John Old
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Explore the profile of John Old including associated specialties, affiliations and a list of published articles.
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10
Citations
210
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Recent Articles
1.
Kountouris P, Lederer C, Fanis P, Feleki X, Old J, Kleanthous M
PLoS One
. 2014 Jul;
9(7):e103020.
PMID: 25058394
Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on the globin gene clusters, in addition...
2.
Old J, Henderson S
Expert Opin Med Diagn
. 2013 Mar;
4(3):225-40.
PMID: 23488532
Importance Of The Field: The globin gene mutations have been used as a prototype for the development of many techniques of mutation detection for > 30 years, and consequently there...
3.
Giardine B, Borg J, Higgs D, Peterson K, Philipsen S, Maglott D, et al.
Nat Genet
. 2011 Mar;
43(4):295-301.
PMID: 21423179
We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations...
4.
Wagner S, de Castro S, Gonzalez T, Santin A, Zaleski C, Azevedo L, et al.
Genet Test Mol Biomarkers
. 2010 Aug;
14(4):565-9.
PMID: 20722469
Aim: The aim of this study was to estimate the prevalence of hemoglobinopathies in South Brazil. Methods: Samples of dried blood spots collected by heel prick in neonates were evaluated...
5.
Haywood A, Dreau H, Timbs A, Schuh A, Old J, Henderson S
Ann Hematol
. 2010 Jun;
89(12):1215-21.
PMID: 20567827
Non-deletional α(+)-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of α(+)-thalassaemia. Screening for the common deletional forms of α-thalassaemia by Gap-PCR is widely practiced;...
6.
Lederer C, Basak A, Aydinok Y, Christou S, El-Beshlawy A, Eleftheriou A, et al.
Hemoglobin
. 2009 Aug;
33(3):163-76.
PMID: 19657830
Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may...
7.
Henderson S, Timbs A, McCarthy J, Gallienne A, Van Mourik M, Masters G, et al.
Clin Biochem
. 2009 Jun;
42(18):1745-56.
PMID: 19497317
Objectives: The aim of this study was to update the incidence data of beta thalassaemia mutations in various populations and compare it to the spectrum of mutations in the United...
8.
Moradkhani K, Prehu C, Old J, Henderson S, Balamitsa V, Luo H, et al.
Ann Hematol
. 2008 Oct;
88(6):535-43.
PMID: 18923834
The human alpha-globin genes are paralogues, sharing a high degree of DNA sequence similarity and producing an identical alpha-globin chain. Over half of the alpha-globin structural variants reported to date...
9.
Wajcman H, Traeger-Synodinos J, Papassotiriou I, Giordano P, Harteveld C, Baudin-Creuza V, et al.
Hemoglobin
. 2008 Jul;
32(4):327-49.
PMID: 18654884
We report an update of the alpha-globin gene point mutations resulting in structural modification associated with an alpha-thalassemia (alpha-thal) phenotype. These variants, barely symptomatic in the heterozygous state, are either...
10.
Henderson S, Chapple M, Rugless M, Fisher C, Kinsey S, Old J
Br J Haematol
. 2006 Oct;
135(5):743-5.
PMID: 17054428
No abstract available.