198 related articles for article (PubMed ID: 36892591)
1. 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]
2. 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]
3. 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]
4. [From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].
de Vooght KM; van Wijk R; Nieuwenhuis HK; Ploos van Amstel JK; Rijksen G; van Solinge WW
Ned Tijdschr Geneeskd; 2002 Sep; 146(39):1828-31. PubMed ID: 12382367
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.
Mehrabi Sisakht J; Mehri M; Najmabadi H; Azarkeivan A; Neishabury M
Arch Iran Med; 2022 Oct; 25(10):691-697. PubMed ID: 37542401
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.
Kedar P; Hamada T; Warang P; Nadkarni A; Shimizu K; Fujji H; Ghosh K; Kanno H; Colah R
Clin Genet; 2009 Feb; 75(2):157-62. PubMed ID: 18759866
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. 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]
13. Novel
Fawaz N; Beshlawi I; Alqasim A; Zachariah M; Russo R; Andolfo I; Gambale A; Pathare A; Iolascon A
Clin Case Rep; 2022 Feb; 10(2):e05315. PubMed ID: 35154711
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression.
Diez A; Gilsanz F; Martinez J; Pérez-Benavente S; Meza NW; Bautista JM
Blood; 2005 Sep; 106(5):1851-6. PubMed ID: 15870173
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency.
Xie F; Gan L; Lei L; Cai T; Gao Y; Liu X; Cai B; Zhou L
Mol Genet Genomic Med; 2023 Nov; 11(11):e2239. PubMed ID: 37466302
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]