Terms: = Skin cancer AND NF2, ACN, 4771, ENSG00000186575, P35240, SCH, Merlin, BANF AND Diagnosis
64 results:
1. Improved sensitivity for detection of pathogenic variants in familial
Perez-Becerril C; Burghel GJ; Hartley C; Rowlands CF; Evans DG; Smith MJ
J Med Genet; 2024 Apr; 61(5):452-458. PubMed ID: 38302265
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2. Perspectives of adults with neurofibromatosis regarding the design of psychosocial trials: Results from an anonymous online survey.
Wolters PL; Ghriwati NA; Baker M; Martin S; Berg D; Erickson G; Franklin B; Merker VL; Oberlander B; Reeve S; Rohl C; Rosser T; Vranceanu AM
Clin Trials; 2024 Feb; 21(1):73-84. PubMed ID: 37962219
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3. Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution.
Debs P; Belzberg A; Blakeley J; Fayad L; Langmead S; Little E; Romo C; Schatz K; Slobogean B; Ahlawat S
Skeletal Radiol; 2024 May; 53(5):909-916. PubMed ID: 37950060
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4. schwannomatosis: a Realm Reborn: year one.
Planet M; Kalamarides M; Peyre M
Curr Opin Oncol; 2023 Nov; 35(6):550-557. PubMed ID: 37820090
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5. CP-GEP (merlin) gene expression profiling: can my melanoma patient forgo sentinel lymph node biopsy?
Quattrocchi E; Meves ES; Meves A
Ital J Dermatol Venerol; 2023 Aug; 158(4):292-301. PubMed ID: 37539500
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6. Extremely rare pediatric primary scrotum tumor: spermatic cord hemolymphangioma for a case report and literature review.
Liu L; Xiao Y; Yue X; Wang Q
World J Surg Oncol; 2023 Jul; 21(1):226. PubMed ID: 37495989
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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. Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.
Legoupil S; Bessis D; Picard F; Mallet S; Mazereeuw J; Phan A; Dupin-Deguine D; Kalamarides M; ; Chiaverini C
Orphanet J Rare Dis; 2022 Jun; 17(1):242. PubMed ID: 35729665
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9. Breslow thickness 2.0: Why gene expression profiling is a step toward better patient selection for sentinel lymph node biopsies.
Sadurní MB; Meves A
Mod Pathol; 2022 Nov; 35(11):1509-1514. PubMed ID: 35654998
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10. Genetic testing to gain diagnostic clarity in neurofibromatosis type 2 and schwannomatosis.
Burns R; Niendorf K; Steinberg K; Mueller A; Ly I; Jordan JT; Plotkin SR; Hicks SR
Am J Med Genet A; 2022 Aug; 188(8):2413-2420. PubMed ID: 35638454
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11. 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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12. A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression.
Anderson WJ; Tsai HK; Sholl LM; Hirsch MS
Int J Surg Pathol; 2022 Sep; 30(6):606-615. PubMed ID: 35048731
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13. Angiokeratoma Circumscriptum Naeviforme Presenting as a Dark Warty Plaque on the Leg.
Abbenante D; Raone B; Baraldi C; Anna Carpanese M; Patrizi A
Acta Dermatovenerol Croat; 2021 Dec; 29(3):169-170. PubMed ID: 34990348
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14. Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.
Bettegowda C; Upadhayaya M; Evans DG; Kim A; Mathios D; Hanemann CO;
Neurology; 2021 Aug; 97(7 Suppl 1):S91-S98. PubMed ID: 34230207
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15. 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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16. Atypical cellular neurothekeoma (acn) of the elderly: case report and brief review of the literature.
D'Alessandris N; Picchetto A; Pignataro MG; Cerbelli B; Manzo D; Rocca CD; d'Amati G; Pernazza A
Pathologica; 2020 Dec; 112(4):210-213. PubMed ID: 33393524
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17. Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
Radtke HB; Bergner AL; Goetsch AL; McGowan C; Panzer K; Cannon A
J Genet Couns; 2020 Oct; 29(5):692-714. PubMed ID: 32602153
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18. 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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19. Molecular testing in metastatic basal cell carcinoma.
Verkouteren BJA; Wakkee M; van Geel M; van Doorn R; Winnepenninckx VJ; Korpershoek E; Mooyaart AL; Reyners AKL; Terra JB; Aarts MJB; Reinders MGHC; Mosterd K
J Am Acad Dermatol; 2021 Nov; 85(5):1135-1142. PubMed ID: 31870915
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20. The diagnosis and Management of Neurofibromatosis Type 1.
Ly KI; Blakeley JO
Med Clin North Am; 2019 Nov; 103(6):1035-1054. PubMed ID: 31582003
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