150 related articles for article (PubMed ID: 37006978)
1. Genetic Spectrum in F13A1 Detected by Next-Generation Sequencing Among North Indian Patients with FXIII Deficiency.
Sharma R; Jamwal M; Singh N; Sharma P; Bansal D; Trehan A; Malhotra P; Jain A; Ahluwalia J; Das R; Kumar N
Indian J Hematol Blood Transfus; 2023 Apr; 39(2):276-283. PubMed ID: 37006978
[TBL] [Abstract][Full Text] [Related]
2. Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.
Yan L; Wang T; Qiu J; Zhang X; Peng J; Fang Y; Sheng Z
Int J Hematol; 2023 Jul; 118(1):26-35. PubMed ID: 37059930
[TBL] [Abstract][Full Text] [Related]
3. Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.
Moret A; Zúñiga Á; Ayala JM; Liquori A; Cid AR; Haya S; Ferrando F; Blanquer A; Cervera J; Bonanad S
J Thromb Thrombolysis; 2020 Oct; 50(3):686-688. PubMed ID: 32060721
[TBL] [Abstract][Full Text] [Related]
4. Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.
Ma S; Chen C; Liang Q; Wu X; Wang X; Wu W; Liu Y; Ding Q
Orphanet J Rare Dis; 2019 Jul; 14(1):182. PubMed ID: 31340840
[TBL] [Abstract][Full Text] [Related]
5. Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.
Borhany M; Handrkova H; Cairo A; Schroeder V; Fatima N; Naz A; Amanat S; Shamsi T; Peyvandi F; Kohler HP
Haemophilia; 2014 Jul; 20(4):568-74. PubMed ID: 24329762
[TBL] [Abstract][Full Text] [Related]
6. Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A
Ivaškevičius V; Biswas A; Garly ML; Oldenburg J
Haemophilia; 2017 May; 23(3):e194-e203. PubMed ID: 28520207
[TBL] [Abstract][Full Text] [Related]
7. A common F13A1 intron 1 variant IVS1+12(A) is associated with mild FXIII deficiency in Caucasian population.
Ivaskevicius V; Biswas A; Thomas A; Lyonga S; Rott H; Halimeh S; Kappert G; Klammroth R; Scholz U; Eberl W; Harbrecht U; Gnida C; Hertfelder HJ; Marquardt N; Oldenburg J
Ann Hematol; 2013 Jul; 92(7):975-9. PubMed ID: 23508224
[TBL] [Abstract][Full Text] [Related]
8. Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.
Deng J; Li D; Mei H; Tang L; Wang HF; Hu Y
BMC Med Genet; 2020 Jan; 21(1):9. PubMed ID: 31914974
[TBL] [Abstract][Full Text] [Related]
9. Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.
Jang MA; Park YS; Lee KO; Kim HJ
Blood Coagul Fibrinolysis; 2015 Jan; 26(1):46-9. PubMed ID: 25004025
[TBL] [Abstract][Full Text] [Related]
10. Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.
Sharma R; Jamwal M; Senee HK; Singh N; Kumar N; Hans C; Kler A; Bansal D; Trehan A; Malhotra P; Ahluwalia J; Das R
Haemophilia; 2023 Mar; 29(2):591-599. PubMed ID: 36571800
[TBL] [Abstract][Full Text] [Related]
11. [Identification of genetic defects in a Chinese pedigree with factor XIII deficiency: case report and literature review].
Xu G; Liang Q; Zhang L; Shen Y; Ding Q; Wang X; Wang H
Zhonghua Xue Ye Xue Za Zhi; 2015 Oct; 36(10):844-8. PubMed ID: 26477763
[TBL] [Abstract][Full Text] [Related]
12. Transient Platelet Dysfunction in Congenital Factor XIII Deficiency with Enhanced Thrombin Generation Potential.
Oh I; Gu J; Kim HK; Choi JY
Clin Lab; 2022 Aug; 68(8):. PubMed ID: 35975501
[TBL] [Abstract][Full Text] [Related]
13. Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency.
Ivaskevicius V; Biswas A; Loreth R; Schroeder V; Ohlenforst S; Rott H; Krause M; Kohler HP; Scharrer I; Oldenburg J
Haemophilia; 2010 Jul; 16(4):675-82. PubMed ID: 20331752
[TBL] [Abstract][Full Text] [Related]
14. Neoplasm-induced bleeding in inherited, heterozygous FXIII-A deficiency.
Ivaškevičius V; Goldmann G; Biswas A; Westhofen P; Thomas A; Marquardt N; Horneff S; Klein C; Rühl H; Pötzsch B; Oldenburg J
Hamostaseologie; 2015; 35 Suppl 1():S32-5. PubMed ID: 26540128
[TBL] [Abstract][Full Text] [Related]
15. Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.
Katona É; Muszbek L; Devreese K; Kovács KB; Bereczky Z; Jonkers M; Shemirani AH; Mondelaers V; Ermens AA
Haemophilia; 2014 Jan; 20(1):114-20. PubMed ID: 24118344
[TBL] [Abstract][Full Text] [Related]
16. A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report.
Cai R; Li Y; Wang W; Feng Q
BMC Med Genet; 2020 Sep; 21(1):175. PubMed ID: 32883222
[TBL] [Abstract][Full Text] [Related]
17. Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene.
Thomas A; Ivaškevičius V; Zawadzki C; Goudemand J; Biswas A; Oldenburg J
Hum Genome Var; 2016; 3():15059. PubMed ID: 27081562
[TBL] [Abstract][Full Text] [Related]
18. Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.
Shanbhag S; Ghosh K; Shetty S
Blood Cells Mol Dis; 2016 Mar; 57():81-4. PubMed ID: 26852661
[TBL] [Abstract][Full Text] [Related]
19. Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.
Thomas A; Biswas A; Dodt J; Philippou H; Hethershaw E; Ensikat HJ; Ivaskevicius V; Oldenburg J
Hum Mutat; 2016 Oct; 37(10):1030-41. PubMed ID: 27363989
[TBL] [Abstract][Full Text] [Related]
20. Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent.
Shen MC; Chen M; Chang SP; Lin PT; Hsieh HN; Lin KH
Pediatr Hematol Oncol; 2018; 35(7-8):442-446. PubMed ID: 30702381
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]