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4. SWI/SNF chromatin remodeling complexes and cancer. Biegel JA; Busse TM; Weissman BE Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):350-66. PubMed ID: 25169151 [TBL] [Abstract][Full Text] [Related]
5. The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis. Allen MD; Freund SM; Zinzalla G; Bycroft M Structure; 2015 Jul; 23(7):1344-9. PubMed ID: 26073604 [TBL] [Abstract][Full Text] [Related]
6. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Kehrer-Sawatzki H; Farschtschi S; Mautner VF; Cooper DN Hum Genet; 2017 Feb; 136(2):129-148. PubMed ID: 27921248 [TBL] [Abstract][Full Text] [Related]
7. Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. Smith MJ; Kulkarni A; Rustad C; Bowers NL; Wallace AJ; Holder SE; Heiberg A; Ramsden RT; Evans DG Am J Med Genet A; 2012 Jan; 158A(1):215-9. PubMed ID: 22105938 [TBL] [Abstract][Full Text] [Related]
8. 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 [TBL] [Abstract][Full Text] [Related]
9. Neurofibromas in LZTR1 schwannomatosis. Groen JL; Moghadasi S; Spruijt L; Korpershoek E; van Ierland Y; van Wezel JT; van Duinen S; Malessy MJA; Lesnik Oberstein SAJ Clin Genet; 2022 May; 101(5-6):571-572. PubMed ID: 35178712 [No Abstract] [Full Text] [Related]
10. DGCR8 and the six hit, three-step model of schwannomatosis. Nogué C; Chong AS; Grau E; Han H; Dorca E; Roca C; Mosquera JL; Lázaro C; Foulkes WD; Brunet J; Rivera B Acta Neuropathol; 2022 Jan; 143(1):115-117. PubMed ID: 34821987 [No Abstract] [Full Text] [Related]
11. 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]
12. Is there a link between COQ6 and schwannomatosis? Trevisson E; Clementi M; Salviati L Genet Med; 2015 Apr; 17(4):312-3. PubMed ID: 25835193 [No Abstract] [Full Text] [Related]
13. A deep intronic SMARCB1 variant associated with schwannomatosis. Smith MJ; Bowers NL; Banks C; Coates-Brown R; Morris KA; Ewans L; Wilson M; Pinner J; Bhaskar SS; Cammarata-Scalisi F; Wallace AJ; Evans DGR Clin Genet; 2020 Feb; 97(2):376-377. PubMed ID: 31502250 [No Abstract] [Full Text] [Related]
14. Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma. Wu J; Kong M; Bi Q J Neurooncol; 2015 Nov; 125(2):439-41. PubMed ID: 26342709 [No Abstract] [Full Text] [Related]
15. Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis. Paganini I; Sestini R; Cacciatore M; Capone GL; Candita L; Paolello C; Sbaraglia M; Dei Tos AP; Rossi S; Papi L Hum Pathol; 2015 Aug; 46(8):1226-31. PubMed ID: 26001331 [TBL] [Abstract][Full Text] [Related]
16. Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Smith MJ; Wallace AJ; Bowers NL; Rustad CF; Woods CG; Leschziner GD; Ferner RE; Evans DG Neurogenetics; 2012 May; 13(2):141-5. PubMed ID: 22434358 [TBL] [Abstract][Full Text] [Related]
17. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Hutter S; Piro RM; Reuss DE; Hovestadt V; Sahm F; Farschtschi S; Kehrer-Sawatzki H; Wolf S; Lichter P; von Deimling A; Schuhmann MU; Pfister SM; Jones DT; Mautner VF Acta Neuropathol; 2014 Sep; 128(3):449-52. PubMed ID: 25008767 [No Abstract] [Full Text] [Related]
18. Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. Farschtschi S; Mautner VF; Pham M; Nguyen R; Kehrer-Sawatzki H; Hutter S; Friedrich RE; Schulz A; Morrison H; Jones DT; Bendszus M; Bäumer P Ann Neurol; 2016 Oct; 80(4):625-8. PubMed ID: 27472264 [TBL] [Abstract][Full Text] [Related]
19. Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type. Karnezis AN; Wang Y; Ramos P; Hendricks WP; Oliva E; D'Angelo E; Prat J; Nucci MR; Nielsen TO; Chow C; Leung S; Kommoss F; Kommoss S; Silva A; Ronnett BM; Rabban JT; Bowtell DD; Weissman BE; Trent JM; Gilks CB; Huntsman DG J Pathol; 2016 Feb; 238(3):389-400. PubMed ID: 26356327 [TBL] [Abstract][Full Text] [Related]
20. Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Plotkin SR; Blakeley JO; Evans DG; Hanemann CO; Hulsebos TJ; Hunter-Schaedle K; Kalpana GV; Korf B; Messiaen L; Papi L; Ratner N; Sherman LS; Smith MJ; Stemmer-Rachamimov AO; Vitte J; Giovannini M Am J Med Genet A; 2013 Mar; 161A(3):405-16. PubMed ID: 23401320 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]