Works matching Hypercholesterolemia and genetics

Results: 581

Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Published in:

Genes, 2023, v. 14, n. 3, p. 721, doi. 10.3390/genes14030721

By:

Abdul Murad, Nor Azian;
Mohammad Noor, Yusuf;
Mohd. Rani, Zam Zureena;
Sulaiman, Siti Aishah;
Chow, Yock Ping;
Abdullah, Noraidatulakma;
Ahmad, Norfazilah;
Ismail, Norliza;
Abdul Jalal, Nazihah;
Kamaruddin, Mohd. Arman;
Saperi, Amalia Afzan;
Jamal, Rahman

Publication type:

Article

Genetic Variants, Bioactive Compounds, and PCSK9 Inhibitors in Hyper-LDL-Cholesterolemia: A GWAS and In Silico Study on Cardiovascular Disease Risk.

Published in:

Nutrients, 2025, v. 17, n. 9, p. 1411, doi. 10.3390/nu17091411

By:

Liu, Meiling;
Zhou, Junyu;
Park, Sunmin

Publication type:

Article

The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

Published in:

Application of Clinical Genetics, 2010, v. 3, p. 53

By:

De Castro-Orós, Isabel;
Pocoví, Miguel;
Civeira, Fernando

Publication type:

Article

The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study.

Published in:

Medicina (1010660X), 2024, v. 60, n. 10, p. 1602, doi. 10.3390/medicina60101602

By:

Constantin, Andreea Teodora;
Delia, Corina;
Roșu, Lucia Maria;
Roșca, Ioana;
Streață, Ioana;
Riza, Anca-Lelia;
Gherghina, Ioan

Publication type:

Article

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 24, p. 13466, doi. 10.3390/ijms252413466

By:

Atava, Ivanna;
Briviba, Monta;
Nesterovics, Georgijs;
Saripo, Vita;
Gilis, Dainus;
Meiere, Ruta;
Terauda, Elizabete;
Skudrina, Gunda;
Klovins, Janis;
Latkovskis, Gustavs

Publication type:

Article

Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL‐C and LPA genetic scores.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 334, doi. 10.1111/cge.14387

By:

Schwaninger, Gunda;
Forer, Lukas;
Ebenbichler, Christoph;
Dieplinger, Hans;
Kronenberg, Florian;
Zschocke, Johannes;
Witsch‐Baumgartner, Martina

Publication type:

Article

Familial hypercholesterolaemia: a genetic condition with associated cardiovascular risk.

Published in:

British Journal of Cardiac Nursing, 2024, v. 19, n. 3, p. 1, doi. 10.12968/bjca.2023.0024

By:

Neves, Emma;
Bueser, Tootie;
Frampton, Katie;
Lee, Emma;
Studart, Dominic;
Tobin, Liam;
Wilson, Elizabeth

Publication type:

Article

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Published in:

Scientific Reports, 2016, p. 36823, doi. 10.1038/srep36823

By:

Jiang, Long;
Wu, Wen-Feng;
Sun, Li-Yuan;
Chen, Pan-Pan;
Wang, Wei;
Benito-Vicente, Asier;
Zhang, Fan;
Pan, Xiao-Dong;
Cui, Wei;
Yang, Shi-Wei;
Zhou, Yu-Jie;
Martin, Cesar;
Wang, Lu-Ya

Publication type:

Article

Patients' Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment.

Published in:

International Journal of Behavioral Medicine, 2015, v. 22, n. 1, p. 92, doi. 10.1007/s12529-014-9402-x

By:

Hardcastle, Sarah;
Legge, Ellen;
Laundy, Chris;
Egan, Sarah;
French, Rosemary;
Watts, Gerald;
Hagger, Martin

Publication type:

Article

Editorial: Genetics of Familial Hypercholesterolemia: New Insight.

Published in:

2021

By:

Vuorio, Alpo;
Ramaswami, Uma;
Holven, Kirsten B.

