Terms: = Germ cell tumor AND NF2, ACN, 4771, ENSG00000186575, P35240, SCH, Merlin, BANF AND Diagnosis
304 results:
1. MYCN immunohistochemistry as surrogate marker for MYCN-amplified spinal ependymomas.
Mohan D; Nambirajan A; Malik R; Sharma A; Suri V; Kaur K; Doddamani R; Garg A; Gupta S; Mallick S; Sharma MC
Hum Cell; 2024 May; 37(3):704-713. PubMed ID: 38411836
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2. 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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3. 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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4. 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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5. Comparing Speech Recognition Outcomes Between Cochlear Implants and Auditory Brainstem Implants in Patients With nf2-Related schwannomatosis.
Dornhoffer JR; Plitt AR; Lohse CM; Driscoll CLW; Neff BA; Saoji AA; Van Gompel JJ; Link MJ; Carlson ML
Otol Neurotol; 2024 Jan; 45(1):29-35. PubMed ID: 37875011
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6. Surgical management of sporadic and schwannomatosis-associated pelvic schwannomas.
Peyre M; Gaudric J; Bernat I; André A; Couture T; Kalamarides M
Neurosurg Rev; 2023 Oct; 46(1):275. PubMed ID: 37857782
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7. New classification and approaches to the treatment of schwannomatosis.
Makashova ES; Zolotova SV; Absalyamova OV; Galkin MV; Petrokovskaya AV; Kozlov AV; Golanov AV
Zh Vopr Neirokhir Im N N Burdenko; 2023; 87(5):104-109. PubMed ID: 37830475
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8. 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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9. Longitudinal Performance of Cochlear Implants in Neurofibromatosis Type 2.
Seo S; Shen S; Ding AS; Creighton FX
Laryngoscope; 2024 Apr; 134(4):1847-1853. PubMed ID: 37698390
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10. 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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11. Cases of Mixed schwannoma-Meningioma With and Without Neurofibromatosis 2 with Emphasis on tumorigenesis.
Rajeswarie RT; Mallik D; Rudrappa S; Gopal S
Int J Surg Pathol; 2024 May; 32(3):511-514. PubMed ID: 37487199
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12. 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
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13. Role of Advanced MR Imaging in diagnosis of Neurological Malignancies: Current Status and Future Perspective.
Eraky AM; Beck RT; Treffy RW; Aaronson DM; Hedayat H
J Integr Neurosci; 2023 May; 22(3):73. PubMed ID: 37258452
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14. [Neurofibromatosis].
Matthies C; Rampeltshammer E; Breun M
Fortschr Neurol Psychiatr; 2023 May; 91(5):213-232. PubMed ID: 37192611
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15. Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Koza SA; Tabet AC; Bonaglia MC; Andres S; Anderlid BM; Aten E; Stiefsohn D; ; Evans DG; van Ravenswaaij-Arts CMA; Kant SG
Eur J Med Genet; 2023 Jul; 66(7):104773. PubMed ID: 37120077
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16. 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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17. Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.
Foss-Skiftesvik J; Stoltze UK; van Overeem Hansen T; Ahlborn LB; Sørensen E; Ostrowski SR; Kullegaard SMA; Laspiur AO; Melchior LC; Scheie D; Kristensen BW; Skjøth-Rasmussen J; Schmiegelow K; Wadt K; Mathiasen R
Acta Neuropathol Commun; 2022 Aug; 10(1):123. PubMed ID: 36008825
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18. YAP1-MAML2 fusion in a pediatric nf2-wildtype intraparenchymal brainstem schwannoma.
Karajannis MA; Li BK; Souweidane MM; Liechty B; Yao J; Benhamida JK; Bale TA; Rosenblum MK
Acta Neuropathol Commun; 2022 Aug; 10(1):117. PubMed ID: 35986430
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19. [Rare tumor of internal auditory canal].
Yang BQ; Yang XL; Wu ZY; Wang L; Ren J; Wang WJ; Hua QQ
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2022 Jul; 57(7):843-847. PubMed ID: 35866277
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20. Neurofibromatosis from Head to Toe: What the Radiologist Needs to Know.
Wang MX; Dillman JR; Guccione J; Habiba A; Maher M; Kamel S; Panse PM; Jensen CT; Elsayes KM
Radiographics; 2022; 42(4):1123-1144. PubMed ID: 35749292
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