Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 180 Records) |
| Query Trace: Hypercholesterolemia and APOB[original query] |
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| Relations of physical signs to genotype, lipid and inflammatory markers, coronary stenosis or calcification, and outcomes in patients with heterozygous familial hypercholesterolemia. Journal of translational medicine 2021 12 19 (1): 498. Liu Ming-Ming, Peng Jia, Guo Yuan-Lin, Zhu Cheng-Gang, Wu Na-Qiong, Xu Rui-Xia, Dong Qian, Li Jian-J |
| Apolipoprotein B gene mutation related to familial hypercholesterolemia in an Iranian population: With or without hypothyroidism. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences 2021 12 26 94. Vaseghi Golnaz, Malakoutikhah Zahra, Shafiee Zahra, Gharipour Mojgan, Shariati Laleh, Sadeghian Ladan, Khosravi Elham, Javanmard Shaghayegh Haghjooy, Pourmoghaddas Ali, Laher Ismail, Zarfeshani Sonia, Sarrafzadegan Niz |
| Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia). Journal of personalized medicine 2021 11 11 (11): . Shakhtshneider Elena, Ivanoshchuk Dinara, Timoshchenko Olga, Orlov Pavel, Semaev Sergey, Valeev Emil, Goonko Andrew, Ladygina Nataliya, Voevoda Mikha |
| Differential distribution of gene polymorphisms associated with hypercholesterolemia, hypertriglyceridemia, and hypoalphalipoproteinemia among Native American and Mestizo Mexicans. World journal of hepatology 2022 9 14 (7): 1408-1420. Torres-Valadez Rafael, Roman Sonia, Ojeda-Granados Claudia, Gonzalez-Aldaco Karina, Panduro Artu |
| Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study. Frontiers in genetics 2022 9 13 971651. Arrobas Velilla Teresa, Brea Ángel, Valdivielso Ped |
| The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects. Frontiers in genetics 2022 8 13 927504. Diboun Ilhame, Al-Sarraj Yasser, Toor Salman M, Mohammed Shaban, Qureshi Nadeem, Al Hail Moza S H, Jayyousi Amin, Al Suwaidi Jassim, Albagha Omar M |
| Effect of Omega-3 Fatty Acid Supplementation on the Postprandial Metabolism of Apolipoprotein(a) in Familial Hypercholesterolemia. Journal of atherosclerosis and thrombosis 2022 6 . Ying Qidi, Croyal Mikaël, Chan Dick C, Blanchard Valentin, Pang Jing, Krempf Michel, Watts Gerald |
| APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia. International journal of molecular sciences 2022 5 23 (10): . Abou Khalil Yara, Marmontel Oriane, Ferrières Jean, Paillard François, Yelnik Cécile, Carreau Valérie, Charrière Sybil, Bruckert Eric, Gallo Antonio, Giral Philippe, Philippi Anne, Bluteau Olivier, Boileau Catherine, Abifadel Marianne, Di-Filippo Mathilde, Carrié Alain, Rabès Jean-Pierre, Varret Mathil |
| A Very Rare Variant in SREBF2, a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels. Biomedicines 2022 5 10 (5): . García-García Ana-Bárbara, Martínez-Hervás Sergio, Vernia Santiago, Ivorra Carmen, Pulido Inés, Martín-Escudero Juan-Carlos, Casado Marta, Carretero Julián, Real José T, Chaves Felipe Javi |
| Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. BMC genomics 2022 May 23 (1): 385. Feng Yen-Chen A, Stanaway Ian B, Connolly John J, Denny Joshua C, Luo Yuan, Weng Chunhua, Wei Wei-Qi, Weiss Scott T, Karlson Elizabeth W, Smoller Jordan |
| Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients. Atherosclerosis 2022 3 347 63-67. Noto Davide, Spina Rossella, Giammanco Antonina, Barbagallo Carlo M, Ganci Antonina, Scrimali Chiara, Brucato Federica, Misiano Gabriella, Ciaccio Marcello, Caldarella Rosalia, Cefalù Angelo B, Averna Mauriz |
| Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe. Journal of personalized medicine 2022 3 12 (3): . Ma?taleru Alexandra, Cojocariu Sabina Alexandra, Oancea Andra, Constantin Maria Magdalena Leon, Roca Mihai, Zota Ioana M?d?lina, Abdulan Irina, Rusu Cristina, Popescu Roxana, Antoci Lucian Mihai, Ciobanu Cristian Gabriel, Costache Alexandru Dan, Cojocaru Elena, Mitu Flor |
| Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia. Metabolites 2022 3 12 (3): . Ghaleb Youmna, Elbitar Sandy, Philippi Anne, El Khoury Petra, Azar Yara, Andrianirina Miangaly, Loste Alexia, Abou-Khalil Yara, Nicolas Gaël, Le Borgne Marie, Moulin Philippe, Di-Filippo Mathilde, Charrière Sybil, Farnier Michel, Yelnick Cécile, Carreau Valérie, Ferrières Jean, Lecerf Jean-Michel, Derksen Alexa, Bernard Geneviève, Gauthier Marie-Soleil, Coulombe Benoit, Lütjohann Dieter, Fin Bertrand, Boland Anne, Olaso Robert, Deleuze Jean-François, Rabès Jean-Pierre, Boileau Catherine, Abifadel Marianne, Varret Mathil |
| [Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents]. Revista medica de Chile 2022 3 149 (9): 1267-1274. Sánchez Andrea, Bustos Paulina, Honorato Paula, Sáez Katia, Elim-Jannes Cinthia, Barriga Natalia, Ibieta Guillermo, Pérez Luis, Alonso Rodrigo, Radojkovic Claudia, Asenjo Sylv |
| Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure. Circulation. Genomic and precision medicine 2022 Feb CIRCGEN121003501. Clarke Shoa L, Tcheandjieu Catherine, Hilliard Austin T, Lee Kyung Min, Lynch Julie, Chang Kyong-Mi, Miller Donald, Knowles Joshua W, O'Donnell Christopher, Tsao Philip S, Rader Daniel J, Wilson Peter W, Sun Yan V, Gaziano J Michael, Assimes Themistocles L, |
| LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients. Gene 2022 12 853 147084. Barbosa Thais Kristini Almendros, Hirata Rosario Dominguez Crespo, Ferreira Glaucio Monteiro, Borges Jéssica Bassani, Oliveira Victor Fernandes de, Gorjão Renata, Marçal Elisangela Rodrigues da Silva, Gonçalves Rodrigo Marques, Faludi André Arpad, Freitas Renata Caroline Costa de, Dagli-Hernandez Carolina, Bortolin Raul Hernandes, Bastos Gisele Medeiros, Pithon-Curi Tania Cristina, Nader Helena Bonciani, Hirata Mario Hiroyu |
| Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis. JACC. Asia 2022 11 1 (1): 82-89. Cao Ye-Xuan, Sun Di, Liu Hui-Hui, Jin Jing-Lu, Li Sha, Guo Yuan-Lin, Wu Na-Qiong, Zhu Cheng-Gang, Liu Geng, Dong Qian, Sun Jing, Chen Xie-Hui, Li Jian-J |
| Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations. Genome medicine 2022 11 14 (1): 132. Sandholm Niina, Hotakainen Ronja, Haukka Jani K, Jansson Sigfrids Fanny, Dahlström Emma H, Antikainen Anni A, Valo Erkka, Syreeni Anna, Kilpeläinen Elina, Kytölä Anastasia, Palotie Aarno, Harjutsalo Valma, Forsblom Carol, Groop Per-Henrik, |
| A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia. The Journal of clinical endocrinology and metabolism 2022 10 108 (2): 422-432. Hori Mika, Takahashi Atsushi, Hosoda Kiminori, Ogura Masatsune, Harada-Shiba Mari |
| Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia. Genes 2022 1 13 (1): . Madar László, Juhász Lilla, Sz?cs Zsuzsanna, Kerkovits Lóránt, Harangi Mariann, Balogh Istv |
| Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates. Frontiers in genetics 2022 1 12 809256. 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 Tays |
| Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients. Cardiology research and practice 2023 5 2023 2236422. Hiroshi Miyama, Yoshinori Katsumata, Mizuki Momoi, Genki Ichihara, Taishi Fujisawa, Jin Endo, Takashi Kawakami, Masaharu Kataoka, Shinsuke Yuasa, Motoaki Sano, Kazuki Sato, Keiichi Fuku |
| Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing. Gene 2023 5 875 147501. Jéssica Bassani Borges, Victor Fernandes Oliveira, Carolina Dagli-Hernandez, Glaucio Monteiro Ferreira, Thais Kristini Almendros Afonso Barbosa, Elisangela da Silva Rodrigues Marçal, Bruna Los, Vanessa Barbosa Malaquias, Raul Hernandes Bortolin, Renata Caroline Costa Freitas, Augusto Akira Mori, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Daniel Branco Araújo, Henry Zatz, Adriana Bertolami, André Arpad Faludi, Marcelo Chiara Bertolami, Amanda Guerra de Moraes Rego Souza, João Ítalo Dias França, Helena Strelow Thurow, Thiago Dominguez Crespo Hirata, Helder Takashi Imoto Nakaya, Cinthia Elim Jannes, Alexandre da Costa Pereira, Vivian Nogueira Silbiger, André Ducati Luchessi, Jéssica Nayara Góes Araújo, Marcelo Arruda Nakazone, Tayanne Silva Carmo, Dorotéia Rossi Silva Souza, Patricia Moriel, Jaqueline Yu Ting Wang, Michel Satya Naslavsky, Renata Gorjão, Tania Cristina Pithon-Curi, Rui Curi, Cristina Moreno Fajardo, Hui-Tzu Lin Wang, Adriana Regina Garófalo, Alvaro Cerda, Marcelo Ferraz Sampaio, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hira |
| Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients. International journal of molecular sciences 2023 4 24 (8): . Carmen Rodríguez-Jiménez, Gema de la Peña, Javier Sanguino, Sara Poyatos-Peláez, Ana Carazo, Pedro L Martínez-Hernández, Francisco Arrieta, José M Mostaza, Diego Gómez-Coronado, Sonia Rodríguez-Nóv |
| Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 3 e003887. Chaudhry Ahsen, Trinder Mark, Vesely Kristin, Cermakova Lubomira, Jackson Linda, Wang Jian, Hegele Robert A, Brunham Liam |
| Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia. Journal of clinical medicine 2023 2 12 (3): . Aparicio Andrea, Villazón Francisco, Suárez-Gutiérrez Lorena, Gómez Juan, Martínez-Faedo Ceferino, Méndez-Torre Edelmiro, Avanzas Pablo, Álvarez-Velasco Rut, Cuesta-Llavona Elías, García-Lago Claudia, Neuhalfen David, Coto Eliecer, Lorca Rebe |
| Targeted sequencing of a gene panel in patients with Familial Hypercholesterolemia from Southern Poland. Polish archives of internal medicine 2023 1 . Toto?-?ura?ska Justyna, Wo?kow Pawe?, Kapusta Maria, Wójcik Ma?gorzata, Starzyk Jerzy, Kawalec Ewa, Idzior-Walu? Barbara, Walu?-Miarka Ma?gorza |
| Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype. Clinical chemistry 2023 1 69 (2): 140-148. Bea Ana M, Cenarro Ana, Marco-Bened Victoria, Laclaustra Martn, Martn Csar, Ibarretxe Daiana, Pint Xavier, Arrobas Teresa, Vials Clara, Civeira Fernando, Olmos Salvad |
| Atherosclerosis severity in patients with familial hypercholesterolemia: The role of T and B lymphocytes. Atherosclerosis plus 2023 1 48 27-36. Fonzar Waleria T, Fonseca Francisco A, Fonseca Henrique A, Silva Tuany P, Rodrigues Alfredo A, Teixeira Daniela, Ishimura Mayari E, Coste Maria E, França Carolina N, Bianco Henrique T, Gidlund Magnus, Morais Rafael L, Bittencourt Clarissa A, Fonzar Carlos A, Sant'Anna Viviane A, Maugeri Ieda L, Pesquero Joao B, Izar Maria |
| Novel protein-truncating variant in the APOB gene may protect from coronary artery disease and adverse cardiovascular events. Atherosclerosis plus 2023 1 49 42-46. Mango Gabriele, Osti Nicola, Udali Silvia, Vareschi Anna, Malerba Giovanni, Giorgetti Alejandro, Pizzolo Francesca, Friso Simonetta, Girelli Domenico, Olivieri Oliviero, Castagna Annalisa, Martinelli Nico |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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