Publications:

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Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International Journal Of Molecular Sciences

Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS

Publication Date: 2023-02-24

Variant appearance in text: LDLR: 1327T>C; Trp443Arg; rs773566855

PubMed Link: 36901902

Variant Present in the following documents:

• Main text
• ijms-24-04471.pdf

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Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Lipids In Health And Disease

Zhang, Jun J; Chen, Qiu-Li QL; Guo, Song S; Li, Yan-Hong YH; Li, Chuan C; Zheng, Ru-Jiang RJ; Luo, Xue-Qun XQ; Ma, Hua-Mei HM

Publication Date: 2022-10-13

Variant appearance in text: LDLR: 1327T>C; Trp443Arg

PubMed Link: 36229885

Variant Present in the following documents:

• Main text
• 12944_2022_Article_1710.pdf

View BVdb publication page

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Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia.

Vavilovskii Zhurnal Genetiki I Selektsii

Vasilyev, V B VB; Zakharova, F M FM; Bogoslovskaya, T Yu TY; Mandelshtam, M Yu MY

Publication Date: 2022-05

Variant appearance in text: LDLR: 1327T>C

PubMed Link: 35774363

Variant Present in the following documents:

• VJGB-26-2238.pdf

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The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Journal Of Personalized Medicine

Meshkov, Alexey N AN; Ershova, Alexandra I AI; Kiseleva, Anna V AV; Shalnova, Svetlana A SA; Drapkina, Oxana M OM; Boytsov, Sergey A SA; On Behalf Of The Fh-Esse-Rf Investigators,

Publication Date: 2021-05-24

Variant appearance in text: LDLR: 1327T>C; Trp443Arg; rs773566855

PubMed Link: 34074024

Variant Present in the following documents:

• Main text
• jpm-11-00464.pdf

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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes

Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O

Publication Date: 2021-01-06

Variant appearance in text: LDLR: 1327T>C; Trp443Arg; rs773566855

PubMed Link: 33418990

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics

Vasilyev, Vadim V; Zakharova, Faina F; Bogoslovskay, Tatiana T; Mandelshtam, Mikhail M

Publication Date: 2020

Variant appearance in text: LDLR: 1327T>C; Trp443Arg

PubMed Link: 33391333

Variant Present in the following documents:

• Main text
• fgene-11-550591.pdf

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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease

Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV

Publication Date: 2020-05-14

Variant appearance in text: LDLR: 1327T>C; Trp443Arg

PubMed Link: 32423031

Variant Present in the following documents:

• Main text
• jcdd-07-00016-s001.pdf
• jcdd-07-00016.pdf

View BVdb publication page

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