Publications:

Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations.

Journal Of The American Heart Association

Olmastroni, Elena E; Gazzotti, Marta M; Arca, Marcello M; Averna, Maurizio M; Pirillo, Angela A; Catapano, Alberico Luigi AL; Casula, Manuela M; ,

Publication Date: 2022-04-05

Variant appearance in text: FH: 662A>G

PubMed Link: 35322671

Variant Present in the following documents:

• JAH3-11-e023668-s001.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: 662A>G; Lys221Arg

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Allele mining unlocks the identification of RYMV resistance genes and alleles in African cultivated rice.

Bmc Plant Biology

Pidon, Hélène H; Chéron, Sophie S; Ghesquière, Alain A; Albar, Laurence L

Publication Date: 2020-05-19

Variant appearance in text: FH: K221R

PubMed Link: 32429875

Variant Present in the following documents:

• 12870_2020_2433_MOESM1_ESM.xls, sheet 5

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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: 662A>G

PubMed Link: 27777316

Variant Present in the following documents:

• Main text

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The loss of the p53 activator HIPK2 is responsible for galectin-3 overexpression in well differentiated thyroid carcinomas.

Plos One

Lavra, Luca L; Rinaldo, Cinzia C; Ulivieri, Alessandra A; Luciani, Emidio E; Fidanza, Paolo P; Giacomelli, Laura L; Bellotti, Carlo C; Ricci, Alberto A; Trovato, Maria M; Soddu, Silvia S; Bartolazzi, Armando A; Sciacchitano, Salvatore S

Publication Date: 2011

Variant appearance in text: FH: K221R

PubMed Link: 21698151

Variant Present in the following documents:

• Main text
• pone.0020665.pdf

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