Publications:

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical Genetics

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G

Publication Date: 2021-11

Variant appearance in text: LDLR: 440C>T; Thr147Ile; rs879254524

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

View BVdb publication page

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LDLR: T147I

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Journal Of Lipid Research

Romano, Maria M; Di Taranto, Maria Donata MD; Mirabelli, Peppino P; D'Agostino, Maria Nicoletta MN; Iannuzzi, Arcangelo A; Marotta, Gennaro G; Gentile, Marco M; Raia, Maddalena M; Di Noto, Rosa R; Del Vecchio, Luigi L; Rubba, Paolo P; Fortunato, Giuliana G

Publication Date: 2011-11

Variant appearance in text: LDLR: 440C>T; Thr147Ile

PubMed Link: 21865347

Variant Present in the following documents:

• Main text

View BVdb publication page