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Swee Lay Thein

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

TOP 3
Thein Swee Lay; Menzel Stephan; Lathrop Mark; Garner Chad
Control of fetal hemoglobin: new insights emerging from genomics and clinical implications.
Wahlberg Karin; Jiang Jie; Rooks Helen; Jawaid Kiran; Matsuda Fumihiko; Yamaguchi Masao; Lathrop Mark; Thein Swee Lay; Best Steve
The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells.
Ulug Pinar; Vasavda Nisha; Awogbade Moji; Cunningham Juliette; Menzel Stephan; Thein Swee Lay
Association of sickle avascular necrosis with bone morphogenic protein 6.

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All Publications

2009: Thein Swee Lay; Menzel Stephan; Lathrop Mark; Garner Chad
Control of fetal hemoglobin: new insights emerging from genomics and clinical implications.
Human molecular genetics 2009;18(R2):R216-23.
2009: Wahlberg Karin; Jiang Jie; Rooks Helen; Jawaid Kiran; Matsuda Fumihiko; Yamaguchi Masao; Lathrop Mark; Thein Swee Lay; Best Steve
The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells.
Blood 2009;114(6):1254-62.
2009: Ulug Pinar; Vasavda Nisha; Awogbade Moji; Cunningham Juliette; Menzel Stephan; Thein Swee Lay
Association of sickle avascular necrosis with bone morphogenic protein 6.
Annals of hematology 2009;88(8):803-5.
2009: Rees David C; Lambert Christopher; Cooper Elaine; Bartram Jack; Goss David; Deane Colin; Thein Swee Lay
Glucose 6 phosphate dehydrogenase deficiency is not associated with cerebrovascular disease in children with sickle cell anemia.
Blood 2009;114(3):742-3; author reply 743-4.
2009: Bansal Sukhvinder S; Halket John M; Fusova Jane; Bomford Adrian; Simpson Robert J; Vasavda Nisha; Thein Swee Lay; Hider Robert C
Quantification of hepcidin using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Rapid communications in mass spectrometry : RCM 2009;23(11):1531-42.
2009: Mittal Hrishi; Roberts Lara; Fuller Gary W; O'Driscoll Sandra; Dick Moira C; Height Sue E; Thein Swee Lay; Rees David C
The effects of air quality on haematological and clinical parameters in children with sickle cell anaemia.
Annals of hematology 2009;88(6):529-33.
2009: Thein Swee Lay; Menzel Stephan
Discovering the genetics underlying foetal haemoglobin production in adults.
British journal of haematology 2009;145(4):455-67.
2009: Soranzo Nicole; Rendon Augusto; Gieger Christian; Jones Chris I; Watkins Nicholas A; Menzel Stephan; Döring Angela; Stephens Jonathan; Prokisch Holger; Erber Wendy; Potter Simon C; Bray Sarah L; Burns Philippa; Jolley Jennifer; Falchi Mario; Kühnel Brigitte; Erdmann Jeanette; Schunkert Heribert; Samani Nilesh J; Illig Thomas; Garner Stephen F; Rankin Angela; Meisinger Christa; Bradley John R; Thein Swee Lay; Goodall Alison H; Spector Tim D; Deloukas Panos; Ouwehand Willem H
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.
Blood 2009;113(16):3831-7.
2009: Creary Lisa E; McKenzie Colin A; Menzel Stephan; Hanchard Neil A; Taylor Veronica; Hambleton Ian; Spector Tim D; Forrester Terrence E; Thein Swee Lay
Ethnic differences in F cell levels in Jamaica: a potential tool for identifying new genetic loci controlling fetal haemoglobin.
British journal of haematology 2009;144(6):954-60.
2009: Bansal Sukhvinder S; Halket John M; Bomford Adrian; Simpson Robert J; Vasavda Nisha; Thein Swee Lay; Hider Robert C
Quantitation of hepcidin in human urine by liquid chromatography-mass spectrometry.
Analytical biochemistry 2009;384(2):245-53.
2009: Creary Lisa E; Ulug Pinar; Menzel Stephan; McKenzie Colin A; Hanchard Neil A; Taylor Veronica; Farrall Martin; Forrester Terrence E; Thein Swee Lay
Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.
PloS one 2009;4(1):e4218.
