Fisher CA - Search Results

1

Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.

Scott C, Downes DJ, Brown JM, Beagrie R, Olijnik AA, Gosden M, Schwessinger R, Fisher CA, Rose A, Ferguson DJP, Johnson E, Hill QA, Okoli S, Renella R, Ryan K, Brand M, Hughes J, Roy NBA, Higgs DR, Babbs C, Buckle VJ. Scott C, et al. Among authors: fisher ca. Haematologica. 2021 Nov 1;106(11):2960-2970. doi: 10.3324/haematol.2020.260158. Haematologica. 2021. PMID: 33121234 Free PMC article.

2

Clinical phenotypes and molecular characterization of Hb H-Paksé disease.

Viprakasit V, Tanphaichitr VS, Pung-Amritt P, Petrarat S, Suwantol L, Fisher C, Higgs DR. Viprakasit V, et al. Haematologica. 2002 Feb;87(2):117-25. Haematologica. 2002. PMID: 11836160

3

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

Steensma DP, Higgs DR, Fisher CA, Gibbons RJ. Steensma DP, et al. Among authors: fisher ca. Blood. 2004 Mar 15;103(6):2019-26. doi: 10.1182/blood-2003-09-3360. Epub 2003 Oct 30. Blood. 2004. PMID: 14592816 Free article.

4

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.

Costa DB, Fisher CA, Miller KB, Pihan GA, Steensma DP, Gibbons RJ, Higgs DR. Costa DB, et al. Among authors: fisher ca. Eur J Haematol. 2006 May;76(5):432-5, 453. doi: 10.1111/j.1600-0609.2006.00628.x. Epub 2006 Feb 15. Eur J Haematol. 2006. PMID: 16480427

5

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.

De Gobbi M, Viprakasit V, Hughes JR, Fisher C, Buckle VJ, Ayyub H, Gibbons RJ, Vernimmen D, Yoshinaga Y, de Jong P, Cheng JF, Rubin EM, Wood WG, Bowden D, Higgs DR. De Gobbi M, et al. Science. 2006 May 26;312(5777):1215-7. doi: 10.1126/science.1126431. Science. 2006. PMID: 16728641

6

A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype.

Rugless MJ, Fisher CA, Old JM, Sloane-Stanley J, Ayyub H, Higgs DR, Garrick D. Rugless MJ, et al. Among authors: fisher ca. Hum Mol Genet. 2008 Oct 1;17(19):3084-93. doi: 10.1093/hmg/ddn205. Epub 2008 Jul 15. Hum Mol Genet. 2008. PMID: 18632685

7

The changing face of homozygous sickle cell disease: 102 patients over 60 years.

Serjeant GR, Serjeant BE, Mason KP, Hambleton IR, Fisher C, Higgs DR. Serjeant GR, et al. Int J Lab Hematol. 2009 Dec;31(6):585-96. doi: 10.1111/j.1751-553X.2008.01089.x. Epub 2008 Jul 17. Int J Lab Hematol. 2009. PMID: 18644042

8

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).

Haas PS, Roy NB, Gibbons RJ, Deville MA, Fisher C, Schwabe M, Bissé E, van Dorsselaer A, Higgs DR, Lübbert M. Haas PS, et al. Br J Haematol. 2009 Feb;144(4):538-45. doi: 10.1111/j.1365-2141.2008.07505.x. Br J Haematol. 2009. PMID: 19055664 Free article.

9

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition.

Lower KM, Hughes JR, De Gobbi M, Henderson S, Viprakasit V, Fisher C, Goriely A, Ayyub H, Sloane-Stanley J, Vernimmen D, Langford C, Garrick D, Gibbons RJ, Higgs DR. Lower KM, et al. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21771-6. doi: 10.1073/pnas.0909331106. Epub 2009 Dec 3. Proc Natl Acad Sci U S A. 2009. PMID: 19959666 Free PMC article.

10

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

Viprakasit V, Ekwattanakit S, Riolueang S, Chalaow N, Fisher C, Lower K, Kanno H, Tachavanich K, Bejrachandra S, Saipin J, Juntharaniyom M, Sanpakit K, Tanphaichitr VS, Songdej D, Babbs C, Gibbons RJ, Philipsen S, Higgs DR. Viprakasit V, et al. Blood. 2014 Mar 6;123(10):1586-95. doi: 10.1182/blood-2013-09-526087. Epub 2014 Jan 17. Blood. 2014. PMID: 24443441 Free article.

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