278 related articles for article (PubMed ID: 12792306)
1. 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. PubMed ID: 12792306
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 11590545
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 10973259
[TBL] [Abstract][Full Text] [Related]
4. Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes.
D'Apolito M; Guarnieri V; Boncristiano M; Zelante L; Savoia A
Gene; 2002 Mar; 286(2):215-22. PubMed ID: 11943476
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly.
Matsumoto T; Yanagihara T; Yoshizaki K; Tsuchiya M; Terasaki M; Nagahama K; Shimizu A; Kunishima S; Maeda M
J Nippon Med Sch; 2021 Dec; 88(6):579-584. PubMed ID: 33692298
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 11752022
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 20200500
[TBL] [Abstract][Full Text] [Related]
9. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
Deutsch S; Rideau A; Bochaton-Piallat ML; Merla G; Geinoz A; Gabbiani G; Schwede T; Matthes T; Antonarakis SE; Beris P
Blood; 2003 Jul; 102(2):529-34. PubMed ID: 12649151
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 21210153
[TBL] [Abstract][Full Text] [Related]
11. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.
Pecci A; Noris P; Invernizzi R; Savoia A; Seri M; Ghiggeri GM; Sartore S; Gangarossa S; Bizzaro N; Balduini CL
Br J Haematol; 2002 Apr; 117(1):164-7. PubMed ID: 11918549
[TBL] [Abstract][Full Text] [Related]
12. MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.
Economou M; Batzios SP; Pecci A; Printza N; Savoia A; Barozzi S; Theodoridou S; Teli A; Psillas G; Zafeiriou DI
J Pediatr Hematol Oncol; 2012 Aug; 34(6):412-5. PubMed ID: 22627578
[TBL] [Abstract][Full Text] [Related]
13. Macrothrombocytopenia With Döhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease.
Ruhoy SM; Yates A
Lab Med; 2016 Aug; 47(3):246-50. PubMed ID: 27353381
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes).
Girolami A; Vettore S; Bonamigo E; Fabris F
J Thromb Thrombolysis; 2011 Nov; 32(4):474-7. PubMed ID: 21842307
[TBL] [Abstract][Full Text] [Related]
16. MYH9 Associated nephropathy.
Furlano M; Arlandis R; Venegas MDP; Novelli S; Crespi J; Bullich G; Ayasreh N; Remacha Á; Ruiz P; Lorente L; Ballarín J; Matamala A; Ars E; Torra R
Nefrologia (Engl Ed); 2019; 39(2):133-140. PubMed ID: 30471777
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 11776386
[TBL] [Abstract][Full Text] [Related]
18. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
Seri M; Savino M; Bordo D; Cusano R; Rocca B; Meloni I; Di Bari F; Koivisto PA; Bolognesi M; Ghiggeri GM; Landolfi R; Balduini CL; Zelante L; Ravazzolo R; Renieri A; Savoia A
Hum Genet; 2002 Feb; 110(2):182-6. PubMed ID: 11935325
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