2008: Alli Nazeer; Coetzee Marius; Louw Vernon; van Rensburg Ben; Rossouw Gerrit; Thompson Lisa; Pissard Serge; Thein Swee Lay
Sickle cell disease in a carrier with pyruvate kinase deficiency.
Hematology (Amsterdam, Netherlands) 2008;13(6):369-72.
2008: Vasavda Nisha; Badiger Sheela; Rees David; Height Sue; Howard Jo; Thein Swee Lay
The presence of alpha-thalassaemia trait blunts the response to hydroxycarbamide in patients with sickle cell disease.
British journal of haematology 2008;143(4):589-92.
2008: Ulug Pinar; Vasavda Nisha; Kumar Rohan; Keir Linda; Awogbade Moji; Cunningham Juliette; Rees David C; Menzel Stephan; Thein Swee Lay
Hydroxyurea therapy lowers circulating DNA levels in sickle cell anemia.
American journal of hematology 2008;83(9):714-6.
2008: Thein Swee Lay
Genetic modifiers of the beta-haemoglobinopathies.
British journal of haematology 2008;141(3):357-66.
2008: dos Santos Camila O; Zhou Suiping; Secolin Rodrigo; Wang Xiaomei; Cunha Anderson F; Higgs Douglas R; Kwiatkowski Janet L; Thein Swee Lay; Gallagher Patrick G; Costa Fernando F; Weiss Mitchell J
Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function.
American journal of hematology 2008;83(2):103-8.
2007: Berry Philip A; Cross Timothy J S; Thein Swee Lay; Portmann Bernard C; Wendon Julia A; Karani John B; Heneghan Michael A; Bomford Adrian
Hepatic dysfunction in sickle cell disease: a new system of classification based on global assessment.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2007;5(12):1469-76; quiz 1369.
2007: Broberg Craig S; Uebing Anselm; Cuomo Linda; Thein Swee Lay; Papadopoulos Michael G; Gatzoulis Michael A
Adult patients with Eisenmenger syndrome report flying safely on commercial airlines.
Heart (British Cardiac Society) 2007;93(12):1599-603.
2007: Menzel Stephan; Jiang Jie; Silver Nicholas; Gallagher Joy; Cunningham Juliette; Surdulescu Gabriela; Lathrop Mark; Farrall Martin; Spector Tim D; Thein Swee Lay
The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans.
Blood 2007;110(10):3624-6.
2007: Vasavda Nisha; Ulug Pinar; Kondaveeti Sheila; Ramasamy Karthik; Sugai Taku; Cheung Gordon; Rees David C; Awogbade Moji; Bannister Sybil; Cunningham Juliette; Menzel Stephan; Thein Swee Lay
Circulating DNA: a potential marker of sickle cell crisis.
British journal of haematology 2007;139(2):331-6.
2007: Menzel Stephan; Garner Chad; Gut Ivo; Matsuda Fumihiko; Yamaguchi Masao; Heath Simon; Foglio Mario; Zelenika Diana; Boland Anne; Rooks Helen; Best Steve; Spector Tim D; Farrall Martin; Lathrop Mark; Thein Swee Lay
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
Nature genetics 2007;39(10):1197-9.
2007: Sylvester K P; Patey R A; Rafferty G F; Rees D; Thein S L; Greenough A
Peak expiratory flow in Afro-Caribbean children with and without sickle cell anaemia.
Acta paediatrica (Oslo, Norway : 1992) 2007;96(9):1308-10.
2007: Cross Timothy J S; Berry Philip A; Akbar Nuzhat; Wendon Julia; Thein S L; Harrison Phillip M
Sickle liver disease--an unusual presentation in a compound heterozygote for HbS and a novel beta-thalassemia mutation.
American journal of hematology 2007;82(9):852-4.
2007: Sylvester Karl P; Patey Richard A; Kassim Zainab; Rafferty Gerrard F; Rees David; Thein Swee Lay; Greenough Anne
Lung gas transfer in children with sickle cell anaemia.
Respiratory physiology & neurobiology 2007;158(1):70-4.
2007: Vasavda Nisha; Menzel Stephan; Kondaveeti Sheila; Maytham Emma; Awogbade Moji; Bannister Sybil; Cunningham Juliette; Eichholz Andrew; Daniel Yvonne; Okpala Iheanyi; Fulford Tony; Thein Swee Lay
The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease.
