BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 30720677)

  • 1. Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.
    Yang EJ; Park KM; Kim YM; Jung KS; Lim YT; Cheon CK
    J Pediatr Hematol Oncol; 2020 Apr; 42(3):e188-e192. PubMed ID: 30720677
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Avatrombopag improves thrombocytopenia in MYH9-related disorder following eltrombopag treatment failure.
    Arif AR; Zhao M; Chen W; Xue M; Luo S; Wang Y
    Platelets; 2022 Nov; 33(8):1307-1311. PubMed ID: 35791514
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Diagnosis and treatment of
    Rabbolini DJ; Chun Y; Latimer M; Kunishima S; Fixter K; Valecha B; Tan P; Chew LP; Kile BT; Burt R; Radhakrishnan K; Bird R; Ockelford P; Gabrielli S; Chen Q; Stevenson WS; Ward CM; Morel-Kopp MC
    Platelets; 2018 Dec; 29(8):793-800. PubMed ID: 29090586
    [No Abstract]   [Full Text] [Related]  

  • 7. [Molecular diagnosis of a family with May-Hegglin anomaly].
    Wu C; Mo W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jan; 37(1):60-63. PubMed ID: 31922599
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A family with an MYH9-related disorder with different phenotypes masquerading as immune thrombocytopaenia: an underreported disorder in Taiwan.
    Huang YC; Shih YH; Lin CY; Chiu PF; Kuo SF; Lin JS; Shen MC
    Int J Hematol; 2020 Dec; 112(6):878-882. PubMed ID: 32712863
    [TBL] [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. Preoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature.
    Eichel Y; Tormos LM; Squires JE
    Transfusion; 2016 Feb; 56(2):349-53. PubMed ID: 26446054
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Linking the Landscape of
    Asensio-Juárez G; Llorente-González C; Vicente-Manzanares M
    Cells; 2020 Jun; 9(6):. PubMed ID: 32545517
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 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. 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]  

  • 17. Congenital thrombocytopenia with nephritis - The first case of MYH9 related disorder in Serbia.
    Kuzmanović M; Kunishima S; Putnik J; Stajić N; Paripović A; Bogdanović R
    Vojnosanit Pregl; 2014 Apr; 71(4):395-8. PubMed ID: 24783421
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial macro thrombocytopenia: role of genetics where morphology fails.
    Chaudhary H; Jindal A; Guleria S; Sharma S; Sachdeva MUS; Ahluwalia J
    Blood Coagul Fibrinolysis; 2020 Jul; 31(5):333-334. PubMed ID: 32516168
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Hereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report.
    Ciftciler R; Balasar Ö; Keyik H; Ciftciler AE
    Transfus Apher Sci; 2023 Aug; 62(4):103710. PubMed ID: 37076359
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.