BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 37746810)

  • 1. A familial deletion of 10p12.1 associated with thrombocytopenia.
    Manohar S; Gofin Y; Streff H; Vossaert L; Camacho P; Murali CN
    Am J Med Genet A; 2024 Jan; 194(1):77-81. PubMed ID: 37746810
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
    Pippucci T; Savoia A; Perrotta S; Pujol-Moix N; Noris P; Castegnaro G; Pecci A; Gnan C; Punzo F; Marconi C; Gherardi S; Loffredo G; De Rocco D; Scianguetta S; Barozzi S; Magini P; Bozzi V; Dezzani L; Di Stazio M; Ferraro M; Perini G; Seri M; Balduini CL
    Am J Hum Genet; 2011 Jan; 88(1):115-20. PubMed ID: 21211618
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Thrombocytopenias due to gray platelet syndrome or THC2 mutations.
    Di Paola J; Johnson J
    Semin Thromb Hemost; 2011 Sep; 37(6):690-7. PubMed ID: 22102272
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia].
    Ventz R; Hundemer M; Witzens-Harig M; Lehmann B; Felbor U; Najm J
    Internist (Berl); 2013 Jun; 54(6):765-8. PubMed ID: 23677566
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.
    Zaninetti C; Santini V; Tiniakou M; Barozzi S; Savoia A; Pecci A
    J Thromb Haemost; 2017 Dec; 15(12):2388-2392. PubMed ID: 28976612
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Inherited Thrombocytopenia Caused by Germline
    Kewan T; Noss R; Godley LA; Rogers HJ; Carraway HE
    J Investig Med High Impact Case Rep; 2020; 8():2324709620938941. PubMed ID: 32618208
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
    Bluteau D; Balduini A; Balayn N; Currao M; Nurden P; Deswarte C; Leverger G; Noris P; Perrotta S; Solary E; Vainchenker W; Debili N; Favier R; Raslova H
    J Clin Invest; 2014 Feb; 124(2):580-91. PubMed ID: 24430186
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
    Wahlster L; Verboon JM; Ludwig LS; Black SC; Luo W; Garg K; Voit RA; Collins RL; Garimella K; Costello M; Chao KR; Goodrich JK; DiTroia SP; O'Donnell-Luria A; Talkowski ME; Michelson AD; Cantor AB; Sankaran VG
    J Exp Med; 2021 Jun; 218(6):. PubMed ID: 33857290
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Thrombocytopenia-associated mutations in Ser/Thr kinase MASTL deregulate actin cytoskeletal dynamics in platelets.
    Hurtado B; Trakala M; Ximénez-Embún P; El Bakkali A; Partida D; Sanz-Castillo B; Álvarez-Fernández M; Maroto M; Sánchez-Martínez R; Martínez L; Muñoz J; García de Frutos P; Malumbres M
    J Clin Invest; 2018 Dec; 128(12):5351-5367. PubMed ID: 30252678
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.
    Marconi C; Canobbio I; Bozzi V; Pippucci T; Simonetti G; Melazzini F; Angori S; Martinelli G; Saglio G; Torti M; Pastan I; Seri M; Pecci A
    J Hematol Oncol; 2017 Jan; 10(1):18. PubMed ID: 28100250
    [TBL] [Abstract][Full Text] [Related]  

  • 11. FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.
    Gandhi MJ; Cummings CL; Drachman JG
    Hum Hered; 2003; 55(1):66-70. PubMed ID: 12890928
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26.
    Perez Botero J; Oliveira JL; Chen D; Reichard KK; Viswanatha DS; Nguyen PL; Pruthi RK; Majerus J; Gada P; Gangat N; Tefferi A; Patnaik MM
    Blood Cancer J; 2015 May; 5(5):e315. PubMed ID: 26001113
    [No Abstract]   [Full Text] [Related]  

  • 13. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
    Noris P; Perrotta S; Seri M; Pecci A; Gnan C; Loffredo G; Pujol-Moix N; Zecca M; Scognamiglio F; De Rocco D; Punzo F; Melazzini F; Scianguetta S; Casale M; Marconi C; Pippucci T; Amendola G; Notarangelo LD; Klersy C; Civaschi E; Balduini CL; Savoia A
    Blood; 2011 Jun; 117(24):6673-80. PubMed ID: 21467542
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prevalence and natural history of variants in the
    Vyas H; Alcheikh A; Lowe G; Stevenson WS; Morgan NV; Rabbolini DJ
    Platelets; 2022 Nov; 33(8):1107-1112. PubMed ID: 35587581
    [No Abstract]   [Full Text] [Related]  

  • 15. Analysis of clinical characteristics and treatment efficacy in two pediatric cases of
    Pang C; Wu X; Nikuze L; Wei H
    Platelets; 2023 Dec; 34(1):2262607. PubMed ID: 37852929
    [No Abstract]   [Full Text] [Related]  

  • 16. In vivo inactivation of MASTL kinase results in thrombocytopenia.
    Johnson HJ; Gandhi MJ; Shafizadeh E; Langer NB; Pierce EL; Paw BH; Gilligan DM; Drachman JG
    Exp Hematol; 2009 Aug; 37(8):901-8. PubMed ID: 19460416
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.
    Tan C; Dai L; Chen Z; Yang W; Wang Y; Zeng C; Xiang Z; Wang X; Zhang X; Ran Q; Guo H; Li Z; Chen L
    Front Genet; 2020; 11():340. PubMed ID: 32351539
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.
    Ouchi-Uchiyama M; Sasahara Y; Kikuchi A; Goi K; Nakane T; Ikeno M; Noguchi Y; Uike N; Miyajima Y; Matsubara K; Koh K; Sugita K; Imaizumi M; Kure S
    Pediatr Blood Cancer; 2015 Dec; 62(12):2082-8. PubMed ID: 26175287
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.
    Bouman A; Knegt L; Gröschel S; Erpelinck C; Sanders M; Delwel R; Kuijpers T; Cobben JM
    Am J Med Genet A; 2016 Feb; 170A(2):504-509. PubMed ID: 26554871
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.