BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 34349782)

  • 1. Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.
    Kristan A; Pajič T; Maver A; Režen T; Kunej T; Količ R; Vuga A; Fink M; Žula Š; Podgornik H; Anžej Doma S; Preložnik Zupan I; Rozman D; Debeljak N
    Front Genet; 2021; 12():689868. PubMed ID: 34349782
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Erythrocytosis: genes and pathways involved in disease development.
    Gašperšič J; Kristan A; Kunej T; Zupan IP; Debeljak N
    Blood Transfus; 2021 Nov; 19(6):518-532. PubMed ID: 33370224
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
    Benetti A; Bertozzi I; Ceolotto G; Cortella I; Regazzo D; Biagetti G; Cosi E; Randi ML
    Mediterr J Hematol Infect Dis; 2024; 16(1):e2024021. PubMed ID: 38468832
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
    Camps C; Petousi N; Bento C; Cario H; Copley RR; McMullin MF; van Wijk R; Ratcliffe PJ; Robbins PA; Taylor JC;
    Haematologica; 2016 Nov; 101(11):1306-1318. PubMed ID: 27651169
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience.
    Lee Y; Seo SH; Kim J; Kim SA; Lee JY; Lee JO; Bang SM; Park KU; Hwang SM
    Mol Diagn Ther; 2024 May; 28(3):311-318. PubMed ID: 38568469
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis.
    Kristan A; Gašperšič J; Režen T; Kunej T; Količ R; Vuga A; Fink M; Žula Š; Anžej Doma S; Preložnik Zupan I; Pajič T; Podgornik H; Debeljak N
    J Clin Lab Anal; 2021 Apr; 35(4):e23715. PubMed ID: 33534944
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic basis of unexplained erythrocytosis in Indian patients.
    Mallik N; Sharma P; Kaur Hira J; Chhabra S; Sreedharanunni S; Kumar N; Naseem S; Sachdeva MUS; Ahluwalia J; Malhotra P; Varma N; Varma S; Das R
    Eur J Haematol; 2019 Aug; 103(2):124-130. PubMed ID: 31132167
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis.
    Khurana H; Muthusamy B; Yanamandra U; Garapati K; Premdeep H; Subramanian S; Pandey A
    OMICS; 2023 Jul; 27(7):299-304. PubMed ID: 37428608
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic basis of congenital erythrocytosis.
    Bento C
    Int J Lab Hematol; 2018 May; 40 Suppl 1():62-67. PubMed ID: 29741264
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two Novel Genetic Variants Involved in the Oxygen Sensing Pathway in JAK2-unmutated Erythrocytosis.
    Ma Q; Hu R; Hui W; Zhao H; Zou D; Liu Y; Sun W
    Biochem Genet; 2024 Apr; ():. PubMed ID: 38568374
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
    Bento C; Almeida H; Maia TM; Relvas L; Oliveira AC; Rossi C; Girodon F; Fernandez-Lago C; Aguado-Diaz A; Fraga C; Costa RM; Araújo AL; Silva J; Vitória H; Miguel N; Silveira MP; Martin-Nuñez G; Ribeiro ML
    Eur J Haematol; 2013 Oct; 91(4):361-8. PubMed ID: 23859443
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic basis of congenital erythrocytosis: mutation update and online databases.
    Bento C; Percy MJ; Gardie B; Maia TM; van Wijk R; Perrotta S; Della Ragione F; Almeida H; Rossi C; Girodon F; Aström M; Neumann D; Schnittger S; Landin B; Minkov M; Randi ML; Richard S; Casadevall N; Vainchenker W; Rives S; Hermouet S; Ribeiro ML; McMullin MF; Cario H; ; Chauveau A; Gimenez-Roqueplo AP; Bressac-de-Paillerets B; Altindirek D; Lorenzo F; Lambert F; Dan H; Gad-Lapiteau S; Catarina Oliveira A; Rossi C; Fraga C; Taradin G; Martin-Nuñez G; Vitória H; Diaz Aguado H; Palmblad J; Vidán J; Relvas L; Ribeiro ML; Luigi Larocca M; Luigia Randi M; Pedro Silveira M; Percy M; Gross M; Marques da Costa R; Beshara S; Ben-Ami T; Ugo V;
    Hum Mutat; 2014 Jan; 35(1):15-26. PubMed ID: 24115288
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Novel Hemoglobin Variant Associated with Congenital Erythrocytosis: Hb Seoul [β86(F2)Ala→Thr] (HBB:c.259G>A).
    Shin SY; Bang SM; Kim HJ
    Ann Clin Lab Sci; 2016 May; 46(3):312-4. PubMed ID: 27312559
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
    Oliveira JL; Coon LM; Frederick LA; Hein M; Swanson KC; Savedra ME; Porter TR; Patnaik MM; Tefferi A; Pardanani A; Grebe SK; Viswanatha DS; Hoyer JD
    Am J Hematol; 2018 May; ():. PubMed ID: 29790589
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.
    Echambadi Loganathan S; Kattaru S; Chandrasekhar C; Vengamma B; Sarma PVGK
    Eur J Med Genet; 2022 Jun; 65(6):104493. PubMed ID: 35395428
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
    Sochorcova L; Hlusickova Kapralova K; Fialova Kucerova J; Pospisilova D; Prochazkova D; Jahoda O; Kurekova S; Kralova B; Divoka M; Navratilova J; Manakova J; Kriegova E; Indrak K; Faber E; Divoky V; Horvathova M
    Br J Haematol; 2023 Aug; 202(3):674-685. PubMed ID: 37246471
    [TBL] [Abstract][Full Text] [Related]  

  • 17. NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.
    Jalowiec KA; Vrotniakaite-Bajerciene K; Capraru A; Wojtovicova T; Joncourt R; Rovó A; Porret NA
    Genes (Basel); 2021 Dec; 12(12):. PubMed ID: 34946900
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.
    Vočanec D; Prijatelj T; Debeljak N; Kunej T
    Int J Lab Hematol; 2019 Apr; 41(2):162-167. PubMed ID: 30507031
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.
    Kristan A; Debeljak N; Kunej T
    Eur J Haematol; 2019 Oct; 103(4):287-299. PubMed ID: 31376207
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic Background of Congenital Erythrocytosis.
    McMullin MF
    Genes (Basel); 2021 Jul; 12(8):. PubMed ID: 34440325
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.