Molecular characterization of familial hypercholesterolemia in Spain von Palacios, Lourdes, Grandoso, Laura, Cuevas, Nerea, Olano-Martín, Estíbaliz, Martinez, Antonio, Tejedor, Diego, Stef, Marianne

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The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes von Cenarro, Ana, Etxebarria, Aitor, de Castro-Orós, Isabel, Stef, Marianne, Bea, Ana M, Palacios, Lourdes, Mateo-Gallego, Rocío, Benito-Vicente, Asier, Ostolaza, Helena, Tejedor, Teresa, Martín, César, Civeira, Fernando

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A case of Tn polyagglutination discovered by an ABO blood group discrepancy von Achram, Robert, Denomme, Gregory A., Stef, Marianne A., Nguyen, Thi Truc Anh, Delvadia, Bhavesh, Thompson, Louisa, Josephson, Cassandra D., Roback, John D., Sullivan, H. Cliff

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A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe von Stef, Marianne A, Palacios, Lourdes, Olano-Martín, Estibaliz, Foe-A-Man, Carolyn, van de Kerkhof, Laura, Klaaijsen, Lisette N, Molano, Araitz, Schuurman, Ellen J, Tejedor, Diego, Defesche, Joep C

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Homozygous Familial Hypercholesterolemia in Spain von Sanchez-Hernandez, Rosa M, Civeira, Fernando, Stef, Marianne, Perez-Calahorra, Sofia, Almagro, Fatima, Plana, Nuria, Novoa, Francisco J, Saenz-Aranzubia, Pedro, Mosquera, Daniel, Soler, Cristina, Fuentes, Francisco J, Brito-Casillas, Yeray, Real, Jose T, Blanco-Vaca, Francisco, Ascaso, Juan F, Pocovi, Miguel

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RH genotyping by nonspecific quantitative next‐generation sequencing von Stef, Marianne, Fennell, Katie, Apraiz, Izaskun, Arteta, David, González, Cecilia, Nogués, Nuria, Ochoa‐Garay, Gorka

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A novel homozygous nonsense mutation in GYPB causes S‐s‐U‐phenotype von Costa, Tie, Stef, Marianne, Santos, Lhais Helenne, Medeiros, Alba Maria, Monteiro, Claudia, Miyajima, Veridiana, Mesquita, Vanessa, Carlos, Luciana Maria, Brunetta, Denise Menezes

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Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants von Etxebarria, Aitor, Benito-Vicente, Asier, Palacios, Lourdes, Stef, Marianne, Cenarro, Ana, Civeira, Fernando, Ostolaza, Helena, Martin, Cesar

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Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia von Benito-Vicente, Asier, Uribe, Kepa B., Larrea-Sebal, Asier, Palacios, Lourdes, Cenarro, Ana, Calle, Xabier, Galicia-Garcia, Unai, Jebari, Shifa, Sánchez-Hernández, Rosa M., Stef, Marianne, Lambert, Gilles, Civeira, Fernando, Martín, Cesar

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A New Tool Based on Next Generation Sequencing for an Efficient and Rapid Diagnosis of Familial Hypercholesterolemia von Vietz, Christine, PhD, Palacios, Lourdes, PhD, Olano-Martin, Estibaliz, PhD, Arteta, David, PhD, Catarino, Susana, PhD, Aizpuru, Naiara, Martinez, Antonio, PhD, Tejedor, Diego, PhD, Stef, Marianne, PhD

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Genetic diagnosis of familial hypercholesterolaemia by targeted next‐generation sequencing von Maglio, C., Mancina, R. M., Motta, B. M., Stef, M., Pirazzi, C., Palacios, L., Askaryar, N., Borén, J., Wiklund, O., Romeo, S.

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Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia von Benito-Vicente, Asier, Uribe, Kepa B., Larrea-Sebal, Asier, Palacios, Lourdes, Cenarro, Ana, Calle, Xabier, Galicia-Garcia, Unai, Jebari-Benslaiman, Shifa, Sánchez-Hernández, Rosa M., Stef, Marianne, Lambert, Gilles, Civeira, Fernando, Martín, Cesar

