Publications:

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.

Orphanet Journal Of Rare Diseases

D'Erasmo, Laura L; Gallo, Antonio A; Cefalù, Angelo Baldassare AB; Di Costanzo, Alessia A; Saheb, Samir S; Giammanco, Antonina A; Averna, Maurizio M; Buonaiuto, Alessio A; Iannuzzo, Gabriella G; Fortunato, Giuliana G; Puja, Arturo A; Montalcini, Tiziana T; Pavanello, Chiara C; Calabresi, Laura L; Vigna, Giovanni Battista GB; Bucci, Marco M; Bonomo, Katia K; Nota, Fabio F; Sampietro, Tiziana T; Sbrana, Francesco F; Suppressa, Patrizia P; Sabbà, Carlo C; Fimiani, Fabio F; Cesaro, Arturo A; Calabrò, Paolo P; Palmisano, Silvia S; D'Addato, Sergio S; Pisciotta, Livia L; Bertolini, Stefano S; Bittar, Randa R; Kalmykova, Olga O; Béliard, Sophie S; Carrié, Alain A; Arca, Marcello M; Bruckert, Eric E

Publication Date: 2021-09-08

Variant appearance in text: LDLR: 373C>T

PubMed Link: 34496902

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1999.pdf

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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics

Kamar, Amina A; Khalil, Athar A; Nemer, Georges G

Publication Date: 2020

Variant appearance in text: LDLR: 373C>T; Gln125*

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: LDLR: 373C>T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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