Publication type:

Editorial

Une histoire familiale d'hypercholestérolémie – le rôle de la génétique.

Published in:

Praxis (16618157), 2023, v. 112, n. 4, p. 245, doi. 10.1024/1661-8157/a004013

By:

Podmore, Clara;
Deillon, Eva;
Nanchen, David

Publication type:

Article

Association of the host genetic factors, hypercholesterolemia and diabetes with mild influenza in an Iranian population.

Published in:

Virology Journal, 2021, v. 18, n. 1, p. 1, doi. 10.1186/s12985-021-01486-3

By:

Mehrbod, Parvaneh;
Eybpoosh, Sana;
Farahmand, Behrokh;
Fotouhi, Fatemeh;
Khanzadeh Alishahi, Majid

Publication type:

Article

Population Studies in Northern Sweden 18. Geographical Covariation between Hypercholesterolemia and Finnish Genetic Influence.

Published in:

Human Heredity, 1993, v. 43, n. 3, p. 147, doi. 10.1159/000154170

By:

Nylander, P.-O.;
Asplund, K.;
Beckman, L.;
Stegmayr, B.;
Johansson, I.

Publication type:

Article

Genetic testing in the context of familial hypercholesterolaemia: organisational and ethical aspects.

Published in:

European Journal of Public Health, 2021, v. 31, p. iii466

By:

Strohmaier, C.;
Walter, M.

Publication type:

Article

ГЕНЕТИЧНА ХЕТЕРОГЕННОСТ НА ФАМИЛНАТА ХИПЕРХОЛЕСТЕРОЛЕМИЯ.

Published in:

Medical Review - Cardiovascular Diseases, 2020, v. 51, n. 1, p. 3

By:

ГАНЕВ, М.;
ХАДЖИДЕКОВА, С.

Publication type:

Article

Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk.

Published in:

European Journal of Preventive Cardiology, 2019, v. 26, n. 12, p. 1262, doi. 10.1177/2047487319829746

By:

Lee, Seohyuk;
Akioyamen, Leo E;
Aljenedil, Sumayah;
Rivière, Jean-Baptiste;
Ruel, Isabelle;
Genest, Jacques

Publication type:

Article

The genetics and screening of familial hypercholesterolaemia.

Published in:

Journal of Biomedical Science, 2016, v. 23, p. 1, doi. 10.1186/s12929-016-0256-1

By:

Henderson, Raymond;
O'Kane, Maurice;
McGilligan, Victoria;
Watterson, Steven

Publication type:

Article

Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes.

Published in:

Genes, 2025, v. 16, n. 1, p. 84, doi. 10.3390/genes16010084

By:

Hakim, Aaron;
Connally, Noah J.;
Schnitzler, Gavin R.;
Cho, Michael H.;
Jiang, Z. Gordon;
Sunyaev, Shamil R.;
Gupta, Rajat M.

Publication type:

Article

Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.

Published in:

Genes, 2021, v. 12, n. 8, p. 1168, doi. 10.3390/genes12081168

By:

Zuurbier, Linda C.;
Defesche, Joep C.;
Wiegman, Albert

Publication type:

Article

High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease.

Published in:

Application of Clinical Genetics, 2019, v. 12, p. 71, doi. 10.2147/TACG.S202942

By:

Pirazzi, Carlo;
Håkansson, Lina;
Gustafsson, Carola;
Omerovic, Elmir;
Wiklund, Olov;
Mancina, Rosellina Margherita

Publication type:

Article

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 4, p. 244, doi. 10.1038/sj.ejhg.5200633

By:

Heath, Karen E;
Humphries, Steve E;
Middleton-Price, Helen;
Boxer, Maureen

Publication type:

Article

Genetic Diagnosis of Familial Hypercholesterolemia in a South European Outbreed Population: Influence of LowDensity Lipoprotein (LDL) Receptor Gene Mutations on Treatment Response to Simvastatin in Total, LDL, and High-Density Lipoprotein Cholestero.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 10, p. 4926, doi. 10.1210/jcem.86.10.7899

By:

Chaves, Felipe J.;
Real, José T.;
García-García, Ana B.;
Civera, Miguel;
Armengod, María E.;
Ascaso, Juan F.;
Carmena, Rafael

Publication type:

Article

Clinical and Genetic Characteristics of Familial Hypercholesterolemia at Sultan Qaboos University Hospital in Oman.