British journal of haematology 2007;138(2):263-70.
2007: Thein Swee Lay; Menzel Stephan; Peng Xu; Best Steve; Jiang Jie; Close James; Silver Nicholas; Gerovasilli Ageliki; Ping Chen; Yamaguchi Masao; Wahlberg Karin; Ulug Pinar; Spector Tim D; Garner Chad; Matsuda Fumihiko; Farrall Martin; Lathrop Mark
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(27):11346-51.
2007: Yallop Deborah; Duncan Edward R; Norris Elizabeth; Fuller Gary W; Thomas Nikki; Walters Joan; Dick Moira C; Height Susan E; Thein Swee L; Rees David C
The associations between air quality and the number of hospital admissions for acute pain and sickle-cell disease in an urban environment.
British journal of haematology 2007;136(6):844-8.
2007: Sylvester Karl P; Patey Richard A; Rafferty Gerrard F; Rees David; Thein Swee Lay; Greenough Anne
Airway hyperresponsiveness and acute chest syndrome in children with sickle cell anemia.
Pediatric pulmonology 2007;42(3):272-6.
2007: Sylvester Karl P; Patey Richard A; Broughton Simon; Rafferty Gerrard F; Rees David; Thein Swee Lay; Greenough Anne
Temporal relationship of asthma to acute chest syndrome in sickle cell disease.
Pediatric pulmonology 2007;42(2):103-6.
2007: Gerovassili Ageliki; Garner Chad; Nicolaides Kypros H; Thein Swee Lay; Rees David C
Free fetal DNA in maternal circulation: a potential prognostic marker for chromosomal abnormalities?
Prenatal diagnosis 2007;27(2):104-10.
2007: Quek Lynn; Thein Swee Lay
Molecular therapies in beta-thalassaemia.
British journal of haematology 2007;136(3):353-65.
2006: Gerovassili Ageliki; Nicolaides Kypros H; Thein Swee Lay; Rees David C
Cell-free DNA levels in pregnancies at risk of sickle-cell disease and significant ethnic variation.
British journal of haematology 2006;135(5):738-41.
2006: Sylvester K P; Desai S R; Wells A U; Hansell D M; Awogbade M; Thein S L; Greenough A
Computed tomography and pulmonary function abnormalities in sickle cell disease.
The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology 2006;28(4):832-8.
2006: Jiang Jie; Best Steve; Menzel Stephan; Silver Nicholas; Lai Mei I; Surdulescu Gabriela L; Spector Tim D; Thein Swee Lay
cMYB is involved in the regulation of fetal hemoglobin production in adults.
Blood 2006;108(3):1077-83.
2006: Sylvester Karl P; Patey Richard A; Milligan Peter; Rafferty Gerrard F; Broughton Simon; Rees David; Thein Swee Lay; Greenough Anne
Impact of acute chest syndrome on lung function of children with sickle cell disease.
The Journal of pediatrics 2006;149(1):17-22.
2006: Broberg Craig S; Bax Bridget E; Okonko Darlington O; Rampling Michael W; Bayne Stephanie; Harries Carl; Davidson Simon J; Uebing Anselm; Khan Arif Anis; Thein Swee; Gibbs J Simon R; Burman John; Gatzoulis Michael A
Blood viscosity and its relationship to iron deficiency, symptoms, and exercise capacity in adults with cyanotic congenital heart disease.
Journal of the American College of Cardiology 2006;48(2):356-65.
2006: Lai Mei I; Jiang Jie; Silver Nicholas; Best Steve; Menzel Stephan; Mijovic Aleksandar; Colella Stefano; Ragoussis Jiannis; Garner Chad; Weiss Mitchell J; Thein Swee L
Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia.
British journal of haematology 2006;133(6):675-82.
2006: Garner Chad; Best Steve; Menzel Stephan; Rooks Helen; Spector Tim D; Thein Swee Lay
Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin.
European journal of human genetics : EJHG 2006;14(1):101-8.
2006: Silver Nicholas; Best Steve; Jiang Jie; Thein Swee Lay
Selection of housekeeping genes for gene expression studies in human reticulocytes using real-time PCR.
BMC molecular biology 2006;7():33.
