Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
Talmud, Philippa J, Prof, Shah, Sonia, MSc, Whittall, Ros, MSc, Futema, Marta, BSc, Howard, Philip, BSc, Cooper, Jackie A, MSc, Harrison, Seamus C, MRCS, Li, KaWah, MSc, Drenos, Fotios, PhD, Karpe, Frederik, PhD, Neil, H Andrew W, Prof, Descamps, Olivier S, PhD, Langenberg, Claudia, PhD, Lench, Nicholas, PhD, Kivimaki, Mika, Prof, Whittaker, John, Prof, Hingorani, Aroon D, Prof, Kumari, Meena, PhD, Humphries, Steve E, Prof
Published in The Lancet (British edition) (13.04.2013)
Published in The Lancet (British edition) (13.04.2013)
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Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries
Futema, Marta, Shah, Sonia, Cooper, Jackie A, Li, KaWah, Whittall, Ros A, Sharifi, Mahtab, Goldberg, Olivia, Drogari, Euridiki, Mollaki, Vasiliki, Wiegman, Albert, Defesche, Joep, D'Agostino, Maria N, D'Angelo, Antonietta, Rubba, Paolo, Fortunato, Giuliana, Waluś-Miarka, Małgorzata, Hegele, Robert A, Aderayo Bamimore, Mary, Durst, Ronen, Leitersdorf, Eran, Mulder, Monique T, Roeters van Lennep, Jeanine E, Sijbrands, Eric J G, Whittaker, John C, Talmud, Philippa J, Humphries, Steve E
Published in Clinical chemistry (Baltimore, Md.) (01.01.2015)
Published in Clinical chemistry (Baltimore, Md.) (01.01.2015)
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Journal Article
Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
Usifo, Ebele, Leigh, Sarah E. A., Whittall, Ros A., Lench, Nicholas, Taylor, Alison, Yeats, Corin, Orengo, Christine A., Martin, Andrew C. R., Celli, Jacopo, Humphries, Steve E.
Published in Annals of human genetics (01.09.2012)
Published in Annals of human genetics (01.09.2012)
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Journal Article
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
Futema, Marta, Plagnol, Vincent, Li, KaWah, Whittall, Ros A, Neil, H Andrew W, Seed, Mary, Bertolini, Stefano, Calandra, Sebastiano, Descamps, Olivier S, Graham, Colin A, Hegele, Robert A, Karpe, Fredrik, Durst, Ronen, Leitersdorf, Eran, Lench, Nicholas, Nair, Devaki R, Soran, Handrean, Van Bockxmeer, Frank M, Humphries, Steve E
Published in Journal of medical genetics (01.08.2014)
Published in Journal of medical genetics (01.08.2014)
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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic
Futema, Marta, Whittall, Ros A, Kiley, Amy, Steel, Louisa K, Cooper, Jackie A, Badmus, Ebele, Leigh, Sarah E, Karpe, Fredrik, Neil, H. Andrew W, Humphries, Steve E
Published in Atherosclerosis (01.07.2013)
Published in Atherosclerosis (01.07.2013)
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Journal Article
The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men
SCARTEZINI, Marileia, HUBBART, Christina, WHITTALL, Ros A, COOPER, Jackie A, NEIL, Andrew H. W, HUMPHRIES, Steve E
Published in Clinical science (1979) (01.12.2007)
Published in Clinical science (1979) (01.12.2007)
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Journal Article
The genetic spectrum of familial hypercholesterolemia in Pakistan
Ahmed, Waqas, Whittall, Ros, Riaz, Moeen, Ajmal, Muhammad, Sadeque, Ahmed, Ayub, Humaira, Qamar, Raheel, Humphries, Steve E.
Published in Clinica chimica acta (05.06.2013)
Published in Clinica chimica acta (05.06.2013)
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Journal Article
R643G polymorphism in PECAM-1 influences transendothelial migration of monocytes and is associated with progression of CHD and CHD events
Elrayess, Mohamed A., Webb, Karen E., Bellingan, Geoff J., Whittall, Ros A., Kabir, Jahangir, Hawe, Emma, Syvänne, Mikko, Taskinen, Marja-Riitta, Frick, M. Heikki, Nieminen, Markku S., Kesäniemi, Y. Antero, Pasternack, Amos, Miller, George J., Humphries, Steve E.