Published in:

Oman Medical Journal, 2020, v. 35, n. 3, p. 26, doi. 10.5001/omj.2020.59

By:

Al-Waili, Khalid;
Al-Rasadi, Khalid;
Zadjali, Fahad;
Al-Hashmi, Khamis;
Al-Mukhaini, Suad;
Al-Kindi, Mohammed;
Al-Sabti, Hilal;
Al-Hinai, Ali Talib;
Farhan, Hatem;
Al-Zakwani, Ibrahim

Publication type:

Article

Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing.

Published in:

PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0126706

By:

Han, Soo Min;
Hwang, Byungjin;
Park, Tae-gun;
Kim, Do-Il;
Rhee, Moo-Yong;
Lee, Byoung-Kwon;
Ahn, Young Keun;
Cho, Byung Ryul;
Woo, Jeongtaek;
Hur, Seung-Ho;
Jeong, Jin-Ok;
Park, Sungha;
Jang, Yangsoo;
Lee, Min Goo;
Bang, Duhee;
Lee, Ji Hyun;
Lee, Sang-Hak

Publication type:

Article

Individuals’ experiences of, and responses to, a negative genetic test result for familial hypercholesterolaemia.

Published in:

Journal of Health Psychology, 2013, v. 18, n. 3, p. 339, doi. 10.1177/1359105312443403

By:

Hilgart, Jennifer;
Mercer, Jenny;
Thirlaway, Kathryn

Publication type:

Article

The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.

Published in:

Lipids in Health & Disease, 2020, v. 19, n. 1, p. 1, doi. 10.1186/s12944-020-01252-4

By:

Hori, Mika;
Takahashi, Atsushi;
Son, Cheol;
Ogura, Masatsune;
Harada-Shiba, Mariko

Publication type:

Article

Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Published in:

Lipids in Health & Disease, 2018, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12944-018-0900-8

By:

Sun, Di;
Zhou, Bing-Yang;
Li, Sha;
Sun, Ning-Ling;
Hua, Qi;
Wu, Shu-Lin;
Cao, Yun-Shan;
Guo, Yuan-Lin;
Wu, Na-Qiong;
Zhu, Cheng-Gang;
Gao, Ying;
Cui, Chuan-Jue;
Liu, Geng;
Li, Jian-Jun

Publication type:

Article

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Published in:

2022

By:

Gandhi, Geethanjali Devadoss;
Aamer, Waleed;
Krishnamoorthy, Navaneethakrishnan;
Syed, Najeeb;
Aliyev, Elbay;
Al-Maraghi, Aljazi;
Kohailan, Muhammad;
Alenbawi, Jamil;
Elanbari, Mohammed;
Mifsud, Borbala;
Mokrab, Younes;
Khalil, Charbel Abi;
Fakhro, Khalid A.;
Qatar Genome Program Research Consortium (QGPRC)

Publication type:

journal article

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.

Published in:

2017

By:

Knowles, Joshua W.;
Rader, Daniel J.;
Khoury, Muin J.

