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Items: 1 to 20 of 200

1.

Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.

Sun XH, Wang ZY, Yang HY, Cao LJ, Su J, Yu ZQ, Bai X, Ruan CG.

Acta Haematol. 2013;129(2):106-13. doi: 10.1159/000342123. Epub 2012 Nov 27.

PMID:
23207509
2.

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 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198.

PMID:
26226608
3.

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi YM, Hosaka N, Inoue M, Jung Y, Mamiya S, Matsumoto K, Miyajima Y, Zhang G, Ruan C, Saito K, Song KS, Yoon HJ, Kamiya T, Saito H.

J Hum Genet. 2001;46(12):722-9.

PMID:
11776386
4.

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. Epub 2006 May 16.

PMID:
16806139
5.

Report of a young girl with MYH9 mutation and review of the literature.

Landi D, Lockhart E, Miller SE, Datto M, Rehder C, Kanaly A, Thornburg CD.

J Pediatr Hematol Oncol. 2012 Oct;34(7):538-40. Review.

PMID:
23007341
6.

Renal manifestations of patients with MYH9-related disorders.

Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI.

Pediatr Nephrol. 2011 Apr;26(4):549-55. doi: 10.1007/s00467-010-1735-3. Epub 2011 Jan 6.

PMID:
21210153
7.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A.

Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476. Epub 2013 Dec 12.

PMID:
24186861
8.

Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.

Kunishima S, Yoshinari M, Nishio H, Ida K, Miura T, Matsushita T, Hamaguchi M, Saito H.

Eur J Haematol. 2007 Mar;78(3):220-6. Epub 2007 Jan 16.

PMID:
17241369
9.

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H.

Lab Invest. 2003 Jan;83(1):115-22.

PMID:
12533692
10.

A notable case report of May-Hegglin anomaly with immune complex-related nephropathy: a genetic and histological analysis.

Ohtsuka Y, Kanaji T, Nishi M, Sakai N, Sato T, Aoki S, Wakayama K, Nakazato S, Hisano S, Sado Y, Kawachi H, Izuhara K, Hamasaki Y.

Clin Nephrol. 2011 Mar;75(3):255-62.

PMID:
21329637
11.

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA.

Am J Hum Genet. 2001 Nov;69(5):1033-45. Epub 2001 Oct 4.

12.

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A.

Clin Genet. 2015 Jul;88(1):85-9. doi: 10.1111/cge.12438. Epub 2014 Jul 26.

PMID:
24890873
13.

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Arrondel C, Vodovar N, Knebelmann B, Grünfeld JP, Gubler MC, Antignac C, Heidet L.

J Am Soc Nephrol. 2002 Jan;13(1):65-74.

14.

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A.

Hum Mutat. 2008 Mar;29(3):409-17.

PMID:
18059020
15.

Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.

Sekine T, Konno M, Sasaki S, Moritani S, Miura T, Wong WS, Nishio H, Nishiguchi T, Ohuchi MY, Tsuchiya S, Matsuyama T, Kanegane H, Ida K, Miura K, Harita Y, Hattori M, Horita S, Igarashi T, Saito H, Kunishima S.

Kidney Int. 2010 Jul;78(2):207-14. doi: 10.1038/ki.2010.21. Epub 2010 Mar 3.

16.

[Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders].

Kunishima S.

Rinsho Byori. 2009 Apr;57(4):365-70. Review. Japanese.

PMID:
19489439
17.

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.

Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, Noris P, Savoia A, Balduini CL, Torti M.

Hum Mol Genet. 2005 Nov 1;14(21):3169-78. Epub 2005 Sep 14.

PMID:
16162639
18.

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A.

Thromb Haemost. 2010 Apr;103(4):826-32. doi: 10.1160/TH09-08-0593. Epub 2010 Feb 19.

PMID:
20174760
19.

Identification of the first in cis mutations in MYH9 disorder.

Miyajima Y, Kunishima S.

Eur J Haematol. 2009 Apr;82(4):288-91. doi: 10.1111/j.1600-0609.2008.01202.x. Epub 2008 Dec 19.

PMID:
19191864
20.

[May-Hegglin anomaly--from genome research to clinical laboratory].

Kunishima S.

Rinsho Byori. 2003 Sep;51(9):898-904. Japanese.

PMID:
14560660

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