162 related articles for article (PubMed ID: 19860543)
41. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
Lalwani AK; Goldstein JA; Kelley MJ; Luxford W; Castelein CM; Mhatre AN
Am J Hum Genet; 2000 Nov; 67(5):1121-8. PubMed ID: 11023810
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. 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]
44. 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. PubMed ID: 21329637
[TBL] [Abstract][Full Text] [Related]
45. A D1424N mutation in the MYH9 gene results in macrothrombocytopenia and granulocytic inclusion bodies in a Chinese inherited macrothrombocytopenia pedigree.
Guo X; Lian X; Zhang W; Hao J
Clin Chem Lab Med; 2018 Jun; 56(7):e171-e173. PubMed ID: 29451856
[No Abstract] [Full Text] [Related]
46. Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.
Okano S; Takase M; Iseki K; Toriumi N; Kaneda M; Kunishima S
J Pediatr Hematol Oncol; 2015 Aug; 37(6):e352-5. PubMed ID: 26056797
[TBL] [Abstract][Full Text] [Related]
47. Genotype-phenotype correlation of a novel MYH9 mutation (p.G736L) in a patient with macrothrombocytopenia and end-stage renal disease.
Souto Filho JTD; Lemos MM; Piraciaba JCB; Silveira ALO; Lacerda AP; Pires AZ; de Sales LR; Dias YP
Ann Hematol; 2019 Mar; 98(3):781-782. PubMed ID: 30617524
[No Abstract] [Full Text] [Related]
48. 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]
49. Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations.
Aoki T; Kunishima S; Yamashita Y; Minamitani K; Ota S
J Pediatr Hematol Oncol; 2018 Jan; 40(1):76-78. PubMed ID: 29200148
[TBL] [Abstract][Full Text] [Related]
50. Clinical and molecular genetic analysis of a family with macrothrombocytopenia and early onset sensorineural hearing loss.
Mhatre AN; Janssens S; Nardi MA; Li Y; Lalwani AK
Eur J Med Genet; 2009; 52(4):185-90. PubMed ID: 19285578
[TBL] [Abstract][Full Text] [Related]
51. 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. PubMed ID: 21542825
[TBL] [Abstract][Full Text] [Related]
52. A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts.
Hao J; Kunishima S; Guo X; Hu R; Gao W
Ann Hematol; 2012 Jul; 91(7):1147-8. PubMed ID: 22080149
[No Abstract] [Full Text] [Related]
53. COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.
Strasser K; Hoefele J; Bergmann C; Büscher AK; Büscher R; Hoyer PF; Weber S
Nephrol Dial Transplant; 2012 Nov; 27(11):4236-40. PubMed ID: 23144074
[TBL] [Abstract][Full Text] [Related]
54. MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation.
Toren A; Rozenfeld-Granot G; Heath KE; Amariglio N; Rocca B; Crosson J; Epstein CJ; Laghi F; Landolfi R; Carlsson LE; Argraves S; Bizzaro N; Moxey-Mims M; Brok-Simoni F; Martignetti JA; Greinacher A; Rechavi G
Am J Hematol; 2003 Dec; 74(4):254-62. PubMed ID: 14635206
[TBL] [Abstract][Full Text] [Related]
55. 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]
56. [Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].
Gao GY; Cao LJ; Yu ZQ; Jiang M; Han Y; Bai X; Su J; Ruan CG
Zhonghua Yi Xue Za Zhi; 2023 Oct; 103(37):2964-2970. PubMed ID: 37752057
[No Abstract] [Full Text] [Related]
57. A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.
Kodama R; Taketani T; Kunishima S; Mishima S; Yoshikawa Y; Kanai R; Suyama T; Yoshino I; Kunishi H; Shibata H; Nagai A; Yamaguchi S; Masuda J
Thromb Res; 2009 Sep; 124(4):508-11. PubMed ID: 19250658
[No Abstract] [Full Text] [Related]
58. MYH9 related platelet disorders - often unknown and misdiagnosed.
Althaus K; Najm J; Greinacher A
Klin Padiatr; 2011 May; 223(3):120-5. PubMed ID: 21567368
[TBL] [Abstract][Full Text] [Related]
59. The surgical management of a patient with chronic renal failure and macrothrombocytopenia related to the MYH9 gene mutation: A case report.
Costa RF; Bucharles SGE; Kagueiama DE; Kus CP; Andrade AA; Dirschnabel AJ; de Araujo MR; de Lima AAS
Spec Care Dentist; 2022 Nov; 42(6):651-656. PubMed ID: 35537118
[TBL] [Abstract][Full Text] [Related]
60. Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources.
Parker LL; Gao J; Zuo J
Brain Res; 2006 May; 1091(1):235-42. PubMed ID: 16630581
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]