Terms: = Skin cancer AND SMARCB1, Ini1, 6598, ENSG00000099956, Snr1, SNF5L1, RDT, BAF47, hSNFS, SNF5, INI1, Sfh1p, Q12824 AND Diagnosis
33 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. 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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3. 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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4. 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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5. 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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6. 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
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7. 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
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8. Diagnostic Pathology of Tumors of Peripheral Nerve.
Belakhoua SM; Rodriguez FJ
Neurosurgery; 2021 Feb; 88(3):443-456. PubMed ID: 33588442
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9. skin maculae, chronic diarrhea, cachexia, and splenomegaly-Late presentation of the first autochthonous case of visceral leishmaniasis in Tanzania.
Henke O; Mapendo PJ; Mremi A; Mmbaga LG; Pallangyo AE; Harbaum T; Mkwizu E
PLoS Negl Trop Dis; 2021 Jan; 15(1):e0008925. PubMed ID: 33444339
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10. 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
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11. [A Case of Familial Schwannomatosis Occurring as Intraorbital Schwannoma].
Miyasaka K; Shibahara I; Hide T; Inukai M; Saegusa M; Nakano Y; Ichimura K; Takaso M; Kumabe T
No Shinkei Geka; 2020 Jan; 48(1):71-77. PubMed ID: 31983691
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12. Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis.
Farschtschi SC; Kluwe L; Schön G; Friedrich RE; Matschke J; Glatzel M; Weis J; Hagel C; Mautner VF
Brain Pathol; 2020 Mar; 30(2):386-391. PubMed ID: 31424590
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13. Multiple primary malignancies associated with a germline smarcb1 pathogenic variant.
Eelloo JA; Smith MJ; Bowers NL; Ealing J; Hulse P; Wylie JP; Shenjere P; Clarke NW; Soh C; Whitehouse RW; Jones M; Duff C; Freemont A; Gareth Evans D
Fam Cancer; 2019 Oct; 18(4):445-449. PubMed ID: 31240424
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14. 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
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15. Detection of Germline Mutations of the smarcb1 Gene in a Chinese Family with Intraspinal Schwannomatosis.
Ding Y; Rong H; Wang Y; Liu T; Zhang J; Li S; Wang Z; Wang Y; Zhu T
World Neurosurg; 2019 Mar; 123():318-322. PubMed ID: 30576819
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16. Pseudomyogenic hemangioendothelioma: a little-known tumor.
Santos RP; Carvalho S; Joana G; Perdal J
Acta Dermatovenerol Alp Pannonica Adriat; 2018 Dec; 27(4):225-229. PubMed ID: 30564838
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17. Malignant Peripheral Nerve Sheath Tumor Arising in Schwannomatosis with Multiple Lung Metastases.
Ding Y; Rong H; Liu T; Wang Y; Zhang J; Li S; Zhu T
World Neurosurg; 2018 Nov; 119():335-339. PubMed ID: 30144611
[TBL] [Abstract] [Full Text] [Related]
18. 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]
19. 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]
20. cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
Evans DGR; Salvador H; Chang VY; Erez A; Voss SD; Druker H; Scott HS; Tabori U
Clin Cancer Res; 2017 Jun; 23(12):e54-e61. PubMed ID: 28620005
[TBL] [Abstract] [Full Text] [Related]
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