2005: Jones Simon; Duncan Edward R; Thomas Nikki; Walters Joan; Dick Moira C; Height Susan E; Stephens Adrian D; Thein Swee Lay; Rees David C
Windy weather and low humidity are associated with an increased number of hospital admissions for acute pain and sickle cell disease in an urban environment with a maritime temperate climate.
British journal of haematology 2005;131(4):530-3.
2005: Garner C; Menzel S; Martin C; Silver N; Best S; Spector T D; Thein S L
Interaction between two quantitative trait loci affects fetal haemoglobin expression.
Annals of human genetics 2005;69(Pt 6):707-14.
2005: Dalton R Neil; Turner Charles; Dick Moira; Height Susan E; Awogbade Moji; Inusa Baba; Okpala Iheanyi; O'Driscoll Sandra; Thein Swee Lay; Rees David C
The measurement of urinary hydroxyurea in sickle cell anaemia.
British journal of haematology 2005;130(1):138-44.
2005: Thein Swee Lay
Genetic modifiers of beta-thalassemia.
Haematologica 2005;90(5):649-60.
2005: Rooks Helen; Bergounioux Jean; Game Laurence; Close James Paul; Osborne Cameron; Best Steve; Senior Tania; Height Susan; Thompson Richard; Hadzic Nedim; Fraser Peter; Bolton-Maggs Paula; Thein Swee Lay
Heterogeneity of the epsilon gamma delta beta-thalassaemias: characterization of three novel English deletions.
British journal of haematology 2005;128(5):722-9.
2005: Sylvester Karl P; Patey Richard A; Rafferty Gerrard F; Rees David; Thein Swee Lay; Greenough Anne
Exhaled carbon monoxide levels in children with sickle cell disease.
European journal of pediatrics 2005;164(3):162-5.
2005: Thein Swee Lay
Pathophysiology of beta thalassemia--a guide to molecular therapies.
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program 2005;():31-7.
2004: Escuredo E; Marinaki A M; Duley J A; Thein S L; Rees D C
The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.
Nucleosides, nucleotides & nucleic acids 2004;23(8-9):1261-3.
2004: Garner Chad; Silver Nicholas; Best Steve; Menzel Stephan; Martin Charlotte; Spector Tim D; Thein Swee Lay
Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin.
Blood 2004;104(7):2184-6.
2004: Pal Saumen; Nemeth Michael J; Bodine David; Miller Jeffery L; Svaren John; Thein Swee Lay; Lowry Philip J; Bresnick Emery H
Neurokinin-B transcription in erythroid cells: direct activation by the hematopoietic transcription factor GATA-1.
The Journal of biological chemistry 2004;279(30):31348-56.
2004: Clark B E; Thein S L
Molecular diagnosis of haemoglobin disorders.
Clinical and laboratory haematology 2004;26(3):159-76.
2004: Close James; Game Laurence; Clark Barnaby; Bergounioux Jean; Gerovassili Ageliki; Thein Swee Lay
Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults.
BMC genomics 2004;5(1):33.
2004: Thein Swee Lay
Genetic insights into the clinical diversity of beta thalassaemia.
British journal of haematology 2004;124(3):264-74.
2004: Sylvester K P; Patey R A; Milligan P; Dick M; Rafferty G F; Rees D; Thein S L; Greenough A
Pulmonary function abnormalities in children with sickle cell disease.
Thorax 2004;59(1):67-70.
2003: Best Steve; Salvati Filippo; Kallo Juraj; Garner Chad; Height Sue; Thein Swee Lay; Rees David C
Lamin B-receptor mutations in Pelger-Huët anomaly.
British journal of haematology 2003;123(3):542-4.
2003: Percy Melanie J; Beard Michael E J; Carter Chris; Thein Swee Lay
Erythrocytosis and the Chuvash von Hippel-Lindau mutation.
British journal of haematology 2003;123(2):371-2.
2003: Garner Chad; Dew Tracy K; Sherwood Roy; Rees David; Thein Swee Lay
Heterocellular hereditary persistence of fetal haemoglobin affects the haematological parameters of beta-thalassaemia trait.
British journal of haematology 2003;123(2):353-8.
2003: Game Laurence; Bergounioux Jean; Close James Paul; Marzouka B Esperenza; Thein Swee Lay
A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family.
