial carcinoma of soft tissue is a diagnostic challenge on fine-needle aspiration: Case report and review of literature.
Wang L; Yee-Chang M; Sun W; Melamed J; Simsir A; Shi Y
Diagn Cytopathol; 2022 Jul; 50(7):E203-E209. PubMed ID: 35224892
[TBL] [Abstract] [Full Text] [Related]
18. In Vivo Study of the Efficacy and Safety of 5-Aminolevulinic Radiodynamic Therapy for Glioblastoma Fractionated Radiotherapy.
Takahashi J; Nagasawa S; Doi M; Takahashi M; Narita Y; Yamamoto J; Ikemoto MJ; Iwahashi H
Int J Mol Sci; 2021 Sep; 22(18):. PubMed ID: 34575921
[TBL] [Abstract] [Full Text] [Related]
19. 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]
20. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.
Tamura R
Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34072574
[TBL] [Abstract] [Full Text] [Related]
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