Publications:

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Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.

Medical Sciences (Basel, Switzerland)

Chuluun-Erdene, Ariunbold A; Sengeragchaa, Orgil O; Altangerel, Tsend-Ayush TA; Sanjmyatav, Purevjal P; Dagdan, Batnaran B; Battulga, Solongo S; Enkhbat, Lundiamaa L; Byambasuren, Nyamjav N; Malchinkhuu, Munkhzol M; Janlav, Munkhtstetseg M

Publication Date: 2020-09-02

Variant appearance in text: LDLR: Val653Val

PubMed Link: 32887252

Variant Present in the following documents:

• Main text

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Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.

Experimental And Therapeutic Medicine

Cheng, Xinyao X; Huang, Yifang Y; Qiu, Xueping X; Cheng, Xiaohuan X; Jin, Yalei Y; Hu, Yafei Y; Yang, Bing B; Zhao, Jingbo J; Lei, Yuhua Y; Zheng, Fang F

Publication Date: 2018-08

Variant appearance in text: LDLR: Val653Val

PubMed Link: 30112042

Variant Present in the following documents:

• Main text

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Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg

Safarova, Maya S MS; Klee, Eric W EW; Baudhuin, Linnea M LM; Winkler, Erin M EM; Kluge, Michelle L ML; Bielinski, Suzette J SJ; Olson, Janet E JE; Kullo, Iftikhar J IJ

Publication Date: 2017-04

Variant appearance in text: LDLR: Val653Val

PubMed Link: 28145427

Variant Present in the following documents:

• Main text

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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental

Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE

Publication Date: 2016-03

Variant appearance in text: LDLR: Val653Val

PubMed Link: 26892515

Variant Present in the following documents:

• Main text
• main.pdf

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Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene

Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M

Publication Date: 2014-12

Variant appearance in text: LDLR: Val653Val

PubMed Link: 25606447

Variant Present in the following documents:

• Main text

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: LDLR: V653V

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 4

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Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics

Komarova, Tatiana Yu TY; Korneva, Victoria A VA; Kuznetsova, Tatiana Yu TY; Golovina, Alexandra S AS; Vasilyev, Vadim B VB; Mandelshtam, Michail Yu MY

Publication Date: 2013-12-27

Variant appearance in text: LDLR: Val653=

PubMed Link: 24373485

Variant Present in the following documents:

• Main text
• 1471-2350-14-128.pdf

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Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil.

Genetics And Molecular Biology

Nakazone, Marcelo A MA; De Marchi, Miguel A MA; Pinhel, Marcela A S MA; Barros, Carolina F D C CF; Júlio, Maysa A F MA; Pinheiro, Anielli A; Arazi, Simone S SS; Hotta, Júlia K JK; Hirata, Mário H MH; Hirata, Rosario D C RD; Dos Santos, José E JE; Souza, Dorotéia R S DR

Publication Date: 2009-04

Variant appearance in text: LDLR: Val653Val

PubMed Link: 21637672

Variant Present in the following documents:

• Main text

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Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics

Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA

Publication Date: 2011-03-19

Variant appearance in text: LDLR: Val653Val

PubMed Link: 21418584

Variant Present in the following documents:

• Main text

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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology

Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F

Publication Date: 2009-03

Variant appearance in text: LDLR: Val653Val

PubMed Link: 19041386

Variant Present in the following documents:

• Main text

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