BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 29349879)

  • 1. A novel PKLR gene mutation identified using advanced molecular techniques.
    He Y; Luo J; Lei Y; Jia S; Liao N
    Pediatr Transplant; 2018 Mar; 22(2):. PubMed ID: 29349879
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.
    Montllor L; Mañú-Pereira MD; Llaudet-Planas E; Gómez Ramírez P; Sevilla Navarro J; Vives-Corrons JL
    Med Clin (Barc); 2017 Jan; 148(1):23-27. PubMed ID: 27871768
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.
    Yaish HM; Nussenzveig RH; Agarwal AM; Siddiqui AH; Christensen RD
    Neonatology; 2014; 106(2):140-2. PubMed ID: 24969675
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
    Li D; Zhang J; Jiao B; Liu Y; Wang Y; Wang Z; Li W; Hou L; Sun Y; Guo H; Guo X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):53-6. PubMed ID: 26829734
    [TBL] [Abstract][Full Text] [Related]  

  • 5. First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.
    Kedar PS; Nampoothiri S; Sreedhar S; Ghosh K; Shimizu K; Kanno H; Colah RB
    Genet Mol Res; 2007 Jun; 6(2):470-5. PubMed ID: 17952871
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation].
    Qu Y; He H; Du J; Hou J; Fu W
    Zhonghua Xue Ye Xue Za Zhi; 2014 Jul; 35(7):601-4. PubMed ID: 25052601
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.
    Li H; Gu P; Yao RE; Wang J; Fu Q; Wang J
    Fetal Pediatr Pathol; 2014 Jun; 33(3):182-90. PubMed ID: 24601847
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing].
    Li DL; Zhang J; Liu YL; Jiao BQ; Wang ZW; Wang YJ; Li WJ; Hou LF; Guo HM; Sun Y; Guo X
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2015 Oct; 23(5):1464-8. PubMed ID: 26524058
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.
    Yozgat AK; Erdem AY; Kaçar D; Özbek NY; Yaralı N
    Turk J Pediatr; 2022; 64(5):951-955. PubMed ID: 36305449
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.
    Lesmana H; Dyer L; Li X; Denton J; Griffiths J; Chonat S; Seu KG; Heeney MM; Zhang K; Hopkin RJ; Kalfa TA
    Hum Mutat; 2018 Mar; 39(3):389-393. PubMed ID: 29288557
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
    Milanesio B; Pepe C; Defelipe LA; Eandi Eberle S; Avalos Gomez V; Chaves A; Albero A; Aguirre F; Fernandez D; Aizpurua L; Paula Dieuzeide M; Turjanski A; Bianchi P; Fermo E; Feliu-Torres A
    Clin Biochem; 2021 May; 91():26-30. PubMed ID: 33631127
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hemolytic anemia associated with a novel heterozygote mutation 1183A in the PK-LR gene (PK- Jordan).
    Karadsheh NS; Gelbart T; Naffa RG
    Int J Lab Hematol; 2014 Aug; 36(4):e66-8. PubMed ID: 24330591
    [No Abstract]   [Full Text] [Related]  

  • 13. A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.
    Rehman AU; Rashid A; Hussain Z; Shah K
    J Med Case Rep; 2022 Feb; 16(1):66. PubMed ID: 35168679
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
    Jaouani M; Manco L; Kalai M; Chaouch L; Douzi K; Silva A; Macedo S; Darragi I; Boudriga I; Chaouachi D; Fitouri Z; Van Wijk R; Ribeiro ML; Abbes S
    Int J Lab Hematol; 2017 Apr; 39(2):223-231. PubMed ID: 28133914
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.
    Canu G; De Paolis E; Righino B; Mazzuccato G; De Paolis G; Capoluongo E; De Rosa MC; Urbani A; Gunes AM; Minucci A
    Mol Biol Rep; 2020 Oct; 47(10):8311-8315. PubMed ID: 32974842
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
    Warang P; Kedar P; Ghosh K; Colah R
    Blood Cells Mol Dis; 2013 Oct; 51(3):133-7. PubMed ID: 23770304
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Anemia in the Neonate: The Differential Diagnosis and Treatment.
    Nassin ML; Lapping-Carr G; de Jong JL
    Pediatr Ann; 2015 Jul; 44(7):e159-63. PubMed ID: 26171704
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency.
    Chueh HW; Kim N
    Pediatr Hematol Oncol; 2022 Mar; 39(2):166-173. PubMed ID: 34281465
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.
    Aydin Köker S; Oymak Y; Bianchi P; Gözmen S; Karapinar TH; Fermo E; Vergin RC
    J Pediatr Hematol Oncol; 2019 Jan; 41(1):e1-e2. PubMed ID: 30028822
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney.
    Haija MA; Qian YW; Muthukumar A
    Pediatr Blood Cancer; 2014 Aug; 61(8):1463-5. PubMed ID: 24481986
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.