Published in Atherosclerosis (01.11.2004)
Published in Atherosclerosis (01.11.2004)
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Journal Article
The molecular basis of familial hypercholesterolaemia in Turkish patients
Sözen, M. Mert, Whittall, Ros, Öner, Cihan, Tokatlı, Ayşegül, Kalkanoğlu, H. Serap, Dursun, Ali, Coşkun, Turgay, Öner, Reyhan, Humphries, Steve E.
Published in Atherosclerosis (01.05.2005)
Published in Atherosclerosis (01.05.2005)
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Journal Article
The A370T Variant (StuI Polymorphism) in the LDL Receptor Gene is not Associated with Plasma Lipid Levels or Cardiovascular Risk in UK Men
Vieira, José Ricardo S., Whittall, Ros A., Cooper, Jackie A., Miller, George J., Humphries, Steve E.
Published in Annals of human genetics (01.11.2006)
Published in Annals of human genetics (01.11.2006)
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Journal Article
Three Novel Mutations in the Apolipoprotein E Gene in a Sample of Individuals with Type 2 Diabetes Mellitus
Stephens, Jeffrey W, Sozen, M. Mert, Whittall, Ros A, Caslake, Muriel J, Bedford, Dorothy, Acharya, Jayshree, Hurel, Steven J, Humphries, Steve E
Published in Clinical chemistry (Baltimore, Md.) (01.01.2005)
Published in Clinical chemistry (Baltimore, Md.) (01.01.2005)
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Journal Article
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland
Sharifi, Mahtab, Walus-Miarka, Małgorzata, Idzior-Waluś, Barbara, Malecki, Maciej T, Sanak, Marek, Whittall, Ros, Li, Ka Wah, Futema, Marta, Humphries, Steve E
Published in Metabolism, clinical and experimental (01.03.2016)
Published in Metabolism, clinical and experimental (01.03.2016)
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Journal Article
Molecular genetics of familial hypercholesterolemia in Israel–revisited
Durst, Ronen, Ibe, Uche Ken, Shpitzen, Shoshi, Schurr, Daniel, Eliav, Osnat, Futema, Marta, Whittall, Ros, Szalat, Auryan, Meiner, Vardiella, Knobler, Hilla, Gavish, Dov, Henkin, Yaakov, Ellis, Avishay, Rubinstein, Ardon, Harats, Dror, Bitzur, Rafael, Hershkovitz, Bruno, Humphries, Steve E, Leitersdorf, Eran
Published in Atherosclerosis (01.02.2017)
Published in Atherosclerosis (01.02.2017)
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Journal Article
Abstract 18262: Molecular Genetics of Familial Hypercholesterolemia in Israel Revisited
Durst, Ronen, Ibe, Uche Ken, Meiner, Vardiella Meiner, Shpitzen, Shoshi, Schurr, Dani, Eliav, Osnat, Futema, Marta Futema, Whittall, Ros, Humphries, Steve E, Leitersdorf, Eran
Published in Circulation (New York, N.Y.) (25.11.2014)
Published in Circulation (New York, N.Y.) (25.11.2014)
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Journal Article
Refinement of variant selection for the LDL-C genetic risk score in the diagnosis of the polygenic form of clinical Familial Hypercholesterolemia and replication in samples from six countries
Futema, Marta, Shah, Sonia, Cooper, Jackie A, Li, KaWah, Whittall, Ros A, Sharifi, Mahtab, Goldberg, Olivia, Drogari, Euridiki, Mollaki, Vasiliki, Wiegman, Albert, Defesche, Joep, D’Agostino, Maria N, D’Angelo, Antonietta, Rubba, Paolo, Fortunato, Giuliana, Walus-Miarka, Małgorzata, Hegele, Robert A, Bamimore, Mary Aderayo, Durst, Ronen, Leitersdorf, Eran, Mulder, Monique T, Roeters van Lennep, Janine E, Sijbrands, Eric J G, Whittaker, John C, Talmud, Philippa J, Humphries, Steve E
Published in Clinical chemistry (Baltimore, Md.) (20.11.2014)
Published in Clinical chemistry (Baltimore, Md.) (20.11.2014)
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Journal Article
Mutation detection in Croatian patients with Familial Hypercholesterolemia
Pećin, Ivan, Whittall, Ros, Futema, Marta, Sertić, Jadranka, Reiner, Željko, Leigh, Sarah E. A., Humphries, Steve E.
Published in Annals of human genetics (01.01.2013)
Published in Annals of human genetics (01.01.2013)
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