Publications:

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Familial Hypercholesterolemia: Real-World Data of 1236 Patients Attending a Czech Lipid Clinic. A Retrospective Analysis of Experience in More than 50 years. Part I: Genetics and Biochemical Parameters.

Frontiers In Genetics

Todorovova, Veronika V; Altschmiedova, Tereza T; Vrablik, Michal M; Ceska, Richard R

Publication Date: 2022

Variant appearance in text: APOB: R158C

PubMed Link: 35295947

Variant Present in the following documents:

• Main text
• fgene-13-849008.pdf

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Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports

Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM

Publication Date: 2021-09-27

Variant appearance in text: APOB: Arg158Cys

PubMed Link: 34580349

Variant Present in the following documents:

• 41598_2021_98414_MOESM2_ESM.xlsx, sheet 5

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Association between APOE polymorphisms and lipid profile in Mexican Amerindian population.

Molecular Genetics & Genomic Medicine

Martínez-Magaña, José J JJ; Genis-Mendoza, Alma D AD; Tovilla-Zarate, Carlos A CA; González-Castro, Thelma B TB; Juárez-Rojop, Isela Esther IE; Hernández-Díaz, Yazmín Y; Martinez-Hernandez, Angélica G AG; Garcia-Ortíz, Humberto H; Orozco, Lorena L; López-Narvaez, María L ML; Nicolini, Humberto H

Publication Date: 2019-11

Variant appearance in text: APOB: R158C

PubMed Link: 31557780

Variant Present in the following documents:

• MGG3-7-e958.pdf

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Role of apolipoprotein E in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment

Giau, Vo Van VV; Bagyinszky, Eva E; An, Seong Soo A SS; Kim, Sang Yun SY

Publication Date: 2015

Variant appearance in text: APOB: Arg158Cys

PubMed Link: 26213471

Variant Present in the following documents:

• Main text
• ndt-11-1723.pdf

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Polymorphisms of genes involved in lipid metabolism and risk of chronic kidney disease in Japanese - cross-sectional data from the J-MICC study.

Lipids In Health And Disease

Hishida, Asahi A; Wakai, Kenji K; Naito, Mariko M; Suma, Shino S; Sasakabe, Tae T; Hamajima, Nobuyuki N; Hosono, Satoyo S; Horita, Mikako M; Turin, Tanvir Chowdhury TC; Suzuki, Sadao S; Kairupan, Tara Sefanya TS; Mikami, Haruo H; Ohnaka, Keizo K; Watanabe, Isao I; Uemura, Hirokazu H; Kubo, Michiaki M; Tanaka, Hideo H; ,

Publication Date: 2014-10-14

Variant appearance in text: APOB: Arg158Cys

PubMed Link: 25311932

Variant Present in the following documents:

• Main text
• 12944_2014_Article_1143.pdf

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What We Know About Diet, Genes, and Dyslipidemia: Is There Potential for Translation?

Current Nutrition Reports

Pollin, Toni I TI; Quartuccio, Michael M

Publication Date: 2013-12

Variant appearance in text: APOB: Arg158Cys

PubMed Link: 24524012

Variant Present in the following documents:

• Main text

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Genetics of lipid traits and relationship to coronary artery disease.

Current Cardiology Reports

Keenan, Tanya E TE; Rader, Daniel J DJ

Publication Date: 2013-09

Variant appearance in text: APOB: Arg158Cys

PubMed Link: 23881580

Variant Present in the following documents:

• Main text

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A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Graph Theory.

Neurology Research International

Buscema, Massimo M; Penco, Silvana S; Grossi, Enzo E

Publication Date: 2012

Variant appearance in text: APOB: arg158cys

PubMed Link: 22934166

Variant Present in the following documents:

• NRI2012-478560.pdf

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Are centenarians genetically predisposed to lower disease risk?

Age (Dordrecht, Netherlands)

Ruiz, Jonatan R JR; Fiuza-Luces, Carmen C; Buxens, Amaya A; Cano-Nieto, Amalia A; Gómez-Gallego, Félix F; Santiago, Catalina C; Rodríguez-Romo, Gabriel G; Garatachea, Nuria N; Lao, José I JI; Morán, María M; Lucia, Alejandro A

Publication Date: 2012-10

Variant appearance in text: APOB: Arg158Cys

PubMed Link: 21894447

Variant Present in the following documents:

• Main text

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Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.

Plos Genetics

Sanna, Serena S; Li, Bingshan B; Mulas, Antonella A; Sidore, Carlo C; Kang, Hyun M HM; Jackson, Anne U AU; Piras, Maria Grazia MG; Usala, Gianluca G; Maninchedda, Giuseppe G; Sassu, Alessandro A; Serra, Fabrizio F; Palmas, Maria Antonietta MA; Wood, William H WH; Njølstad, Inger I; Laakso, Markku M; Hveem, Kristian K; Tuomilehto, Jaakko J; Lakka, Timo A TA; Rauramaa, Rainer R; Boehnke, Michael M; Cucca, Francesco F; Uda, Manuela M; Schlessinger, David D; Nagaraja, Ramaiah R; Abecasis, Gonçalo R GR

Publication Date: 2011-07

Variant appearance in text: APOB: R158C

PubMed Link: 21829380

Variant Present in the following documents:

• Main text
• pgen.1002198.pdf

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Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

Circulation. Cardiovascular Genetics

Chasman, Daniel I DI; Paré, Guillaume G; Zee, Robert Y L RY; Parker, Alex N AN; Cook, Nancy R NR; Buring, Julie E JE; Kwiatkowski, David J DJ; Rose, Lynda M LM; Smith, Joshua D JD; Williams, Paul T PT; Rieder, Mark J MJ; Rotter, Jerome I JI; Nickerson, Deborah A DA; Krauss, Ronald M RM; Miletich, Joseph P JP; Ridker, Paul M PM

Publication Date: 2008-10

Variant appearance in text: APOB: R158C

PubMed Link: 19802338

Variant Present in the following documents:

• Main text

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New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics

Penco, Silvana S; Buscema, Massimo M; Patrosso, Maria Cristina MC; Marocchi, Alessandro A; Grossi, Enzo E

Publication Date: 2008-05-30

Variant appearance in text: APOB: arg158cys

PubMed Link: 18513389

Variant Present in the following documents:

• 1471-2105-9-254.pdf

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Human pharmacogenomic variations and their implications for antifungal efficacy.

Clinical Microbiology Reviews

Meletiadis, Joseph J; Chanock, Stephen S; Walsh, Thomas J TJ

Publication Date: 2006-10

Variant appearance in text: APOB: Arg158Cys

PubMed Link: 17041143

Variant Present in the following documents:

• Main text

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Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism.

American Journal Of Human Genetics

Hegele, R A RA

Publication Date: 2001-12

Variant appearance in text: APOB: R158C

PubMed Link: 11704922

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• Main text

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A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation.

Genome Research

Nelson, M R MR; Kardia, S L SL; Ferrell, R E RE; Sing, C F CF

Publication Date: 2001-03

Variant appearance in text: APOB: R158C

PubMed Link: 11230170

Variant Present in the following documents:

• Main text

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