Works matching Hypercholesterolemia and genetics

Results: 576

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

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

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

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

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

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

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

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

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

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

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

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

Editorial: Genetics of Familial Hypercholesterolemia: New Insight.

Published in:

2021

By:

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

Publication type:

Editorial

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

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 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

Parent-child genetic testing for familial hypercholesterolaemia in an Australian context.

Published in:

2018

By:

Pang, Jing;
Bates, Timothy R.;
Hooper, Amanda J.;
Bell, Damon A.;
Burnett, John R.;
Watts, Gerald F.;
Martin, Andrew C.;
Norman, Richard

Publication type:

journal 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

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

Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling.

Published in:

Journal of Personalized Medicine, 2024, v. 14, n. 8, p. 841, doi. 10.3390/jpm14080841

By:

Morgan, Kelly M.;
Campbell-Salome, Gemme;
Walters, Nicole L.;
Betts, Megan N.;
Brangan, Andrew;
Johns, Alicia;
Kirchner, H. Lester;
Lindsey-Mills, Zoe;
McGowan, Mary P.;
Tricou, Eric P.;
Rahm, Alanna Kulchak;
Sturm, Amy C.;
Jones, Laney K.

Publication type:

Article

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.

Published in:

Journal of Personalized Medicine, 2020, v. 10, n. 2, p. 23, doi. 10.3390/jpm10020023

By:

Hendricks-Sturrup, Rachele M.;
Clark-LoCascio, Jodi;
Lu, Christine Y.

Publication type:

Article

Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States.

Published in:

Journal of Personalized Medicine, 2019, v. 9, n. 1, p. 9, doi. 10.3390/jpm9010009

By:

Hendricks-Sturrup, Rachele M.;
Lu, Christine Y.

Publication type:

Article

Genetic screening of malay familial hypercholesterolemia patient for LDLRAP1/PCSK9/APOB mutations via whole exome sequencing.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00673-z

By:

Abdullah-Zawawi, Muhammad-Redha;
Mohd Rani, Zam Zureena;
Seeni Ahamed Mydeen, Nur Syakeera;
Mohd Yunos, Ryia Illani;
Sulaiman, Siti Aishah;
Badaruddin, Izzatul 'Aliaa;
Ismet, Rose;
Mustafa, Norlaila;
Abu Zahid, Syahidatun Najwa;
Jamal, Rahman;
Hamzah, Azrul Azlan;
Abdul Murad, Nor Azian

Publication type:

Article

Familial hypercholesterolemia: genetic predisposition to atherosclerosis.

Published in:

2004

By:

Engler MB

Publication type:

Journal Article

Familial Hypercholesterolemia: Genetic Predisposition To Atherosclerosis.

Published in:

MEDSURG Nursing, 2004, v. 13, n. 4, p. 253

By:

Engler, Mary B.

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

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

Genetic testing for familial hypercholesterolemia in acute coronary syndromes.

Published in:

UBC Medical Journal, 2022, v. 13, n. 2, p. 16

By:

Saleh, Navid;
Brunham, Liam R.

Publication type:

Article

Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio.

Published in:

Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 7, p. 1102, doi. 10.1515/cclm-2018-1037

By:

Di Taranto, Maria Donata;
de Falco, Renato;
Guardamagna, Ornella;
Massini, Giulia;
Giacobbe, Carola;
Auricchio, Renata;
Malamisura, Basilio;
Proto, Michela;
Palma, Daniela;
Greco, Luigi;
Fortunato, Giuliana

Publication type:

Article

Preimplantation genetic diagnosis for familial hypercholesterolaemia: a commentary on the recent HFEA decision.

Published in:

Clinical Ethics, 2008, v. 3, n. 3, p. 145, doi. 10.1258/ce.2008.008021

By:

Boddington, Paula;
Parker, Michael

Publication type:

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

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

Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.

Published in:

European Journal of Preventive Cardiology, 2020, v. 27, n. 15, p. 1639, doi. 10.1177/2047487319898951

By:

Pina, Ana;
Helgadottir, Saga;
Mancina, Rosellina Margherita;
Pavanello, Chiara;
Pirazzi, Carlo;
Montalcini, Tiziana;
Henriques, Roberto;
Calabresi, Laura;
Wiklund, Olov;
Macedo, M Paula;
Valenti, Luca;
Volpe, Giovanni;
Romeo, Stefano

Publication type:

Article

Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.

Published in:

2023

By:

Di Taranto, Maria Donata;
Fortunato, Giuliana

Publication type:

Literature Review

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

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

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

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

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

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

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

Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 7, p. 1399, doi. 10.3390/jcm10071399

By:

Vlad, Cristiana-Elena;
Foia, Liliana Georgeta;
Popescu, Roxana;
Popa, Ioana;
Aanicai, Ruxandra;
Reurean-Pintilei, Delia;
Toma, Vasilica;
Florea, Laura;
Kanbay, Mehmet;
Covic, Adrian;
Kaminski, Karol

Publication type:

Article

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00833

By:

Huang, Chin-Chou;
Charng, Min-Ji

Publication type:

Article