BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 30337328)

  • 1. Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.
    Kedar PS; Gupta V; Dongerdiye R; Chiddarwar A; Warang P; Madkaikar MR
    J Clin Pathol; 2019 Jan; 72(1):81-85. PubMed ID: 30337328
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the
    Dongerdiye R; Jagadeesh S; Suresh B; Rajendran A; Devendra R; Warang P; Kedar PS
    J Clin Pathol; 2021 Oct; 74(10):620-624. PubMed ID: 33361148
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
    Kedar PS; Dongerdiye R; Chilwirwar P; Gupta V; Chiddarwar A; Devendra R; Warang P; Prasada H; Sampagar A; Bhat S; Chandrakala S; Madkaikar M
    Indian J Pediatr; 2019 Aug; 86(8):692-699. PubMed ID: 31030358
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia.
    Huppke P; Wünsch D; Pekrun A; Kind R; Winkler H; Schröter W; Lakomek M
    Eur J Pediatr; 1997 Aug; 156(8):605-9. PubMed ID: 9266190
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.
    Manco L; Bento C; Victor BL; Pereira J; Relvas L; Brito RM; Seabra C; Maia TM; Ribeiro ML
    Blood Cells Mol Dis; 2016 Sep; 60():18-23. PubMed ID: 27519939
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene.
    Warang P; Kedar P; Ghosh K; Colah RB
    Int J Hematol; 2012 Aug; 96(2):263-7. PubMed ID: 22782259
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report.
    Zu Y; Wang H; Lin W; Zou C
    BMC Pediatr; 2022 Aug; 22(1):461. PubMed ID: 35915427
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.
    Del Orbe Barreto R; Arrizabalaga B; De la Hoz AB; García-Orad Á; Tejada MI; Garcia-Ruiz JC; Fidalgo T; Bento C; Manco L; Ribeiro ML
    Int J Lab Hematol; 2016 Dec; 38(6):629-638. PubMed ID: 27427187
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
    Agarwal AM; Nussenzveig RH; Reading NS; Patel JL; Sangle N; Salama ME; Prchal JT; Perkins SL; Yaish HM; Christensen RD
    Br J Haematol; 2016 Sep; 174(5):806-14. PubMed ID: 27292444
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Glucose-6-phosphate isomerase deficiency.
    Kugler W; Lakomek M
    Baillieres Best Pract Res Clin Haematol; 2000 Mar; 13(1):89-101. PubMed ID: 10916680
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Haemolytic anaemia associated with glucosephosphate isomerase (GPI) deficiency in a Black South African child.
    Cayanis E; Penfold GK; Freiman I; MacDougall LG
    Br J Haematol; 1977 Nov; 37(3):363-71. PubMed ID: 603768
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.
    Kugler W; Breme K; Laspe P; Muirhead H; Davies C; Winkler H; Schröter W; Lakomek M
    Hum Genet; 1998 Oct; 103(4):450-4. PubMed ID: 9856489
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Targeted next-generation sequencing revealed a novel homozygous mutation in the
    Kedar P; Dongerdiye R; Chandrakala S; Bargir UA; Madkaikar M
    Hematology; 2022 Dec; 27(1):441-448. PubMed ID: 35413226
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).
    He S; Chen H; Guo X; Gao J
    BMC Med Genomics; 2022 May; 15(1):102. PubMed ID: 35509045
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome.
    Clarke JL; Vulliamy TJ; Roper D; Mesbah-Namin SA; Wild BJ; Walker JI; Will AM; Bolton-Maggs PH; Mason PJ; Layton DM
    Blood Cells Mol Dis; 2003; 30(3):258-63. PubMed ID: 12737943
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.
    Xi BX; Liu SY; Xu YT; Zhang DD; Hu Q; Liu AG
    Curr Med Sci; 2024 Apr; 44(2):426-434. PubMed ID: 38561594
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.