British journal of haematology 2003;123(1):154-9.
2002: Sumi Satoshi; Marinaki Anthony M; Arenas Monica; Fairbanks Lynette; Shobowale-Bakre Monsor; Rees David C; Thein Swee Lay; Ansari Azhar; Sanderson Jeremy; De Abreu Ronney A; Simmonds H Anne; Duley John A
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.
Human genetics 2002;111(4-5):360-7.
2002: Thein Swee Lay
Beta-thalassaemia prototype of a single gene disorder with multiple phenotypes.
International journal of hematology 2002;76 Suppl 2():96-104.
2002: Garner Chad P; Tatu Thanusak; Best Steve; Creary Lisa; Thein Swee Lay
Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin.
American journal of human genetics 2002;70(3):793-9.
2001: Marinaki A M; Escuredo E; Duley J A; Simmonds H A; Amici A; Naponelli V; Magni G; Seip M; Ben-Bassat I; Harley E H; Thein S L; Rees D C
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
Blood 2001;97(11):3327-32.
2000: Ho P J; Thein S L
Gene regulation and deregulation: a beta globin perspective.
Blood reviews 2000;14(2):78-93.
2000: Game L; Close J; Stephens P; Mitchell J; Best S; Rochette J; Louis-dit-Sully C; Riley J; See C G; Sanseau P; Kearney L; Bethel G; Humphray S; Dunham I; Mungall A; Thein S L
An integrated map of human 6q22.3-q24 including a 3-Mb high-resolution BAC/PAC contig encompassing a QTL for fetal hemoglobin.
Genomics 2000;64(3):264-76.
2000: Garner C; Tatu T; Reittie J E; Littlewood T; Darley J; Cervino S; Farrall M; Kelly P; Spector T D; Thein S L
Genetic influences on F cells and other hematologic variables: a twin heritability study.
Blood 2000;95(1):342-6.
1999: Thein S L
Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable?
British journal of haematology 1999;107(1):12-21.
1999: Ho P J; Sloane-Stanley J; Athanassiadou A; Wood W G; Thein S L
An in vitro system for expression analysis of mutations of the beta-globin gene: validation and application to two mutations in the 5' UTR.
British journal of haematology 1999;106(4):938-47.
1998: Smith R A; Ho P J; Clegg J B; Kidd J R; Thein S L
Recombination breakpoints in the human beta-globin gene cluster.
Blood 1998;92(11):4415-21.
1998: Ho P J; Hall G W; Watt S; West N C; Wimperis J W; Wood W G; Thein S L
Unusually severe heterozygous beta-thalassemia: evidence for an interacting gene affecting globin translation.
Blood 1998;92(9):3428-35.
1998: Thein S L; Reittie J E
F cells by immunofluorescent staining of erythrocyte smears.
Hemoglobin 1998;22(5-6):415-7.
1998: Thein S L; Craig J E
Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin.
Hemoglobin 1998;22(5-6):401-14.
1998: Rees D C; Singh B M; Luo L Y; Wickramasinghe S; Thein S L
Nontransfusional iron overload in thalassemia. Association with hereditary hemochromatosis.
Annals of the New York Academy of Sciences 1998;850():490-4.
1998: Ho P J; Hall G W; Luo L Y; Weatherall D J; Thein S L
Phenotypic prediction in beta-thalassemia.
Annals of the New York Academy of Sciences 1998;850():436-41.
1998: Garner C; Mitchell J; Hatzis T; Reittie J; Farrall M; Thein S L
Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23.
American journal of human genetics 1998;62(6):1468-74.
1998: Thein S L
Beta-thalassaemia.
Baillière's clinical haematology 1998;11(1):91-126.
1998: Ho P J; Hall G W; Luo L Y; Weatherall D J; Thein S L
Beta-thalassaemia intermedia: is it possible consistently to predict phenotype from genotype?
British journal of haematology 1998;100(1):70-8.
1997: Rees D C; Luo L Y; Thein S L; Singh B M; Wickramasinghe S
Nontransfusional iron overload in thalassemia: association with hereditary hemochromatosis.
Blood 1997;90(8):3234-6.
1997: Craig J E; Rochette J; Sampietro M; Wilkie A O; Barnetson R; Hatton C S; Demenais F; Thein S L
Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin.
