Publications:

Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: FH: 1055G>A

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s002.pdf
• hcg-13-515.pdf

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 1055G>A; Gly352Asp

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Variation in Coronary Atherosclerosis Severity Related to a Distinct LDL (Low-Density Lipoprotein) Profile: Findings From a Familial Hypercholesterolemia Pig Model.

Arteriosclerosis, Thrombosis, And Vascular Biology

Hoogendoorn, Ayla A; den Hoedt, Sandra S; Hartman, Eline M J EMJ; Krabbendam-Peters, Ilona I; Te Lintel Hekkert, Maaike M; van der Zee, Leonie L; van Gaalen, Kim K; Witberg, Karen Th KT; Dorst, Kristien K; Ligthart, Jurgen M R JMR; Drouet, Ludovic L; Van der Heiden, Kim K; van Lennep, Jeanine Roeters JR; van der Steen, Antonius F W AFW; Duncker, Dirk J DJ; Mulder, Monique T MT; Wentzel, Jolanda J JJ

Publication Date: 2019-11

Variant appearance in text: FH: G352D

PubMed Link: 31554418

Variant Present in the following documents:

• atv-39-2338-s001.pdf

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The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research

Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA

Publication Date: 2016-12

Variant appearance in text: FH: 1055G>A; G352D

PubMed Link: 27777316

Variant Present in the following documents:

• Main text

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