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Results: 1 to 20 of 124

Similar articles for PubMed (Select 24186861)

1.

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
2.

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
3.

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.

De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A.

Eur J Med Genet. 2013 Jan;56(1):7-12. doi: 10.1016/j.ejmg.2012.10.009. Epub 2012 Oct 30.

4.

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
5.

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
6.

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
7.

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.

8.

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.

9.

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.

PMID:
20200500
10.

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Balduini CL, Pecci A, Savoia A.

Br J Haematol. 2011 Jul;154(2):161-74. doi: 10.1111/j.1365-2141.2011.08716.x. Epub 2011 May 4. Review.

PMID:
21542825
11.

Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

Mhatre AN, Kim Y, Brodie HA, Lalwani AK.

Otol Neurotol. 2003 Mar;24(2):205-9.

PMID:
12621333
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. doi: 10.5414/CN107237. Review.

PMID:
22541678
13.

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.

Pecci A, Bozzi V, Panza E, Barozzi S, Gruppi C, Seri M, Balduini CL.

Thromb Haemost. 2011 Oct;106(4):693-704. doi: 10.1160/TH11-02-0126. Epub 2011 Aug 11.

PMID:
21833445
14.

MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.

Pecci A, Panza E, De Rocco D, Pujol-Moix N, Girotto G, Podda L, Paparo C, Bozzi V, Pastore A, Balduini CL, Seri M, Savoia A.

Eur J Haematol. 2010 Apr;84(4):291-7. doi: 10.1111/j.1600-0609.2009.01398.x. Epub 2009 Dec 11.

PMID:
20002731
15.

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A.

Medicine (Baltimore). 2003 May;82(3):203-15.

PMID:
12792306
16.

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

de Rocco D, Heller PG, Girotto G, Pastore A, Glembotsky AC, Marta RF, Bozzi V, Pecci A, Molinas FC, Savoia A.

Platelets. 2009 Dec;20(8):598-602. doi: 10.3109/09537100903349620.

PMID:
19860543
17.

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

Kunishima S.

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

PMID:
19489439
18.

[Hereditary sensorineural hearing impairment and macrothrombocytopenia: a rare MYH9 gene mutation].

Böttcher A, Knecht R, Busch CJ, Lörincz BB, Dalchow CV.

HNO. 2013 Feb;61(2):159-60, 162-5. doi: 10.1007/s00106-012-2521-2. German.

PMID:
23223919
19.

Familial cases with MYH9 disorders caused by MYH9 S96L mutation.

Murayama S, Akiyama M, Namba H, Wada Y, Ida H, Kunishima S.

Pediatr Int. 2013 Feb;55(1):102-4. doi: 10.1111/j.1442-200X.2012.03619.x.

PMID:
23409987
20.

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA.

Nat Genet. 2000 Sep;26(1):103-5.

PMID:
10973259
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