138 related articles for article (PubMed ID: 31502250)
21. SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis.
Hulsebos TJ; Kenter S; Siebers-Renelt U; Hans V; Wesseling P; Flucke U
Am J Surg Pathol; 2014 Mar; 38(3):421-5. PubMed ID: 24525513
[TBL] [Abstract][Full Text] [Related]
22. 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
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.
Melean G; Velasco A; Hernández-Imaz E; Rodríguez-Álvarez FJ; Martín Y; Valero A; Hernández-Chico C
Neurogenetics; 2012 Aug; 13(3):267-74. PubMed ID: 22752724
[TBL] [Abstract][Full Text] [Related]
25. Screening of potential novel candidate genes in schwannomatosis patients.
Perez-Becerril C; Wallace AJ; Schlecht H; Bowers NL; Smith PT; Gokhale C; Eaton H; Charlton C; Robinson R; Charlton RS; Evans DG; Smith MJ
Hum Mutat; 2022 Oct; 43(10):1368-1376. PubMed ID: 35723634
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.
Zhang K; Lin JW; Wang J; Wu X; Gao H; Hsieh YC; Hwu P; Liu YR; Su L; Chiou HY; Wang D; Yuan YC; Whang-Peng J; Chiu WT; Yen Y
Genet Med; 2014 Oct; 16(10):787-92. PubMed ID: 24763291
[TBL] [Abstract][Full Text] [Related]
28. SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.
Rousseau G; Noguchi T; Bourdon V; Sobol H; Olschwang S
BMC Neurol; 2011 Jan; 11():9. PubMed ID: 21255467
[TBL] [Abstract][Full Text] [Related]
29. A rare occurrence and management of familial schwannomatosis.
Reddy RG; Banda VR; Gunadal S; Banda NR
BMJ Case Rep; 2013 Apr; 2013():. PubMed ID: 23595180
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Neurofibromatosis and Schwannomatosis.
Plotkin SR; Wick A
Semin Neurol; 2018 Feb; 38(1):73-85. PubMed ID: 29548054
[TBL] [Abstract][Full Text] [Related]
32. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
Piotrowski A; Koczkowska M; Poplawski AB; Bartoszewski R; Króliczewski J; Mieczkowska A; Gomes A; Crowley MR; Crossman DK; Chen Y; Lao P; Serra E; Llach MC; Castellanos E; Messiaen LM
Hum Mutat; 2022 Jan; 43(1):74-84. PubMed ID: 34747535
[TBL] [Abstract][Full Text] [Related]
33. Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ; Walker JA; Shen Y; Stemmer-Rachamimov A; Gusella JF; Plotkin SR
Hum Mol Genet; 2012 Dec; 21(24):5239-45. PubMed ID: 22949514
[TBL] [Abstract][Full Text] [Related]
34. 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
[TBL] [Abstract][Full Text] [Related]
35. Multiple schwannomatosis caused by the recently described INI1 gene--molecular pathology, and implications for prognosis.
Brennan PM; Barlow A; Geraghty A; Summers D; Fitzpatrick MM
Br J Neurosurg; 2011 Jun; 25(3):330-2. PubMed ID: 20854059
[TBL] [Abstract][Full Text] [Related]
36. Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV; Bowers NL; Hartley C; Smith PT; Tobi S; Wallace AJ; King A; Lloyd SKW; Rutherford S; Pathmanaban ON; Hammerbeck-Ward C; Freeman S; Stapleton E; Taylor A; Shaw A; Halliday D; Smith MJ; Evans DG
J Med Genet; 2021 Apr; 58(4):227-233. PubMed ID: 32576656
[TBL] [Abstract][Full Text] [Related]
37. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ; Isidor B; Beetz C; Williams SG; Bhaskar SS; Richer W; O'Sullivan J; Anderson B; Daly SB; Urquhart JE; Fryer A; Rustad CF; Mills SJ; Samii A; du Plessis D; Halliday D; Barbarot S; Bourdeaut F; Newman WG; Evans DG
Neurology; 2015 Jan; 84(2):141-7. PubMed ID: 25480913
[TBL] [Abstract][Full Text] [Related]
38. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B; Nadaf J; Fahiminiya S; Apellaniz-Ruiz M; Saskin A; Chong AS; Sharma S; Wagener R; Revil T; Condello V; Harra Z; Hamel N; Sabbaghian N; Muchantef K; Thomas C; de Kock L; Hébert-Blouin MN; Bassenden AV; Rabenstein H; Mete O; Paschke R; Pusztaszeri MP; Paulus W; Berghuis A; Ragoussis J; Nikiforov YE; Siebert R; Albrecht S; Turcotte R; Hasselblatt M; Fabian MR; Foulkes WD
J Clin Invest; 2020 Mar; 130(3):1479-1490. PubMed ID: 31805011
[TBL] [Abstract][Full Text] [Related]
39. Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Paganini I; Chang VY; Capone GL; Vitte J; Benelli M; Barbetti L; Sestini R; Trevisson E; Hulsebos TJ; Giovannini M; Nelson SF; Papi L
Eur J Hum Genet; 2015 Jul; 23(7):963-8. PubMed ID: 25335493
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]