Terms: = Skin cancer AND LZTR1, ENSG00000099949, 8216, Q8N653, TCFL2, MGC21205, LZTR-1 AND Diagnosis
15 results:
1. Mutated ZRSR2 and CUL3 accelerate clonal evolution and confer venetoclax resistance via RAS signaling pathway in blastic plasmacytoid dendritic cell neoplasm.
Fukuchi K; Koyama D; Takada M; Mori H; Hayashi K; Asano N; Sato Y; Fukatsu M; Takano M; Takahashi H; Shirado-Harada K; Kimura S; Yamamoto T; Ikezoe T
Int J Hematol; 2023 Oct; 118(4):489-493. PubMed ID: 37029861
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2. 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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3. 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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4. 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
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5. 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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6. [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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7. 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
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8. 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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9. 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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10. 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
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11. 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
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12. 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
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13. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude lztr1-related schwannomatosis.
Smith MJ; Bowers NL; Bulman M; Gokhale C; Wallace AJ; King AT; Lloyd SK; Rutherford SA; Hammerbeck-Ward CL; Freeman SR; Evans DG
Neurology; 2017 Jan; 88(1):87-92. PubMed ID: 27856782
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14. Creation of an international registry to support discovery in schwannomatosis.
Ostrow KL; Bergner AL; Blakeley J; Evans DG; Ferner R; Friedman JM; Harris GJ; Jordan JT; Korf B; Langmead S; Leschziner G; Mautner V; Merker VL; Papi L; Plotkin SR; Slopis JM; Smith MJ; Stemmer-Rachamimov A; Yohay K; Belzberg AJ
Am J Med Genet A; 2017 Feb; 173(2):407-413. PubMed ID: 27759912
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15. 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
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