Schuh A - Search Results

1

Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.

Haywood A, Dreau H, Timbs A, Schuh A, Old J, Henderson S. Haywood A, et al. Among authors: schuh a. Ann Hematol. 2010 Dec;89(12):1215-21. doi: 10.1007/s00277-010-1013-2. Epub 2010 Jun 22. Ann Hematol. 2010. PMID: 20567827

2

Haemoglobin (Hb) G-Philadelphia, Hb Stanleyville-II, Hb G-Norfolk, Hb Matsue-Oki and Hb Mizushi can form a panel of α-chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G-Philadelphia.

Khalil MS, Timbs A, Henderson S, Schuh A, Hussein MR, Old J. Khalil MS, et al. Among authors: schuh a. Int J Lab Hematol. 2011 Jun;33(3):318-25. doi: 10.1111/j.1751-553X.2010.01289.x. Epub 2011 Jan 26. Int J Lab Hematol. 2011. PMID: 21266019

3

Incidence of haemoglobinopathies in various populations - the impact of immigration.

Henderson S, Timbs A, McCarthy J, Gallienne A, Van Mourik M, Masters G, May A, Khalil MS, Schuh A, Old J. Henderson S, et al. Among authors: schuh a. Clin Biochem. 2009 Dec;42(18):1745-56. doi: 10.1016/j.clinbiochem.2009.05.012. Epub 2009 Jun 1. Clin Biochem. 2009. PMID: 19497317

4

Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.

Gallienne AE, Dréau HM, McCarthy J, Timbs AT, Hampson JM, Schuh A, Old JM, Henderson SJ. Gallienne AE, et al. Among authors: schuh a. Hemoglobin. 2009;33(6):406-16. doi: 10.3109/03630260903344564. Hemoglobin. 2009. PMID: 19958185

5

Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.

Gallienne AE, Iberson NM, Dréau HM, Jackson H, Bignell PA, Old JM, Schuh A, Henderson SJ. Gallienne AE, et al. Among authors: schuh a. Hemoglobin. 2010;34(1):110-4. doi: 10.3109/03630260903554803. Hemoglobin. 2010. PMID: 20113295

6

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.

Gallienne AE, Dréau HM, Schuh A, Old JM, Henderson S. Gallienne AE, et al. Among authors: schuh a. Haematologica. 2012 Mar;97(3):340-3. doi: 10.3324/haematol.2011.055442. Epub 2011 Nov 18. Haematologica. 2012. PMID: 22102705 Free PMC article.

7

A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

Khalil MS, Marouf S, Element D, Timbs A, Gallienne A, Schuh A, Old JM, Henderson S. Khalil MS, et al. Among authors: schuh a. Hemoglobin. 2014;38(3):201-6. doi: 10.3109/03630269.2014.885908. Epub 2014 Mar 6. Hemoglobin. 2014. PMID: 24601842

8

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

Khalil MSM, Timbs AT, Henderson SJ, Schuh A, El-Khawanky MM, Old JM. Khalil MSM, et al. Among authors: schuh a. Hemoglobin. 2020 May;44(3):195-200. doi: 10.1080/03630269.2020.1783288. Epub 2020 Jun 29. Hemoglobin. 2020. PMID: 32597250

9

Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or HBA1: c.-24C>G (or HBA2) Variants.

Khalil MSM, Timbs AT, Henderson SJ, Schuh A, Old JM. Khalil MSM, et al. Among authors: schuh a. Hemoglobin. 2020 Sep;44(5):364-367. doi: 10.1080/03630269.2020.1817755. Epub 2020 Sep 14. Hemoglobin. 2020. PMID: 32924661

10

Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression.

Khalil MSM, Timbs AT, Henderson SJ, Schuh A, Old JM. Khalil MSM, et al. Among authors: schuh a. Hemoglobin. 2020 Nov;44(6):442-445. doi: 10.1080/03630269.2020.1850473. Epub 2020 Nov 29. Hemoglobin. 2020. PMID: 33249879

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