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Familial hypercholesterolemia

Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study

Han-Ying Chen, Yi-Ting Wang, Jessica Kang, Yi-Yun Tai, Ti-Jia Yuan, Shin-Yu Lin, Shi-Ming Lin, Chien-Nan Lee, Tsang-Ming Ko

published 02 Dec 2025

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Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study

Anastasia V. Blokhina, Alexandra I. Ershova, Anna V. Kiseleva, Evgeniia A. Sotnikova, Anastasia A. Zharikova, Marija Zaicenoka, Yuri V. Vyatkin, Vasily E. Ramensky, Vladimir A. Kutsenko, Olga A. Litinskaya, Maria S. Pokrovskaya, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina

published 20 Dec 2024

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Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia

Ya-nan Hu, Min Wu, Hong-ping Yu, Qiu-yan Wu, Ying Chen, Jian-Hui Zhang, Dan-dan Ruan, Yan-ping Zhang, Jing Zou, Li Zhang, Xin-fu Lin, Zhu-ting Fang, Li-Sheng Liao, Fan Lin, Hong Li, Jie-Wei Luo

published 11 Oct 2024

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A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release

Deborah J. Thompson, Daniel Wells, Saskia Selzam, Iliana Peneva, Rachel Moore, Kevin Sharp, William A. Tarran, Edward J. Beard, Fernando Riveros-Mckay, Carla Giner-Delgado, Duncan Palmer, Priyanka Seth, James Harrison, Marta Futema, Genomics England Research Consortium , Gil McVean, Vincent Plagnol, Peter Donnelly, Michael E. Weale

published 18 Sep 2024

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CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing

Sijia Xu, Hiroki Shiomi, Yugo Yamashita, Satoshi Koyama, Takahiro Horie, Osamu Baba, Masahiro Kimura, Yasuhiro Nakashima, Naoya Sowa, Koji Hasegawa, Ayako Suzuki, Yutaka Suzuki, Takeshi Kimura, Koh Ono

published 20 Mar 2024

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Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia

João Albuquerque, Ana Margarida Medeiros, Ana Catarina Alves, Mafalda Bourbon, Marília Antunes

published 24 Jun 2022

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Healthcare worker-based opportunistic screening for familial hypercholesterolemia in a low-resource setting

Sonali Sharma, Ashish Khudiwal, Sonal Bhardwaj, Hemant Chaturvedi, Rajeev Gupta

published 09 Jun 2022

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The effects of cholesterol accumulation on Achilles tendon biomechanics: A cross-sectional study

Kipling Squier, Alexander Scott, Michael A. Hunt, Liam R. Brunham, David R. Wilson, Hazel Screen, Charlie M. Waugh

published 16 Sep 2021

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Screening and treatment of familial hypercholesterolemia in a French sample of ambulatory care patients: A retrospective longitudinal cohort study

Jean Ferrières, Victoria Banks, Demetris Pillas, Francesco Giorgianni, Laurene Gantzer, Beranger Lekens, Lea Ricci, Margaux Dova-Boivin, Jean-Vannak Chauny, Guillermo Villa, Gaelle Désaméricq

published 02 Aug 2021

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The economic impact of hypercholesterolemia and mixed dyslipidemia: A systematic review of cost of illness studies

Pietro Ferrara, Danilo Di Laura, Paolo A. Cortesi, Lorenzo G. Mantovani

published 12 Jul 2021

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Familial Hypercholesterolemia in the Arabian Gulf Region: Clinical results of the Gulf FH Registry

Khalid F. Alhabib, Khalid Al-Rasadi, Turky H. Almigbal, Mohammed A. Batais, Ibrahim Al-Zakwani, Faisal A. Al-Allaf, Khalid Al-Waili, Fahad Zadjali, Mohammad Alghamdi, Fahad Alnouri, Zuhier Awan, Abdulhalim J. Kinsara, Ahmed AlQudaimi, Wael Almahmeed, Hani Sabbour, Mahmoud Traina, Bassam Atallah, Mohammed Al-Jarallah, Ahmad AlSarraf, Nasreen AlSayed, Haitham Amin, Hani Altaradi

published 04 Jun 2021

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Barriers, facilitators, and solutions to familial hypercholesterolemia treatment

Laney K. Jones, Amy C. Sturm, Terry L. Seaton, Christina Gregor, Samuel S. Gidding, Marc S. Williams, Alanna Kulchak Rahm

published 23 Dec 2020

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High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence

Joon Hee Lee, Da Young Song, Sun-Hee Jun, Sang Hoon Song, Choong Ho Shin, Chang-Seok Ki, Kyunghoon Lee, Junghan Song

published 26 Aug 2020

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