EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Traeger-Synodinos, Joanne, Harteveld, Cornelis L, Old, John M, Petrou, Mary, Galanello, Renzo, Giordano, Piero, Angastioniotis, Michael, De la Salle, Barbara, Henderson, Shirley, May, Alison
Published in European journal of human genetics : EJHG (01.04.2015)
Published in European journal of human genetics : EJHG (01.04.2015)
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Journal Article
Eleven Cases of Hb J-Paris-I [ HBA2 : c.38C>A (or HBA1 )]: A Stable α Chain Variant Elutes in the P3 Window on High-Performance Liquid Chromatography
Khalil, Mohamed S M, Timbs, Adele T, Henderson, Shirley J, Schuh, Anna, Old, John M
Published in Hemoglobin (03.09.2021)
Published in Hemoglobin (03.09.2021)
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Journal Article
Eight Cases of Hb Winnipeg [ HBA2 : c.226G>T (or HBA1 )]: A Detailed Study
Khalil, Mohamed S M, Timbs, Adele T, Henderson, Shirley J, Schuh, Anna, Old, John M
Published in Hemoglobin (04.07.2021)
Published in Hemoglobin (04.07.2021)
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Journal Article
Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and/or HBA1 : c.-24C>G (or HBA2 ) Variants
Khalil, Mohamed S M, Timbs, Adele T, Henderson, Shirley J, Schuh, Anna, Old, John M
Published in Hemoglobin (02.09.2020)
Published in Hemoglobin (02.09.2020)
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Journal Article
A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK
Khalil, Mohamed S.M., Timbs, Adele T., Henderson, Shirley J., Schuh, Anna, El-Khawanky, Mohamed M., Old, John M.
Published in Hemoglobin (03.05.2020)
Published in Hemoglobin (03.05.2020)
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Journal Article
Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression
Khalil, Mohamed S M, Timbs, Adele T, Henderson, Shirley J, Schuh, Anna, Old, John M
Published in Hemoglobin (01.11.2020)
Published in Hemoglobin (01.11.2020)
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Journal Article
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Traeger-Synodinos, Joanne, Harteveld, Cornelis L, Old, John M, Petrou, Mary, Galanello, Renzo, Giordano, Piero, Angastioniotis, Michael, De la Salle, Barbara, Henderson, Shirley, May, Alison
Published in European journal of human genetics : EJHG (01.04.2015)
Published in European journal of human genetics : EJHG (01.04.2015)
Get full text
Journal Article
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations
Henderson, Shirley J., Timbs, Adele T., McCarthy, Janice, Gallienne, Alice E., Proven, Melanie, Rugless, Michelle J., Lopez, Herminio, Eglinton, Jennifer, Dziedzic, Dariusz, Beardsall, Matthew, Khalil, Mohamed S.M., Old, John M.
Published in Hemoglobin (03.03.2016)
Published in Hemoglobin (03.03.2016)
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Journal Article
Characterization of Hb Lepore Variants in the UK Population
Guo, Lina, Kausar, Anika, Old, John M., Henderson, Shirley J., Gallienne, Alice E.
Published in Hemoglobin (01.01.2015)
Published in Hemoglobin (01.01.2015)
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Journal Article
A large deletion in the human α-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype
Rugless, Michelle J., Fisher, Chris A., Old, John M., Sloane-Stanley, Jacqueline, Ayyub, Helena, Higgs, Douglas R., Garrick, David
Published in Human molecular genetics (01.10.2008)
Published in Human molecular genetics (01.10.2008)
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Journal Article
The molecular basis for the thalassaemias in Sri Lanka
Fisher, Christopher A., Premawardhena, Anuja, De Silva, Shanthimala, Perera, Giathra, Rajapaksa, Shabna, Olivieri, Nancy A., Old, John M., Weatherall, David J.
Published in British journal of haematology (01.05.2003)
Published in British journal of haematology (01.05.2003)
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Journal Article
Identification of Three Novel Mutations [−41 (A>C), codon 24 (-G), and IVS-I-109 (−T)], in a Study of β-Thalassemia Alleles in the Isfahan Region of Iran
Salehi, Rasoul, Fisher, Christopher A., Bignell, Patricia A., Eslami, Gilda, Old, John M.
Published in Hemoglobin (01.01.2010)
Published in Hemoglobin (01.01.2010)
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Journal Article
Multiplex Ligation-Dependent Probe Amplification Identification of 17 Different β-Globin Gene Deletions (Including Four Novel Mutations) in the Uk Population
Gallienne, Alice E., Dréau, Hélène M., McCarthy, Janice, Timbs, Adele T., Hampson, Janet M., Schuh, Anna, Old, John M., Henderson, Shirley J.
Published in Hemoglobin (01.12.2009)
Published in Hemoglobin (01.12.2009)
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Journal Article
The accurate prediction of rare hemoglobin variants using a combination of high performance liquid chromatography, retention time and isoelectric focusing electrophoresis position
Khalil, Mohamed S, Molyneux, Adele T, Marouf, Samy, Eldamanhory, Ghazy A, Schuh, Anna H, Henderson, Shirley J, Old, John M
Published in Saudi medical journal (01.09.2009)
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Published in Saudi medical journal (01.09.2009)
Journal Article
Multicenter Study of the Molecular Basis of Thalassemia Intermedia in Different Ethnic Populations
Verma, Ishwar C., Kleanthous, Marina, Saxena, Renu, Fucharoen, Suthat, Winichagoon, Pranee, Raizuddin, Sheikh, Khan, Shaheen N., Akbari, Mohammad T., Izadyar, Mina, Kotea, Navratnam, Old, John M., Ioannou, Panayiotis A., Khan, Baldip
Published in Hemoglobin (01.01.2007)
Published in Hemoglobin (01.01.2007)
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Journal Article