Literature DB >> 24253857

Clinical utility gene card for: hyperlipoproteinemia, TYPE II.

Ursula Kassner1, Marion Wühle-Demuth1, Isabelle Missala1, Steve E Humphries2, Elisabeth Steinhagen-Thiessen3, Ilja Demuth4.   

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Year:  2013        PMID： 24253857      PMCID： PMC4060121          DOI： 10.1038/ejhg.2013.271

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  23 in total

1.  Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

Authors:  Roeland Huijgen; Iris Kindt; Sigrid W Fouchier; Joep C Defesche; Barbara A Hutten; John J P Kastelein; Maud N Vissers
Journal:  Hum Mutat       Date:  2010-06       Impact factor: 4.878

2.  Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing.

Authors:  Brian Starr; S Gaye Hadfield; Barbara A Hutten; Peter J Lansberg; Trond P Leren; Dorte Damgaard; H Andrew W Neil; Steve E Humphries
Journal:  Clin Chem Lab Med       Date:  2008       Impact factor: 3.694

3.  Familial hypercholesterolaemia: summary of NICE guidance.

Authors:  Anthony S Wierzbicki; Steve E Humphries; Rubin Minhas
Journal:  BMJ       Date:  2008-08-27

Review 4.  Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.

Authors:  Khemanganee E Liyanage; John R Burnett; Amanda J Hooper; Frank M van Bockxmeer
Journal:  Crit Rev Clin Lab Sci       Date:  2011 Jan-Feb       Impact factor: 6.250

5.  ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS).

Authors:  Zeljko Reiner; Alberico L Catapano; Guy De Backer; Ian Graham; Marja-Riitta Taskinen; Olov Wiklund; Stefan Agewall; Eduardo Alegria; M John Chapman; Paul Durrington; Serap Erdine; Julian Halcox; Richard Hobbs; John Kjekshus; Pasquale Perrone Filardi; Gabriele Riccardi; Robert F Storey; David Wood
Journal:  Eur Heart J       Date:  2011-06-28       Impact factor: 29.983

Review 6.  Dietary treatment for familial hypercholesterolaemia.

Authors:  Nusrat Shafiq; Meenu Singh; Sharonjeet Kaur; Pratibha Khosla; Samir Malhotra
Journal:  Cochrane Database Syst Rev       Date:  2010-01-20

Review 7.  Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Authors:  Marianne Abifadel; Jean-Pierre Rabès; Martine Devillers; Arnold Munnich; Danièle Erlich; Claudine Junien; Mathilde Varret; Catherine Boileau
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

8.  Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials.

Authors:  C Baigent; L Blackwell; J Emberson; L E Holland; C Reith; N Bhala; R Peto; E H Barnes; A Keech; J Simes; R Collins
Journal:  Lancet       Date:  2010-11-08       Impact factor: 79.321

9.  Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

Authors:  A Taylor; D Wang; K Patel; R Whittall; G Wood; M Farrer; R D G Neely; S Fairgrieve; D Nair; M Barbir; J L Jones; S Egan; R Everdale; Y Lolin; E Hughes; J A Cooper; S G Hadfield; G Norbury; S E Humphries
Journal:  Clin Genet       Date:  2010-03-13       Impact factor: 4.438

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

Authors:  Ebele Usifo; Sarah E A Leigh; Ros A Whittall; Nicholas Lench; Alison Taylor; Corin Yeats; Christine A Orengo; Andrew C R Martin; Jacopo Celli; Steve E Humphries
Journal:  Ann Hum Genet       Date:  2012-09       Impact factor: 1.670
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  2 in total

1.  Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?

Authors:  Lidewij Henneman; Colleen M McBride; Martina C Cornel; Debra Duquette; Nadeem Qureshi
Journal:  Healthcare (Basel)       Date:  2015-10-26

2.  Predictors of Family Recruitment in a Program of Genetic Cascade Screening for Familial Hypercholesterolemia.

Authors:  Maria Cristina de Oliveira Izar; Francisco Antonio Helfenstein Fonseca
Journal:  Arq Bras Cardiol       Date:  2018-10       Impact factor: 2.000
  2 in total

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