BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 35819869)

  • 1. Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes.
    Songdej D; Kadegasem P; Tangbubpha N; Sasanakul W; Deelertthaweesap B; Chuansumrit A; Sirachainan N
    Br J Haematol; 2022 Sep; 198(6):1051-1064. PubMed ID: 35819869
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.
    Isik E; Aydinok Y; Albayrak C; Durmus B; Karakas Z; Orhan MF; Sarper N; Aydın S; Unal S; Oymak Y; Karadas N; Turedi A; Albayrak D; Tayfun F; Tugcu D; Karaman S; Tobu M; Unal E; Ozcan A; Unal S; Aksu T; Unuvar A; Bilici M; Azik F; Ay Y; Gelen SA; Zengin E; Albudak E; Eker I; Karakaya T; Cogulu O; Ozkinay F; Atik T
    Eur J Haematol; 2024 Jul; 113(1):82-89. PubMed ID: 38556258
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
    Abdelrahman HA; Al-Shamsi A; John A; Hertecant J; Lootah A; Ali BR; Al-Gazali L
    Am J Med Genet A; 2018 Sep; 176(9):1996-2003. PubMed ID: 30055085
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.
    Wang D; Song L; Shen L; Zhang K; Lv Y; Gao M; Ma J; Wan Y; Gai Z; Liu Y
    Front Pharmacol; 2021; 12():644352. PubMed ID: 34335240
    [No Abstract]   [Full Text] [Related]  

  • 7. One-step amplification refractory mutation system-PCR/high-resolution melting curve assay for carrier detection of red blood cell membranopathy caused by common SPTB mutations.
    Khongphithakskul P; Tangbubpha N; Khlangtan T; Kadegasem P; Songdej D; Sirachainan N
    Int J Lab Hematol; 2024 Apr; 46(2):375-382. PubMed ID: 37904725
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Overhydrated stomatocytosis associated with a complex
    Jamwal M; Aggarwal A; Sachdeva MUS; Sharma P; Malhotra P; Maitra A; Das R
    J Clin Pathol; 2018 Jul; 71(7):648-652. PubMed ID: 29559519
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.
    Wang R; Yang S; Xu M; Huang J; Liu H; Gu W; Zhang X
    Sci China Life Sci; 2018 Aug; 61(8):947-953. PubMed ID: 29572776
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.
    Park J; Jang W; Han E; Chae H; Yoo J; Kim Y; Kim YJ; Kim M
    Pediatr Blood Cancer; 2018 Jul; 65(7):e27053. PubMed ID: 29603612
    [No Abstract]   [Full Text] [Related]  

  • 11. Clinical Exome Sequencing Reveals Novel Mutations in
    Chiguer A; Lyahyai J; El Kadiri Y; Cherkaoui Jaouad I; Doubaj Y; Sefiani A
    Hemoglobin; 2024 Jun; ():1-4. PubMed ID: 38831725
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.
    Lee HH; Mak AS; Kou KO; Poon CF; Wong WS; Chiu KH; Au PK; Chan KY; Kan AS; Tang MH; Leung KY
    Hemoglobin; 2016 Nov; 40(6):431-434. PubMed ID: 28361594
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.
    Tangsricharoen T; Natesirinilkul R; Phusua A; Fanhchaksai K; Ittiwut C; Chetruengchai W; Juntharaniyom M; Charoenkwan P; Viprakasit V; Phokaew C; Shotelersuk V
    Br J Haematol; 2021 Aug; 194(3):626-634. PubMed ID: 34227100
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.
    Maciak K; Adamowicz-Salach A; Siwicka A; Poznanski J; Urasinski T; Plochocka D; Gora M; Burzynska B
    Blood Cells Mol Dis; 2020 Feb; 80():102378. PubMed ID: 31670187
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.
    Singha K; Teawtrakul N; Fucharoen G; Fucharoen S
    J Clin Pathol; 2023 Jul; ():. PubMed ID: 37507221
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.
    Qin L; Nie Y; Zhang H; Chen L; Zhang D; Lin Y; Ru K
    J Hum Genet; 2020 Apr; 65(4):427-434. PubMed ID: 31980736
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.