105 related articles for article (PubMed ID: 22982478)
1. G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: comment on "A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al.
Kunishima S; Tomii T; Kudo K; Saito H
Eur J Med Genet; 2012 Dec; 55(12):763-5. PubMed ID: 22982478
[No Abstract] [Full Text] [Related]
2. A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect.
Vettore S; De Rocco D; Gerber B; Scandellari R; Bianco AM; Balduini CL; Pecci A; Fabris F; Savoia A
Eur J Med Genet; 2010; 53(5):256-60. PubMed ID: 20603234
[TBL] [Abstract][Full Text] [Related]
3. Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.
De Rocco D; Pujol-Moix N; Pecci A; Faletra F; Bozzi V; Balduini CL; Savoia A
Eur J Med Genet; 2009; 52(4):191-4. PubMed ID: 19450438
[TBL] [Abstract][Full Text] [Related]
4. [Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders].
Kunishima S
Rinsho Byori; 2009 Apr; 57(4):365-70. PubMed ID: 19489439
[TBL] [Abstract][Full Text] [Related]
5. Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family.
Ma ES; Wong CL; Shek TW; Hui SP
Haematologica; 2006 Jul; 91(7):1002-3. PubMed ID: 16818291
[TBL] [Abstract][Full Text] [Related]
6. [Clinical features and genetic analysis of a pedigree affected with non-muscle myosin heavy chain 9 gene related disease].
Zeng Q; Han Y; Huang L; Ji H; Du Y; Yang N; Xu Q; Huang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Apr; 36(4):352-356. PubMed ID: 30950024
[TBL] [Abstract][Full Text] [Related]
7. Identification of the first in cis mutations in MYH9 disorder.
Miyajima Y; Kunishima S
Eur J Haematol; 2009 Apr; 82(4):288-91. PubMed ID: 19191864
[TBL] [Abstract][Full Text] [Related]
8. Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families.
Yi Y; Sen Zhang G; Xu M; San Ling Z; Ru Shao X; Zeng Li J; Ma J
Clin Chim Acta; 2006 Nov; 373(1-2):49-54. PubMed ID: 16806139
[TBL] [Abstract][Full Text] [Related]
9. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).
Ghiggeri GM; Caridi G; Magrini U; Sessa A; Savoia A; Seri M; Pecci A; Romagnoli R; Gangarossa S; Noris P; Sartore S; Necchi V; Ravazzolo R; Balduini CL
Am J Kidney Dis; 2003 Jan; 41(1):95-104. PubMed ID: 12500226
[TBL] [Abstract][Full Text] [Related]
10. Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders.
Kunishima S; Matsushita T; Hamaguchi M; Saito H
Eur J Haematol; 2008 Jun; 80(6):540-4. PubMed ID: 18284620
[TBL] [Abstract][Full Text] [Related]
11. Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.
Marini M; Bruschi M; Pecci A; Romagnoli R; Musante L; Candiano G; Ghiggeri GM; Balduini C; Seri M; Ravazzolo R
Int J Mol Med; 2006 May; 17(5):729-36. PubMed ID: 16596254
[TBL] [Abstract][Full Text] [Related]
12. Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature.
Ishida M; Mori Y; Ota N; Inaba T; Kunishima S
Clin Nephrol; 2013 Sep; 80(3):218-22. PubMed ID: 22541678
[TBL] [Abstract][Full Text] [Related]
13. Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.
Kunishima S; Matsunaga T; Ito Y; Saito H
Genet Test Mol Biomarkers; 2009 Oct; 13(5):705-7. PubMed ID: 19645626
[TBL] [Abstract][Full Text] [Related]
14. The irreversibility of platelet aggregation is regulated by myosin IIA, but is not compromised in MYH9-related disease.
Catricalà S; Guidetti GF; Canobbio I; Pecci A; Balduini CL; Balduini C; Torti M
Thromb Res; 2011 Feb; 127(2):171-3. PubMed ID: 20828798
[No Abstract] [Full Text] [Related]
15. [Mutation analysis for a large Chinese family affected with MYH9-related thrombocytopenia].
Liu H; Li T; Wang H; Guo L; Wu D; Xiao H; Guo Q; Wang T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):629-32. PubMed ID: 27577209
[TBL] [Abstract][Full Text] [Related]
16. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Verver EJ; Topsakal V; Kunst HP; Huygen PL; Heller PG; Pujol-Moix N; Savoia A; Benazzo M; Fierro T; Grolman W; Gresele P; Pecci A
Ear Hear; 2016; 37(1):112-20. PubMed ID: 26226608
[TBL] [Abstract][Full Text] [Related]
17. High-resolution melting analysis for detection of MYH9 mutations.
Provaznikova D; Kumstyrova T; Kotlin R; Salaj P; Matoska V; Hrachovinova I; Rittich S
Platelets; 2008 Sep; 19(6):471-5. PubMed ID: 18925516
[TBL] [Abstract][Full Text] [Related]
18. [Animal models of MYH9 disorders].
Suzuki N; Kunishima S; Naoe T; Matsushita T
Rinsho Ketsueki; 2013 Nov; 54(11):2031-7. PubMed ID: 24305535
[No Abstract] [Full Text] [Related]
19. First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia.
Favier R; Feriel J; Favier M; Denoyelle F; Martignetti JA
Pediatrics; 2013 Sep; 132(3):e793-5. PubMed ID: 23940247
[TBL] [Abstract][Full Text] [Related]
20. Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity of MYH9 variants.
Kunishima S; Yusuke O; Muramatsu H; Kojima D; Nagai N; Takahashi Y; Kojima S
Ann Hematol; 2017 Jun; 96(6):1065-1066. PubMed ID: 28293712
[No Abstract] [Full Text] [Related]
[Next] [New Search]