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DNA Reference Reagents for Genotyping RH Variants von Sippert, Emilia, Volkova, Evgeniya, Rippee-Brooks, Meagan, Denomme, Gregory A., Flegel, Willy A., Lee, Christine, Araojo, Richardae, Illoh, Orieji, Liu, Zhugong, Rios, Maria, Arnoni, Carine Prisco, Latini, Flavia, da Silva, Flavia Sant’Anna, Vendrame, Tatiane Aparecida, Hyland, Catherine, Millard, Glenda, Liew, Yew-Wah, Teramura, Gayle, Harris, Samantha, Nakaya Fletcher, Shelley, Peyrard, Thierry, Poyot, Thomas, Martin-Blanc, Stephanie, Ochoa, Gorka, Westhoff, Connie, Vege, Sunitha, Denomme, Gregory A., Stef, Marianne A., Castilho, Lilian, dos Santos, Tamires Delfino, Piefer, Cindy, Bensing, Kathleen, Schanen, Michael, Scholz, Sabine, König, Sabrina, Bein, Gregor, Roeder, Lida, Sachs, Ulrich J., Wittig, Michael, Steiert, Tim A., Franke, Andre, Henny, Christine, Tani, Yoshihiko, Tanaka, Mitsunobu, Flegel, Willy A., Srivastava, Kshitij, Conceicao, Michelle, Resto, Claribel, Gannett, Michael Sel, Doescher, Andrea, Bub, Carolina Bonet, Aravechia, Maria Giselda, Costa, Thiago Henrique, Sirianni, Marilia Fernandes Mascarenhas, Santos, Leandro Dinalli

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Two new RHD alleles with deletions spanning multiple exons von Matteocci, Antonella, Monge‐Ruiz, Jorge, Stef, Marianne, Apraiz, Izaskun, Herrera‐del‐Val, Lara, Mancuso, Tommaso, Fennell, Katie, Lopez, Monica, Larizgoitia‐Martin, Yolanda, Nespoli, Guido, Rubia‐Tejero, Montserrat, Collaretti, Angela, Pierelli, Luca, Ochoa‐Garay, Gorka

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Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype–Genotype Relationship von Sánchez-Hernández, Rosa M, Civeira, Fernando, Stef, Marianne, Perez-Calahorra, Sofía, Almagro, Fátima, Plana, Nuria, Novoa, Francisco J, Sáenz-Aranzubía, Pedro, Mosquera, Daniel, Soler, Cristina, Fuentes, Francisco J, Brito-Casillas, Yeray, Real, Jose T, Blanco-Vaca, Francisco, Ascaso, Juan F, Pocovi, Miguel

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Functional characterization of LDL receptor missense variants located in the first cysteine-rich repeat in ligand binding domain of low density lipoprotein receptor von Siddiqi, Haziq, Benito, Asier, Jebari, Shifa, Etxebarria, Aitor, Uribe, Kepa, Galicia, Unai, Larrea, Asier, Palacios, Lourdes, Stef, Marianne, Ostalaza, Helena, Martin, Cesar

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Functional characterization of splicing and ligand-binding domain variants in the LDL receptor von Etxebarria, Aitor, Palacios, Lourdes, Stef, Marianne, Tejedor, Diego, Uribe, Kepa B., Oleaga, Amalia, Irigoyen, Luis, Torres, Beatriz, Ostolaza, Helena, Martin, Cesar

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The leucine stretch length of PCSK9 signal peptide and its role in development of autosomal dominant hypercholesterolaemia: Unravelling the activities of P.LEU23DEL and P.LEU22_LEU... von Garcia, Unai Galicia, Vicente, Asier Benito, Etxebarria, Aitor, Palacios, Lourdes, Cenarro, Ana, Calle, Xabi, Uribe, Kepa Belloso, Sánchez-Hernández, Rosa María, Stef, Marianne, Lambert, Gilles, Civeira, Fernando, Ostolaza, Helena, Martín, Cesar

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Abstract 13801: The p.Leu167del Mutation in APOE Gene causes Autosomal Dominant Hypercholesterolemia by Down-Regulation of LDL Receptor Expression in Hepatocytes von Cenarro, Ana, Martín, César, Stef, Marianne, de Castro-Orós, Isabel, Etxebarria, Aitor, Palacios, Lourdes, Mateo-Gallego, Rocío, Ostolaza, Helena, Tejedor, Teresa, Civeira, Fernando

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Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform von Alonso, Rodrigo, Defesche, Joep C., Tejedor, Diego, Castillo, Sergio, Stef, Marianne, Mata, Nelva, Gomez-Enterria, Pilar, Martinez-Faedo, Ceferino, Forga, Lluis, Mata, Pedro

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