Literature DB >> 19843101

Mutation screening in patients for familial hypercholesterolaemia (ADH).

A Taylor, K Patel, J Tsedeke, S E Humphries, G Norbury.   

Abstract

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Year:  2009        PMID： 19843101     DOI： 10.1111/j.1399-0004.2009.01279.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Authors:  Marta Futema; Vincent Plagnol; Ros A Whittall; H Andrew W Neil; Steve Eric Humphries
Journal:  J Med Genet       Date:  2012-10       Impact factor: 6.318

Review 2.  Utility of genetic determinants of lipids and cardiovascular events in assessing risk.

Authors:  Michael V Holmes; Seamus Harrison; Philippa J Talmud; Aroon D Hingorani; Steve E Humphries
Journal:  Nat Rev Cardiol       Date:  2011-02-15       Impact factor: 32.419

3.  Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Authors:  Marta Futema; Vincent Plagnol; KaWah Li; Ros A Whittall; H Andrew W Neil; Mary Seed; Stefano Bertolini; Sebastiano Calandra; Olivier S Descamps; Colin A Graham; Robert A Hegele; Fredrik Karpe; Ronen Durst; Eran Leitersdorf; Nicholas Lench; Devaki R Nair; Handrean Soran; Frank M Van Bockxmeer; Steve E Humphries
Journal:  J Med Genet       Date:  2014-07-01       Impact factor: 6.318

4.  Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Authors:  Hao Wang; Hang Yang; Zhaohui Liu; Kai Cui; Yinhui Zhang; Yujing Zhang; Kun Zhao; Kunlun Yin; Wenke Li; Zhou Zhou
Journal:  J Atheroscler Thromb       Date:  2020-08-06       Impact factor: 4.928
  4 in total

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