Publication type:

journal article

Genetic backgrounds and diagnosis of familial hypercholesterolemia.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 3, doi. 10.1111/cge.14435

By:

Rogozik, Joanna;
Główczyńska, Renata;
Grabowski, Marcin

Publication type:

Article

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 529, doi. 10.1111/cge.14036

By:

Di Taranto, Maria Donata;
Giacobbe, Carola;
Palma, Daniela;
Iannuzzo, Gabriella;
Gentile, Marco;
Calcaterra, Ilenia;
Guardamagna, Ornella;
Auricchio, Renata;
Di Minno, Matteo Nicola Dario;
Fortunato, Giuliana

Publication type:

Article

Association between non-cholesterol sterol concentrations and Achilles tendon thickness in patients with genetic familial hypercholesterolemia.

Published in:

2018

By:

Baila-Rueda, Lucía;
Lamiquiz-Moneo, Itziar;
Jarauta, Estíbaliz;
Mateo-Gallego, Rocío;
Perez-Calahorra, Sofía;
Marco-Benedí, Victoria;
Bea, Ana M.;
Cenarro, Ana;
Civeira, Fernando

Publication type:

journal article

A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening.

Published in:

Journal of Applied Laboratory Medicine, 2024, v. 9, n. 6, p. 871, doi. 10.1093/jalm/jfae089

By:

Imran, Mohamed;
Mehanathan, Arvinden Pabithadevi Balaiah;
Rajagopal, Raskin Erusan

Publication type:

Article

Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.

Published in:

Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.809256

By:

Rimbert, Antoine;
Daggag, Hinda;
Lansberg, Peter;
Buckley, Adam;
Viel, Martijn;
Kanninga, Roan;
Johansson, Lennart;
Dullaart, Robin P. F.;
Sinke, Richard;
Al Tikriti, Alia;
Kuivenhoven, Jan Albert;
Barakat, Maha Taysir

Publication type:

Article

Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.

Published in:

Scottish Medical Journal, 2012, v. 57, n. 3, p. 148, doi. 10.1258/smj.2012.012020

By:

Ho, C K M;
Stirling, D;
Hannant, W;
Walker, S W

Publication type:

Article

Genetic basis of hypercholesterolemia in adults.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00190-z

By:

Saadatagah, Seyedmohammad;
Jose, Merin;
Dikilitas, Ozan;
Alhabi, Lubna;
Miller, Alexandra A.;
Fan, Xiao;
Olson, Janet E.;
Kochan, David C.;
Safarova, Maya;
Kullo, Iftikhar J.

Publication type:

Article

Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.520

By:

Chan, Melody Lok‐Yi;
Cheung, Ching‐Lung;
Lee, Alan Chun‐Hong;
Yeung, Chun‐Yip;
Siu, Chung‐Wah;
Leung, Jenny Yin‐Yan;
Pang, Ho‐Kwong;
Tan, Kathryn Choon‐Beng

Publication type:

Article

Ailevi hiperkolesterolemi: Epidemiyoloji, genetik, tanı ve tarama.

Published in:

Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2014, v. 42, n. Supp2, p. 1

By:

Sinan, Ümit Yaşar;
Sansoy, Vedat

Publication type:

Article

Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 722, doi. 10.1038/ejhg.2012.5

By:

Huijgen, Roeland;
Homsma, Sietske JM;
Hutten, Barbara A;
Kindt, Iris;
Vissers, Maud N;
Kastelein, John JP;
van Rijckevorsel, Jan LA

Publication type:

Article

Correction to: "The Lipoprotein Profile Evaluated by 1H-NMR Improves the Performance of Genetic Testing in Familial Hypercholesterolemia".

Published in:: Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 1, p. e200, doi. 10.1210/clinem/dgae765
Publication type:: Article

The Lipoprotein Profile Evaluated by 1H-NMR Improves the Performance of Genetic Testing in Familial Hypercholesterolemia.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 11, p. e2090, doi. 10.1210/clinem/dgae037

By:

Daiana, Ibarretxe;
Dídac, Llop;
Cèlia, Rodríguez-Borjabad;
Natalia, Andreychuk;
Núria, Plana;
Roberto, Scicali;
Ana, González-Lleó;
Núria, Amigó;
Josefa, Girona;
Lluís, Masana

Publication type:

Article

Achilles tendon ultrasonography in familial hypercholesterolemia: A sub‐study of the LIpid transPort disorders Italian GEnetic Network (LIPIGEN).

