259 related articles for article (PubMed ID: 31128261)
21. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
Gossai N; Biegel JA; Messiaen L; Berry SA; Moertel CL
Am J Med Genet A; 2015 Dec; 167A(12):3186-91. PubMed ID: 26364901
[TBL] [Abstract][Full Text] [Related]
22. Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.
Li Y; Chen L; Shao D; Zhang B; Xie S; Zheng X; Jiang Z
J Clin Lab Anal; 2022 Jun; 36(6):e24448. PubMed ID: 35446994
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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
[TBL] [Abstract][Full Text] [Related]
26. SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Smith MJ; Wallace AJ; Bowers NL; Eaton H; Evans DG
Cancer Genet; 2014 Sep; 207(9):373-8. PubMed ID: 24933152
[TBL] [Abstract][Full Text] [Related]
27. 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
[TBL] [Abstract][Full Text] [Related]
28. 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
[TBL] [Abstract][Full Text] [Related]
29. Detection of Germline Mutations of the SMARCB1 Gene in a Chinese Family with Intraspinal Schwannomatosis.
Ding Y; Rong H; Wang Y; Liu T; Zhang J; Li S; Wang Z; Wang Y; Zhu T
World Neurosurg; 2019 Mar; 123():318-322. PubMed ID: 30576819
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution.
Li P; Zhao F; Zhang J; Wang Z; Wang X; Wang B; Yang Z; Yang J; Gao Z; Liu P
J Neurosurg Spine; 2016 Jan; 24(1):145-54. PubMed ID: 26407091
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.
Sestini R; Bacci C; Provenzano A; Genuardi M; Papi L
Hum Mutat; 2008 Feb; 29(2):227-31. PubMed ID: 18072270
[TBL] [Abstract][Full Text] [Related]
34. [Familial schwannomatosis, a new entity distinct from neurofibromatosis type 1 and 2].
Reinders JW; Koehler PJ
Ned Tijdschr Geneeskd; 2007 Aug; 151(34):1891-5. PubMed ID: 17902564
[TBL] [Abstract][Full Text] [Related]
35. 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
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Simultaneous Detection of
Bianchessi D; Ibba MC; Saletti V; Blasa S; Langella T; Paterra R; Cagnoli GA; Melloni G; Scuvera G; Natacci F; Cesaretti C; Finocchiaro G; Eoli M
Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32575496
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]