133 related articles for article (PubMed ID: 37752057)
1. [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]
2. [Clinical and genetic features of seven children with MYH9-related disease].
Hu Y; Ma JY; Liu HQ; Yang BX; Zhao SS; Zhang JL; Wu RH
Zhonghua Er Ke Za Zhi; 2021 Nov; 59(11):968-972. PubMed ID: 34711033
[No Abstract] [Full Text] [Related]
3. 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]
4. 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. PubMed ID: 18059020
[TBL] [Abstract][Full Text] [Related]
5. [Non-muscle myosin heavy chain 9 gene-related disorders with thrombocytopenia: report of two pedigrees and literature review].
Mao ST; Li B; Wang D; Liu SS; Su SF; Wei LL; Chai FY; Liu Y; Liu YF
Zhonghua Er Ke Za Zhi; 2023 Sep; 61(9):833-838. PubMed ID: 37650166
[No Abstract] [Full Text] [Related]
6. [Gene analysis and clinical features of MYH9-related disease].
Luo XJ; Cao K; Liu J; Duan QY; Chen SY; Zhang Y; Huang T; Mao XN; Li CG; Chen YS
Zhonghua Er Ke Za Zhi; 2021 Nov; 59(11):957-962. PubMed ID: 34711031
[No Abstract] [Full Text] [Related]
7. Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L; Megy K; Stephens JC; Grassi L; Greene D; Gleadall N; Althaus K; Allsup D; Bariana TK; Bonduel M; Butta NV; Collins P; Curry N; Deevi SVV; Downes K; Duarte D; Elliott K; Falcinelli E; Furie B; Keeling D; Lambert MP; Linger R; Mangles S; Mapeta R; Millar CM; Penkett C; Perry DJ; Stirrups KE; Turro E; Westbury SK; Wu J; BioResource N; Gomez K; Freson K; Ouwehand WH; Gresele P; Simeoni I
Hum Mutat; 2020 Jan; 41(1):277-290. PubMed ID: 31562665
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 20002731
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 20174760
[TBL] [Abstract][Full Text] [Related]
10. A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia.
Li K; Jin R; Xu W; Shen Y; Lu K; Wu X
J Pediatr Hematol Oncol; 2021 Jan; 43(1):e7-e10. PubMed ID: 32520844
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 23123319
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.
Wasano K; Matsunaga T; Ogawa K; Kunishima S
Eur Arch Otorhinolaryngol; 2016 Nov; 273(11):3547-3552. PubMed ID: 26942920
[TBL] [Abstract][Full Text] [Related]
14. MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Natesirinilkul R; Sosothikul D; Komwilaisak P; Pongtanakul B; Narkbunnum N; Yudhasompop N; Mekjarusgool P; Niparuck P; Boonyawat K; Kunishima S; Sirachainan N;
Pediatr Blood Cancer; 2021 Jul; 68(7):e29055. PubMed ID: 33855781
[TBL] [Abstract][Full Text] [Related]
15. MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.
Zaninetti C; De Rocco D; Giangregorio T; Bozzi V; Demeter J; Leoni P; Noris P; Ryhänen S; Barozzi S; Pecci A; Savoia A
Hamostaseologie; 2019 Feb; 39(1):87-94. PubMed ID: 29996171
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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. PubMed ID: 24186861
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 19860543
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 24890873
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
