Terms: = Germ cell tumor AND LZTR1, ENSG00000099949, 8216, Q8N653, TCFL2, MGC21205, LZTR-1 AND Diagnosis
22 results:
1. 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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2. Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the
Basenach E; Förster A; Raab P; Alzein S; Schmidt G; Krauss JK; Schlegelberger B; Heidenreich F; Auber B; Hartmann C; Wiese B; Weber RG
Clin Neuropathol; 2022; 41(4):162-167. PubMed ID: 35445657
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3. 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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4. Multiple Meningiomas as a Criterion for the diagnosis of Neurofibromatosis Type 2 and Other tumor Predisposition Syndromes.
Hannan CJ; Hammerbeck-Ward C; Pathmanaban ON; Smith MJ; Rutherford SA; Lloyd SK; Mackenzie Freeman SR; Wallace AJ; King AT; Richard Evans DG
Neurosurgery; 2022 Jun; 90(6):793-799. PubMed ID: 35343466
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5. 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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6. 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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7. 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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8. [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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9. 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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10. 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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11. 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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12. Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.
Evans DG; King AT; Bowers NL; Tobi S; Wallace AJ; Perry M; Anup R; Lloyd SKL; Rutherford SA; Hammerbeck-Ward C; Pathmanaban ON; Stapleton E; Freeman SR; Kellett M; Halliday D; Parry A; Gair JJ; Axon P; Laitt R; Thomas O; Afridi S; Ferner RE; Harkness EF; Smith MJ;
Genet Med; 2019 Jul; 21(7):1525-1533. PubMed ID: 30523344
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13. 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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14. 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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15. Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.
Mills JR; Moyer AM; Kipp BR; Poplawski AB; Messiaen LM; Babovic-Vuksanovic D
Clin Genet; 2018 Jan; 93(1):187-190. PubMed ID: 28737257
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16. 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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17. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Caltabiano R; Magro G; Polizzi A; Praticò AD; Ortensi A; D'Orazi V; Panunzi A; Milone P; Maiolino L; Nicita F; Capone GL; Sestini R; Paganini I; Muglia M; Cavallaro S; Lanzafame S; Papi L; Ruggieri M
Childs Nerv Syst; 2017 Jun; 33(6):933-940. PubMed ID: 28365909
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18. Constitutional lztr1 mutation presenting with a unilateral vestibular schwannoma in a teenager.
Gripp KW; Baker L; Kandula V; Piatt J; Walter A; Chen Z; Messiaen L
Clin Genet; 2017 Nov; 92(5):540-543. PubMed ID: 28295212
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19. 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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20. 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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