Blood 1997;90(1):428-34.
1997: Thein S L
Molecular genetics and prenatal diagnosis of the thalassaemias.
The Malaysian journal of pathology 1997;19(1):1-9.
1997: Ho P J; Wickramasinghe S N; Rees D C; Lee M J; Eden A; Thein S L
Erythroblastic inclusions in dominantly inherited beta thalassemias.
Blood 1997;89(1):322-8.
1996: Rees D C; Duley J; Simmonds H A; Wonke B; Thein S L; Clegg J B; Weatherall D J
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency.
Blood 1996;88(7):2761-7.
1996: Lane D A; Auberger K; Ireland H; Roscher A A; Thein S L
Prenatal diagnosis in combined antithrombin and factor V gene mutation.
British journal of haematology 1996;94(4):753-5.
1996: Lane D A; Kunz G; Olds R J; Thein S L
Molecular genetics of antithrombin deficiency.
Blood reviews 1996;10(2):59-74.
1996: Craig J E; Sampietro M; Oscier D G; Contreras M; Thein S
Myelodysplastic syndrome with karyotype abnormality is associated with elevated F-cell production.
British journal of haematology 1996;93(3):601-5.
1996: Ho P J; Rochette J; Rees D C; Fisher C A; Huehns E R; Will A M; Thein S L
Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies.
Hemoglobin 1996;20(2):103-12.
1996: Ho P J; Rochette J; Fisher C A; Wonke B; Jarvis M K; Yardumian A; Thein S L
Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families.
Blood 1996;87(3):1170-8.
1996: Craig J E; Rochette J; Fisher C A; Weatherall D J; Marc S; Lathrop G M; Demenais F; Thein S
Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach.
Nature genetics 1996;12(1):58-64.
1996: Ireland H A; Boisclair M D; Taylor J; Thompson E; Thein S L; Girolami A; De Caterina M; Scopacasa F; De Stefano V; Leone G; Finazzi G; Cohen H; Lane D A
Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
Human mutation 1996;7(2):176-9.
1995: Rochette J; Barnetson R; Thein S L; Varet B; Valensi F
Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio.
American journal of hematology 1995;48(4):289-90.
1995: Chowdhury V; Mille B; Olds R J; Lane D A; Watton J; Barrowcliffe T W; Pabinger I; Woodcock B E; Thein S L
Antithrombins Southport (Leu 99 to Val) and Vienna (Gln 118 to Pro): two novel antithrombin variants with abnormal heparin binding.
British journal of haematology 1995;89(3):602-9.
1994: Rochette J; Craig J E; Thein S L
Fetal hemoglobin levels in adults.
Blood reviews 1994;8(4):213-24.
1994: Bayston T A; Ireland H; Olds R J; Thein S L; Lane D A
A polymorphism in the human coagulation factor V gene.
Human molecular genetics 1994;3(11):2085.
1994: Lane D A; Olds R J; Thein S L
Antithrombin III: summary of first database update.
Nucleic acids research 1994;22(17):3556-9.
1994: Chowdhury V; Lane D A; Mille B; Auberger K; Gandenberger-Bachem S; Pabinger I; Olds R J; Thein S L
Homozygous antithrombin deficiency: report of two new cases (99 Leu to Phe) associated with arterial and venous thrombosis.
Thrombosis and haemostasis 1994;72(2):198-202.
1994: Olds R J; Lane D A; Thein S L
The molecular genetics of antithrombin deficiency.
British journal of haematology 1994;87(2):221-6.
1994: Thorpe S J; Thein S L; Sampietro M; Craig J E; Mahon B; Huehns E R
Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis.
British journal of haematology 1994;87(1):125-32.
1994: Hall G W; Thein S
Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia.
Blood 1994;83(8):2031-7.
1994: Craig J E; Barnetson R A; Prior J; Raven J L; Thein S L
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.
Blood 1994;83(6):1673-82.
1994: Thein S L; Sampietro M; Rohde K; Rochette J; Weatherall D J; Lathrop G M; Demenais F
Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers.
American journal of human genetics 1994;54(2):214-28.
1994: Rochette J; Barnetson R; Kiger L; Kister J; Littlewood T J; Webster R; Poyart C; Thein S L
Association of a novel high oxygen affinity haemoglobin variant with delta beta thalassaemia.