Published in:

Journal of Internal Medicine, 2022, v. 291, n. 5, p. 702, doi. 10.1111/joim.13421

By:

Baragetti, Andrea;
Casula, Manuela;
Scarinzi, Paolo;
Ristè, Federica;
Scicali, Roberto;
Biolo, Marta;
Lugari, Simonetta;
Dall'Agata, Marco;
Gazzotti, Marta;
Olmastroni, Elena;
Alieva, Asiiat S.;
Nascimbeni, Fabio

Publication type:

Article

Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome.

Published in:

2018

By:

Benedek, P.;
Eriksson, M.;
Duvefelt, K.;
Freyschuss, A.;
Frick, M.;
Lundman, P.;
Nylund, L.;
Szummer, K.

Publication type:

journal article

Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia.

Published in:

European Journal of Clinical Investigation, 2003, v. 33, n. 1, p. 1, doi. 10.1046/j.1365-2362.2003.01094.x

By:

Descamps, O. S.;
Gilbeau, J.-P.;
Luwaert, R.;
Heller, F. R.

Publication type:

Article

New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.

Published in:

2016

By:

Hannoush, Zeina C;
Puerta, Herminia;
Bauer, Mislen S;
Goldberg, Ronald B

Publication type:

journal article

Genetic testing of familial hypercholesterolemia in a real clinical setting.

Published in:

Wiener Klinische Wochenschrift, 2016, v. 128, n. 23/24, p. 916, doi. 10.1007/s00508-016-1053-2

By:

Vohnout, Branislav;
Gabcova, Dominika;
Huckova, Miroslava;
Klimes, Iwar;
Gasperikova, Daniela;
Raslova, Katarina

Publication type:

Article

Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.

Published in:

Molecular Biology Reports, 2020, v. 47, n. 12, p. 9279, doi. 10.1007/s11033-020-06014-0

By:

de Paiva Silvino, Júnea Paolucci;
Jannes, Cinthia Elim;
Tada, Mauricio Teruo;
Lima, Isabella Ramos;
Silva, Iêda de Fátima Oliveira;
Pereira, Alexandre Costa;
Gomes, Karina Braga

Publication type:

Article

A Novel Screening Approach for Familial Hypercholesterolemia: A Genetic Study on Patients Detected Using Preexisting Centralized Analytics.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 8, p. 2780, doi. 10.3390/jcm14082780

By:

Sánchez-Prieto, Joaquín;
Sabatel, Fernando;
Moreno, Fátima;
Arias, Miguel A.;
Rodríguez-Padial, Luis

Publication type:

Article

Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5160, doi. 10.3390/jcm12155160

By:

Latkovskis, Gustavs;
Rescenko-Krums, Raimonds;
Nesterovics, Georgijs;
Briviba, Monta;
Saripo, Vita;
Gilis, Dainus;
Terauda, Elizabete;
Meiere, Ruta;
Skudrina, Gunda;
Erglis, Andrejs;
Chora, Joana Rita;
Bourbon, Mafalda;
Klovins, Janis

Publication type:

Article

Opportunistic Genetic Screening for Familial Hypercholesterolemia in Heart Transplant Patients.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 3, p. 1233, doi. 10.3390/jcm12031233

By:

Salgado, María;
Díaz-Molina, Beatriz;
Cuesta-Llavona, Elías;
Aparicio, Andrea;
Fernández, María;
Alonso, Vanesa;
Avanzas, Pablo;
Pascual, Isaac;
Neuhalfen, David;
Coto, Eliecer;
Gómez, Juan;
Lorca, Rebeca

Publication type:

Article