These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 7705839)

  • 1. A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.
    Prades E; Chambon C; Dailey TA; Dailey HA; Brière J; Grandchamp B
    Hum Genet; 1995 Apr; 95(4):424-8. PubMed ID: 7705839
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
    Cotter PD; May A; Fitzsimons EJ; Houston T; Woodcock BE; al-Sabah AI; Wong L; Bishop DF
    J Clin Invest; 1995 Oct; 96(4):2090-6. PubMed ID: 7560104
    [TBL] [Abstract][Full Text] [Related]  

  • 3. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
    Cox TC; Bottomley SS; Wiley JS; Bawden MJ; Matthews CS; May BK
    N Engl J Med; 1994 Mar; 330(10):675-9. PubMed ID: 8107717
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
    Hurford MT; Marshall-Taylor C; Vicki SL; Zhou JZ; Silverman LM; Rezuke WN; Altman A; Tsongalis GJ
    Clin Chim Acta; 2002 Jul; 321(1-2):49-53. PubMed ID: 12031592
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].
    Zhu P; Bu D
    Zhonghua Xue Ye Xue Za Zhi; 2000 Sep; 21(9):478-81. PubMed ID: 11877024
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel
    Lee JS; Gu J; Yoo HJ; Koh Y; Kim HK
    Ann Clin Lab Sci; 2017 May; 47(3):319-322. PubMed ID: 28667034
    [TBL] [Abstract][Full Text] [Related]  

  • 7. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
    Cotter PD; Rucknagel DL; Bishop DF
    Blood; 1994 Dec; 84(11):3915-24. PubMed ID: 7949148
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
    Jardine PE; Cotter PD; Johnson SA; Fitzsimons EJ; Tyfield L; Lunt PW; Bishop DF
    J Med Genet; 1994 Mar; 31(3):213-8. PubMed ID: 7912287
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.
    Cox TC; Kozman HM; Raskind WH; May BK; Mulley JC
    Hum Mol Genet; 1992 Nov; 1(8):639-41. PubMed ID: 1301172
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Congenital sideroblastic anemia-a new family with identification of K156E mutation of ALAS2 gene and literature review].
    Cui R; Xu Z; Qin T; Zhang Y; Xiao Z
    Zhonghua Xue Ye Xue Za Zhi; 2014 Feb; 35(2):142-6. PubMed ID: 24606657
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.
    Cazzola M; May A; Bergamaschi G; Cerani P; Rosti V; Bishop DF
    Blood; 2000 Dec; 96(13):4363-5. PubMed ID: 11110715
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.
    Edgar AJ; Vidyatilake HM; Wickramasinghe SN
    Eur J Haematol; 1998 Jul; 61(1):55-8. PubMed ID: 9688293
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
    Cotter PD; May A; Li L; Al-Sabah AI; Fitzsimons EJ; Cazzola M; Bishop DF
    Blood; 1999 Mar; 93(5):1757-69. PubMed ID: 10029606
    [TBL] [Abstract][Full Text] [Related]  

  • 14. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
    Maguire A; Hellier K; Hammans S; May A
    Br J Haematol; 2001 Dec; 115(4):910-7. PubMed ID: 11843825
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia.
    Edgar AJ; Losowsky MS; Noble JS; Wickramasinghe SN
    Eur J Haematol; 1997 Jan; 58(1):1-4. PubMed ID: 9020366
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
    Lee PL; Barton JC; Rao SV; Acton RT; Adler BK; Beutler E
    Blood Cells Mol Dis; 2006; 36(2):292-7. PubMed ID: 16446107
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
    Bekri S; Kispal G; Lange H; Fitzsimons E; Tolmie J; Lill R; Bishop DF
    Blood; 2000 Nov; 96(9):3256-64. PubMed ID: 11050011
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.
    Huang J; Ge M; Shao Y; Wang M; Jin P; Huo J; Li X; Zhang J; Nie N; Zheng Y
    BMC Med Genomics; 2021 Apr; 14(1):107. PubMed ID: 33858445
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
    Cazzola M; Malcovati L
    Hematology Am Soc Hematol Educ Program; 2015; 2015():19-25. PubMed ID: 26637696
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.
    Noble JS; Taylor GR; Losowsky MS; Hall R; Turner G; Mueller RF; Stewart AD
    J Med Genet; 1995 May; 32(5):389-92. PubMed ID: 7616548
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.