British journal of haematology 1994;86(1):118-24.
1994: Olds R J; Lane D A; Chowdhury V; Sas G; Pabinger I; Auberger K; Thein S L
(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations.
Human mutation 1994;4(1):31-41.
1994: Olds R J; Lane D A; Mille B; Chowdhury V; Thein S L
Antithrombin: the principal inhibitor of thrombin.
Seminars in thrombosis and hemostasis 1994;20(4):353-72.
1993: Hall G W; Thein S L; Newland A C; Chisholm M; Traeger-Synodinos J; Kanavakis E; Kattamis C; Higgs D R
A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.
British journal of haematology 1993;85(3):546-52.
1993: Lane D A; Olds R J; Boisclair M; Chowdhury V; Thein S L; Cooper D N; Blajchman M; Perry D; Emmerich J; Aiach M
Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
Thrombosis and haemostasis 1993;70(2):361-9.
1993: Hall G W; Sampietro M; Barnetson R; Fitzgerald J; McCann S; Thein S L
Meiotic recombination in an Irish family with beta-thalassaemia.
Human genetics 1993;92(1):28-32.
1993: Thein S L; Wood W G; Wickramasinghe S N; Galvin M C
Beta-thalassemia unlinked to the beta-globin gene in an English family.
Blood 1993;82(3):961-7.
1993: Craig J E; Sheerin S M; Barnetson R; Thein S L
The molecular basis of HPFH in a British family identified by heteroduplex formation.
British journal of haematology 1993;84(1):106-10.
1993: Olds R J; Lane D A; Beresford C H; Abildgaard U; Hughes P M; Thein S L
A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection.
Genomics 1993;16(1):298-9.
1993: Olds R J; Lane D A; Chowdhury V; De Stefano V; Leone G; Thein S L
Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia.
Biochemistry 1993;32(16):4216-24.
1993: Craig J E; Barnetson R; Weatherall D J; Thein S L
Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction.
Blood 1993;81(3):861-3.
1992: Craig J E; Kelly S J; Barnetson R; Thein S L
Molecular characterization of a novel 10.3 kb deletion causing beta-thalassaemia with unusually high Hb A2.
British journal of haematology 1992;82(4):735-44.
1992: Hall G W; Barnetson R A; Thein S L
Beta thalassaemia in the indigenous British population.
British journal of haematology 1992;82(3):584-8.
1992: Olds R J; Lane D A; Boisclair M; Sas G; Bock S C; Thein S L
Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.
FEBS letters 1992;300(3):241-6.
1992: Thein S L
Dominant beta thalassaemia: molecular basis and pathophysiology.
British journal of haematology 1992;80(3):273-7.
1992: Olds R J; Lane D A; Caso R; Panico M; Morris H R; Sas G; Dawes J; Thein S L
Antithrombin III Budapest: a single amino acid substitution (429Pro to Leu) in a region highly conserved in the serpin family.
Blood 1992;79(5):1206-12.
1992: Trent R J; Thein S L
Detection of beta and delta globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 beta thalassemia.
Pathology 1992;24(1):15-8.
1991: Olds R J; Lane D A; Ireland H; Finazzi G; Barbui T; Abildgaard U; Girolami A; Thein S L
A common point mutation producing type 1A antithrombin III deficiency: AT129 CGA to TGA (Arg to Stop).
Thrombosis research 1991;64(5):621-5.
1991: Lane D A; Ireland H; Olds R J; Thein S L; Perry D J; Aiach M
Antithrombin III: a database of mutations.
Thrombosis and haemostasis 1991;66(6):657-61.
1991: Hall G W; Franklin I M; Sura T; Thein S L
A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype.
British journal of haematology 1991;79(2):342-4.
1991: Ireland H; Lane D A; Thompson E; Walker I D; Blench I; Morris H R; Freyssinet J M; Grunebaum L; Olds R; Thein S L
Antithrombin Glasgow II: alanine 382 to threonine mutation in the serpin P12 position, resulting in a substrate reaction with thrombin.
British journal of haematology 1991;79(1):70-4.
1991: Thein S L; Hinton J
A simple and rapid method of direct sequencing using Dynabeads.
British journal of haematology 1991;79(1):113-5.
