224 related articles for article (PubMed ID: 12621333)
1. 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. PubMed ID: 12621333
[TBL] [Abstract][Full Text] [Related]
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; 37(1):112-20. PubMed ID: 26226608
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. Genotype-phenotype correlation in MYH9-related thrombocytopenia.
Dong F; Li S; Pujol-Moix N; Luban NL; Shin SW; Seo JH; Ruiz-Saez A; Demeter J; Langdon S; Kelley MJ
Br J Haematol; 2005 Aug; 130(4):620-7. PubMed ID: 16098078
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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. PubMed ID: 22541678
[TBL] [Abstract][Full Text] [Related]
12. [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. PubMed ID: 23223919
[TBL] [Abstract][Full Text] [Related]
13. Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.
Kunishima S; Kitamura K; Matsumoto T; Sekine T; Saito H
Br J Haematol; 2014 Jun; 165(6):885-7. PubMed ID: 24611568
[No Abstract] [Full Text] [Related]
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. PubMed ID: 18059020
[TBL] [Abstract][Full Text] [Related]
15. Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure.
Makino S; Kunishima S; Ikumi A; Awaguni H; Shinozuka J; Tanaka S; Maruyama R; Imashuku S
Pediatr Int; 2015 Oct; 57(5):977-81. PubMed ID: 26387855
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.
Yokoi S; Kunishima S; Takahashi Y; Morishita M; Kojima S
Ann Hematol; 2016 Apr; 95(5):831-3. PubMed ID: 26861218
[No Abstract] [Full Text] [Related]
18. 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]
19. 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]
20. 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. PubMed ID: 23409987
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
