BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

284 related articles for article (PubMed ID: 31401766)

  • 1. Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
    Kedar PS; Harigae H; Ito E; Muramatsu H; Kojima S; Okuno Y; Fujiwara T; Dongerdiye R; Warang PP; Madkaikar MR
    Int J Hematol; 2019 Nov; 110(5):618-626. PubMed ID: 31401766
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
    Shefer Averbuch N; Steinberg-Shemer O; Dgany O; Krasnov T; Noy-Lotan S; Yacobovich J; Kuperman AA; Kattamis A; Ben Barak A; Roth-Jelinek B; Chubar E; Shabad E; Dufort G; Ellis M; Wolach O; Pazgal I; Abu Quider A; Miskin H; Tamary H
    Eur J Haematol; 2018 Sep; 101(3):297-304. PubMed ID: 29786897
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
    More TA; Dongerdiye R; Devendra R; Warang PP; Kedar PS
    Ann Hematol; 2020 Apr; 99(4):715-727. PubMed ID: 32112123
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center.
    Nieto JM; Rochas-López S; González-Fernández FA; Villegas-Martínez A; Bolaños-Calderón E; Salido-Fiérrez E; Cela E; Huerta-Aragoneses J; Ordoñez-García M; Muruzábal-Sitges MJ; Abio-Calvete M; Sevilla Navarro J; de la Iglesia S; Morado M; San Román-Pacheco S; Martín-Mateos ML; Recasens-Flores MV; Benavente-Cuesta C; Ropero-Gradilla P; Members Of The Erithropatology Working Group
    Clin Chim Acta; 2022 Jun; 531():112-119. PubMed ID: 35351432
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
    Mañú-Pereira Mdel M; Gonzalez-Roca E; van Solinge WW; Llaudet-Planas E; Sevilla J; Montllor L; Mensa-Vilaro A; Ploos van Amstel HK; van Wijk R; Vives-Corrons J
    Am J Hematol; 2015 Dec; 90(12):E217-9. PubMed ID: 26315463
    [No Abstract]   [Full Text] [Related]  

  • 6. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
    Dongerdiye R; Bokde M; More TA; Saptarshi A; Devendra R; Chiddarwar A; Warang P; Kedar P
    Ann Hematol; 2023 May; 102(5):1029-1036. PubMed ID: 36892591
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular heterogeneity of pyruvate kinase deficiency.
    Bianchi P; Fermo E
    Haematologica; 2020 Sep; 105(9):2218-2228. PubMed ID: 33054047
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.
    Jamwal M; Aggarwal A; Das A; Maitra A; Sharma P; Krishnan S; Arora N; Bansal D; Das R
    Clin Chim Acta; 2017 May; 468():81-84. PubMed ID: 28223188
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
    Dongerdiye R; Kamat P; Jain P; Warang P; Devendra R; Wasekar N; Sharma R; Mhaskar K; Madkaikar MR; Manglani MV; Kedar PS
    J Clin Pathol; 2019 Jun; 72(6):393-398. PubMed ID: 30918013
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
    Russo R; Andolfo I; Manna F; Gambale A; Marra R; Rosato BE; Caforio P; Pinto V; Pignataro P; Radhakrishnan K; Unal S; Tomaiuolo G; Forni GL; Iolascon A
    Am J Hematol; 2018 May; 93(5):672-682. PubMed ID: 29396846
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Laboratory Approach to Hemolytic Anemia.
    Jamwal M; Sharma P; Das R
    Indian J Pediatr; 2020 Jan; 87(1):66-74. PubMed ID: 31823208
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency.
    Ferreira P; Morais L; Costa R; Resende C; Dias CP; Araújo F; Costa E; Barbot J; Vilarinho A
    Eur J Pediatr; 2000 Jul; 159(7):481-2. PubMed ID: 10923218
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Chronic non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency in a Costa Rican family carrying hemoglobin C disease].
    Chaves M; Vives-Corrons JL; Sáenz GF; Pujades MA; Briceño J; Colomer D
    Sangre (Barc); 1990 Apr; 35(2):128-33. PubMed ID: 2363093
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.