1991: Olds R J; Sura T; Jackson B; Wonke B; Hoffbrand A V; Thein S L
A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families.
British journal of haematology 1991;78(3):430-6.
1991: Olds R J; Lane D A; Ireland H; Leone G; De Stefano V; Wiesel M L; Cazenave J P; Thein S L
Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.
British journal of haematology 1991;78(3):408-13.
1991: Caso R; Lane D A; Thompson E A; Olds R J; Thein S L; Panico M; Blench I; Morris H R; Freyssinet J M; Aiach M
Antithrombin Vicenza, Ala 384 to Pro (GCA to CCA) mutation, transforming the inhibitor into a substrate.
British journal of haematology 1991;77(1):87-92.
1990: Olds R J; Lane D A; Finazzi G; Barbui T; Thein S L
A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis.
Blood 1990;76(11):2182-6.
1990: Thein S L; Winichagoon P; Hesketh C; Best S; Fucharoen S; Wasi P; Weatherall D J
The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.
American journal of human genetics 1990;47(3):369-75.
1990: Thein S L; Hesketh C; Taylor P; Temperley I J; Hutchinson R M; Old J M; Wood W G; Clegg J B; Weatherall D J
Molecular basis for dominantly inherited inclusion body beta-thalassemia.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(10):3924-8.
1990: Caso R; Lane D A; Thompson E; Zangouras D; Panico M; Morris H; Olds R J; Thein S L; Girolami A
Antithrombin Padua. I: Impaired heparin binding caused by an Arg47 to his (CGT to CAT) substitution.
Thrombosis research 1990;58(2):185-90.
1990: Olds R J; Lane D A; Caso R; Girolami A; Thein S L
Antithrombin III Padua 2: a single base substitution in exon 2 detected with PCR and direct genomic sequencing.
Nucleic acids research 1990;18(7):1926.
1989: Olds R J; Lane D; Caso R; Tripodi A; Mannucci P M; Thein S L
Antithrombin III Milano 2: a single base substitution in the thrombin binding domain detected with PCR and direct genomic sequencing.
Nucleic acids research 1989;17(24):10511.
1989: Fey M F; Hesketh C; Wainscoat J S; Gendler S; Thein S L
Clonal allele loss in gastrointestinal cancers.
British journal of cancer 1989;59(5):750-4.
1989: Thein S L; Hesketh C; Brown J M; Anstey A V; Weatherall D J
Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA.
Blood 1989;73(4):924-30.
1989: Thein S L; Weatherall D J
A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex.
Progress in clinical and biological research 1989;316B():97-111.
1988: Fey M F; Wells R A; Wainscoat J S; Thein S L
Assessment of clonality in gastrointestinal cancer by DNA fingerprinting.
The Journal of clinical investigation 1988;82(5):1532-7.
1988: Thein S L; Lane D A
Use of synthetic oligonucleotides in the characterization of antithrombin III Northwick Park (393 CGT----TGT) and antithrombin III Glasgow (393 CGT----CAT).
Blood 1988;72(5):1817-21.
1988: Wells R A; Wonke B; Thein S L
Prediction of consanguinity using human DNA fingerprints.
Journal of medical genetics 1988;25(10):660-2.
1988: Fey M F; Thein S L
Somatic rearrangement of the tropomyosin-receptor-kinase (trk) oncogene is rare in gastrointestinal cancer.
British journal of cancer 1988;57(4):403-4.
1988: Thein S L; Oscier D G; Jeffreys A J; Hesketh C; Pilkington S; Summers C; Fitchett M; Wainscoat J S
Detection of chromosomal 7 loss in myelodysplasia using an extremely polymorphic DNA probe.
British journal of cancer 1988;57(2):131-4.
1987: Wainscoat J S; Thein S L; Weatherall D J
Thalassaemia intermedia.
Blood reviews 1987;1(4):273-9.
1987: Thein S L; Weatherall D J
Approach to the diagnosis of beta-thalassaemia by DNA analysis.
Acta haematologica 1987;78(2-3):159-67.
1987: Kulozik A E; Thein S L; Kar B C; Wainscoat J S; Serjeant G R; Weatherall D J
Raised Hb F levels in sickle cell disease are caused by a determinant linked to the beta globin gene cluster.
Progress in clinical and biological research 1987;251():427-39.

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