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Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

auteur

Panos Deloukas

Heribert Schunkert

Jeanette Erdmann

1965 - 2023

Benedikt Reiz

gepubliceerd in: BMC Cardiovascular Disorders

publicatiedatum: 2014-08-26

taal: Engels

belangrijk thema: familiaire hypercholesterolemie, hypercholesterolemie, hartinfarct

Cites articles 30

Date

Titel

Auteurs

2013-10-02

Familial hypercholesterolaemia: a pressing issue for European health care

Stephen E Humphries
2013-10-29

Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy

Luisa Mestroni, Gianfranco Sinagra, Pamela R Fain
2013-08-15

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

Stephen E Humphries, Luís Masana, G F Watts, Catherine Boileau, Maurizio Averna, Alberico L Catapano, Marja-Riitta Taskinen, Päivi Pajukanta, Albert Wiegman, Petri T Kovanen, Børge Nordestgaard, Henry N Ginsberg, Olivier S Descamps, Robert A. Hegele, Frederick J Raal, G. Kees Hovingh
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Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Philippa Talmud, Sonia Shah, Fredrik Karpe, Mika Kivimaki, Meena Kumari, Marta Futema, Nicholas Lench, John Whittaker, Stephen E Humphries, Aroon Hingorani, Claudia Langenberg
2013-11-10

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

Cor de Wit, Markus M Nöthen, Elisabeth Steinhagen-Thiessen, Muredach P Reilly, Alistair S Hall, Jeanette Erdmann, Thomas Meitinger, Nilesh Samani, Winfried März, Martina E. Zimmermann, Sekar Kathiresan, Heribert Schunkert, Shu-Chen Li, Doris Koesling, Stefan Schreiber
2012-12-02

Large-scale association analysis identifies new risk loci for coronary artery disease

Panos Deloukas, Tõnu Esko, Kati Kristiansson, Leo-Pekka Lyytikäinen, David Altshuler, Sarah E Hunt, Christa Meisinger, Abbas Dehghan, Vilmundur Gudnason, Kari Kuulasmaa, Hugh Christian Watkins, Unnur Thorsteinsdottir, Martina Müller-Nurasyid, Heribert Schunkert, Samuli Ripatti, Terho Lehtimäki, Eric Boerwinkle, Andres Metspalu, Inês Barroso, Johanna Kuusisto, Claudia Langenberg, Mika Kähönen, Jeanette Erdmann, Thomas Illig, Ann-Christine Syvänen, Kathleen Stirrups, Cordelia Langford, Agneta Siegbahn, Gudmar Thorleifsson, Ulf de Faire, Thomas Quertermous, Simone Claudi-Boehm, Anders Franco-Cereceda, David-Alexandre Trégouët, Ji-Young Lee, Seraya Maouche, Ci Song, Weang K Ho, Tsun-Po Yang, Dmitry Shungin, Bruna Gigante, Cristen J Willer, Dominique Gauguier, Rona J Strawbridge, Pierre A Zalloua, Karin Leander, Marcus E Kleber, Lasse Folkersen, Willem H. Ouwehand, Juha Sinisalo, Inke R König, Marco M. Ferrario, Muredach P Reilly, Alistair S Hall, Per Eriksson, Paul W Franks, Andreas Ziegler, Annette Peters, Philippe Amouyel, Markus Perola, Veikko Salomaa, Krista Fischer, Alison H Goodall, DIAGRAM Consortium, Lars Wallentin, Stavroula Kanoni, Mark McCarthy, Nilesh Samani, Göran Hallmans, Winfried März, Martina E. Zimmermann, Markku Laakso, Michael Boehnke, Erik Ingelsson, Nicholas J Wareham, Danish Saleheen, Sekar Kathiresan, Olle Melander, Anders Hamsten, Lars Lind, Stefan Gustafsson, Devin Absher, Wellcome Trust Case Control Consortium, Leif Groop, Ellen van der Schoot, Martin Farrall, Themistocles L Assimes, Jean-Baptiste Cazier, Åsa Johansson, Anuj Goel, Aki S Havulinna, Alexander S Doney, Pierre Fontanillas, Alexandre F. Stewart, L. Adrienne Cupples, Jean Ferrières, Nancy L Pedersen, Kári Stefánsson, Jarmo Virtamo, Christian Hengstenberg, G. Kees Hovingh, George Dedoussis, Stefan Schreiber, Rory Collins, Colin Palmer, David R. Cox, Wolfgang Koenig, Sarah Parish, Benjamin F. Voight, Norman Klopp, Kjell Nikus, Evelin Mihailov, Hyun-Mi Kang, Jaspal S Kooner, Elin Grundberg, Eric E Schadt, John Danesh, Daniel Rader, Christopher J O'Donnell, George Wells, Paolo Brambilla, Diana Rubin, Philipp S Wild, Hanneke V Basart, Bok-ghee Han, John G Peden, Svati H Shah, Patrick Diemert, Klaus Stark, Peter S Braund, Frank Kee, Dominique Arveiler, François Cambien, Hilma Holm, Christina Willenborg, Lindsay L Waite, Marja-Liisa Lokki, Carlos Iribarren, Maria Dimitriou, Genovefa Kolovou, Niclas Eriksson, Asif Rasheed, Jemma C Hopewell, Manjinder S Sandhu, Gudmundur Thorgeirsson, Per Olof Lundmark, CARDIOGENICS Consortium, Stanley L Hazen, John F Thompson, Suzanne Rafelt, Reijo Laaksonen, Mohan U Sivananthan, Sian-Tsung Tan, Natalie R van Zuydam, Thorsten Kessler, Tomi Pastinen, Emmi Tikkanen, Bernhard Otto Boehm, Andrew D Morris, John Campbell Chambers
2012-10

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

Marta Futema, Vincent Plagnol, Stephen E Humphries
2012-09-01

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

Nicholas Lench, Stephen E Humphries, Christine Orengo, Corin Yeats
2012-04-01

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

Adrian E Platts
2012-06-20

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

Jose Bras, Rita Guerreiro, John Hardy
2012-05

Disease gene identification strategies for exome sequencing

Christian Gilissen, Joris A Veltman, Alexander Hoischen, Han Brunner
2012-08-14

Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication.

Marianne Benn, Anne Tybjærg-Hansen, Børge Nordestgaard, G F Watts
2011-01-27

Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

John J. P. Kastelein
2011-10-08

Accelerated subclinical coronary atherosclerosis in patients with familial hypercholesterolemia.

Eric Sijbrands, Koen Nieman, Pim J de Feyter
2011-04-12

Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

William C Cromwell, Christie M Ballantyne, Peter P Toth
2011-12-01

[ESC/EAS Guidelines for the management of dyslipidaemias]

Alberico L Catapano, Marja-Riitta Taskinen, Julian Halcox, Richard Hobbs, Robert F. Storey
2010-09

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
2009-01-23

Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia.

Nadeem Qureshi
2007-04-01

Mechanisms of disease: genetic causes of familial hypercholesterolemia
2004-09-01

Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review
2004-02-01

Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program
2002-12-17

Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report
2001-01-20

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
1999-01-01

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

Ola Didrik Saugstad
1997-08-01

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

A V Peeters, M J Kotze
1995-04-01

Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing
1994-12

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis
1992

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

Joseph Goldstein
1988-03-01

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions

Joseph Goldstein
1973-07-01

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

Artike - wd:Q34569742

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