A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis

Por Schneider, Hauke, Lingesleben, Alexandra, Vogel, Hans-Peter, Garuti, Rita, Calandra, Sebastiano
Publicado em 2010

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Por Calandra, Sebastiano, Tarugi, Patrizia, Speedy, Helen E., Dean, Andrew F., Bertolini, Stefano, Shoulders, Carol C.
Publicado em 2011

Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach with Exchange Transfusion

Por Pugni, Lorenza, Riva, Enrica, Pietrasanta, Carlo, Rabacchi, Claudio, Bertolini, Stefano, Pederiva, Cristina, Mosca, Fabio, Calandra, Sebastiano
Publicado em 2013

Abnormal apolipoprotein B pre‐mRNA splicing in patients with familial hypobetalipoproteinaemia

Por Leo, Enza Di, Magnolo, Lucia, Lancellotti, Sandra, Crocè, Lory, Visintin, Luca, Tiribelli, Claudio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia
Publicado em 2007

Lipoprotein Glomerulopathy Associated with a Mutation in Apolipoprotein E

Por Magistroni, Riccardo, Bertolotti, Marco, Furci, Luciana, Fano, Rita Adriana, Leonelli, Marco, Pisciotta, Livia, Pellegrini, Elisa, Calabresi, Laura, Bertolini, Stefano, Calandra, Sebastiano
Publicado em 2013

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

Por Sechi, Annalisa, Dardis, Andrea, Zampieri, Stefania, Rabacchi, Claudio, Zanoni, Paolo, Calandra, Sebastiano, De Maglio, Giovanna, Pizzolitto, Stefano, Maruotti, Valerio, Di Muzio, Antonio, Platt, Frances, Bembi, Bruno
Publicado em 2014

Transcriptional Regulation of Human CYP27 Integrates Retinoid, Peroxisome Proliferator-Activated Receptor, and Liver X Receptor Signaling in Macrophages

Por Szanto, Attila, Benko, Szilvia, Szatmari, Istvan, Balint, Balint L., Furtos, Ibolya, Rühl, Ralph, Molnar, Sandor, Csiba, Laszlo, Garuti, Rita, Calandra, Sebastiano, Larsson, Hanna, Diczfalusy, Ulf, Nagy, Laszlo
Publicado em 2004

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Por Minicocci, Ilenia, Santini, Sara, Cantisani, Vito, Stitziel, Nathan, Kathiresan, Sekar, Arroyo, Juan Antonio, Martí, Gertrudis, Pisciotta, Livia, Noto, Davide, Cefalù, Angelo B., Maranghi, Marianna, Labbadia, Giancarlo, Pigna, Giovanni, Pannozzo, Fabio, Ceci, Fabrizio, Ciociola, Ester, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Averna, Maurizio, Arca, Marcello
Publicado em 2013

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

Por Futema, Marta, Plagnol, Vincent, Li, KaWah, Whittall, Ros A, Neil, H Andrew W, Seed, Mary, Bertolini, Stefano, Calandra, Sebastiano, Descamps, Olivier S, Graham, Colin A, Hegele, Robert A, Karpe, Fredrik, Durst, Ronen, Leitersdorf, Eran, Lench, Nicholas, Nair, Devaki R, Soran, Handrean, Van Bockxmeer, Frank M, Humphries, Steve E
Publicado em 2014

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

Por Versmissen, Jorie, Oosterveer, Daniëlla M, Yazdanpanah, Mojgan, Dehghan, Abbas, Hólm, Hilma, Erdman, Jeanette, Aulchenko, Yurii S, Thorleifsson, Gudmar, Schunkert, Heribert, Huijgen, Roeland, Vongpromek, Ranitha, Uitterlinden, André G, Defesche, Joep C, van Duijn, Cornelia M, Mulder, Monique, Dadd, Tony, Karlsson, Hróbjartur D, Ordovas, Jose, Kindt, Iris, Jarman, Amelia, Hofman, Albert, van Vark-van der Zee, Leonie, Blommesteijn-Touw, Adriana C, Kwekkeboom, Jaap, Liem, Anho H, van der Ouderaa, Frans J, Calandra, Sebastiano, Bertolini, Stefano, Averna, Maurizio, Langslet, Gisle, Ose, Leiv, Ros, Emilio, Almagro, Fátima, de Leeuw, Peter W, Civeira, Fernando, Masana, Luis, Pintó, Xavier, Simoons, Maarten L, Schinkel, Arend FL, Green, Martin R, Zwinderman, Aeilko H, Johnson, Keith J, Schaefer, Arne, Neil, Andrew, Witteman, Jacqueline CM, Humphries, Steve E, Kastelein, John JP, Sijbrands, Eric JG
Publicado no Eur J Hum Genet (2015)