350 related articles for article (PubMed ID: 22305531)
1. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.
Johnston JJ; Gropman AL; Sapp JC; Teer JK; Martin JM; Liu CF; Yuan X; Ye Z; Cheng L; Brodsky RA; Biesecker LG
Am J Hum Genet; 2012 Feb; 90(2):295-300. PubMed ID: 22305531
[TBL] [Abstract][Full Text] [Related]
2. Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria.
Li J; Lin Y; Chen L; Qin L; Tan H; Zou J; Zhang D; Nie Y; Wang G; Zhang H; Liu E; Chen X; Ru K
Int J Lab Hematol; 2020 Aug; 42(4):473-481. PubMed ID: 32359022
[TBL] [Abstract][Full Text] [Related]
3. Paroxysmal nocturnal hemoglobinuria.
Brodsky RA
Blood; 2014 Oct; 124(18):2804-11. PubMed ID: 25237200
[TBL] [Abstract][Full Text] [Related]
4. Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: Evaluation of
Park J; Kim M; Kim Y; Han K; Chung NG; Cho B; Lee SE; Lee JW
Ann Lab Med; 2019 Sep; 39(5):438-446. PubMed ID: 31037862
[TBL] [Abstract][Full Text] [Related]
5. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J; Wang Q; Zhuo Q; Tian H; Li W; Luo F; Zhang J; Bi D; Peng J; Zhou D; Xin H
Mol Genet Genomic Med; 2018 Sep; 6(5):739-748. PubMed ID: 29974678
[TBL] [Abstract][Full Text] [Related]
6. Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria.
Shen W; Clemente MJ; Hosono N; Yoshida K; Przychodzen B; Yoshizato T; Shiraishi Y; Miyano S; Ogawa S; Maciejewski JP; Makishima H
J Clin Invest; 2014 Oct; 124(10):4529-38. PubMed ID: 25244093
[TBL] [Abstract][Full Text] [Related]
7. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
Belet S; Fieremans N; Yuan X; Van Esch H; Verbeeck J; Ye Z; Cheng L; Brodsky BR; Hu H; Kalscheuer VM; Brodsky RA; Froyen G
Hum Mutat; 2014 Mar; 35(3):350-5. PubMed ID: 24357517
[TBL] [Abstract][Full Text] [Related]
8. The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M; Sinclair G; Stockler-Ipsiroglu S; Van Allen M; Rozmus J; Shyr C; Biancheri R; Oh T; Sayson B; Lafek M; Ross CJ; Robinson WP; Wasserman WW; Rossi A; van Karnebeek CD
Orphanet J Rare Dis; 2015 Feb; 10():23. PubMed ID: 25885527
[TBL] [Abstract][Full Text] [Related]
9. Increased sensitivity to complement and a decreased red blood cell life span in mice mosaic for a nonfunctional Piga gene.
Tremml G; Dominguez C; Rosti V; Zhang Z; Pandolfi PP; Keller P; Bessler M
Blood; 1999 Nov; 94(9):2945-54. PubMed ID: 10556176
[TBL] [Abstract][Full Text] [Related]
10. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Fauth C; Steindl K; Toutain A; Farrell S; Witsch-Baumgartner M; Karall D; Joset P; Böhm S; Baumer A; Maier O; Zschocke J; Weksberg R; Marshall CR; Rauch A
Am J Med Genet A; 2016 Feb; 170A(2):392-402. PubMed ID: 26545172
[TBL] [Abstract][Full Text] [Related]
11. Paroxysmal nocturnal haemoglobinuria.
Hill A; DeZern AE; Kinoshita T; Brodsky RA
Nat Rev Dis Primers; 2017 May; 3():17028. PubMed ID: 28516949
[TBL] [Abstract][Full Text] [Related]
12. Paroxysmal nocturnal hemoglobinuria: insights from recent advances in molecular biology.
Bessler M; Schaefer A; Keller P
Transfus Med Rev; 2001 Oct; 15(4):255-67. PubMed ID: 11668433
[TBL] [Abstract][Full Text] [Related]
13. Insights Into the Emergence of Paroxysmal Nocturnal Hemoglobinuria.
Colden MA; Kumar S; Munkhbileg B; Babushok DV
Front Immunol; 2021; 12():830172. PubMed ID: 35154088
[TBL] [Abstract][Full Text] [Related]
14. Paroxysmal nocturnal hemoglobinuria (PNH) and primary p.Cys89Tyr mutation in CD59: Differences and similarities.
Mevorach D
Mol Immunol; 2015 Sep; 67(1):51-5. PubMed ID: 25818314
[TBL] [Abstract][Full Text] [Related]
15. [Pathogenesis of paroxysmal nocturnal hemoglobinuria].
Murakami Y
Rinsho Ketsueki; 2016; 57(10):1900-1907. PubMed ID: 27725586
[TBL] [Abstract][Full Text] [Related]
16. A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
Krawitz PM; Höchsmann B; Murakami Y; Teubner B; Krüger U; Klopocki E; Neitzel H; Hoellein A; Schneider C; Parkhomchuk D; Hecht J; Robinson PN; Mundlos S; Kinoshita T; Schrezenmeier H
Blood; 2013 Aug; 122(7):1312-5. PubMed ID: 23733340
[TBL] [Abstract][Full Text] [Related]
17. Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kbp microdeletion on 15q.
Langemeijer S; Schaap C; Preijers F; Jansen JH; Blijlevens N; Inoue N; Muus P; Kinoshita T; Murakami Y
Blood Adv; 2020 Nov; 4(22):5755-5761. PubMed ID: 33216889
[TBL] [Abstract][Full Text] [Related]
18. [Advances in research for pathogenesis of paroxysmal nocturnal hemoglobinuria].
Murakami Y
Rinsho Ketsueki; 2021; 62(8):944-953. PubMed ID: 34497235
[TBL] [Abstract][Full Text] [Related]
19. The pathophysiology of paroxysmal nocturnal hemoglobinuria.
Parker CJ
Exp Hematol; 2007 Apr; 35(4):523-33. PubMed ID: 17379062
[TBL] [Abstract][Full Text] [Related]
20. Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN; Harakalova M; Brilstra EH; van Berkestijn FM; Hofstede FC; van Vught AJ; Cuppen E; Kloosterman W; Ploos van Amstel HK; van Haaften G; van Haelst MM
Am J Med Genet A; 2014 Jan; 164A(1):29-35. PubMed ID: 24259184
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
