Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

Por Ars, Elisabet, Serra, Eduard, de la Luna, Susana, Estivill, Xavier, Lázaro, Conxi
Publicado em 2000

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

Por Trujillano, Daniel, Bullich, Gemma, Ossowski, Stephan, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Publicado em 2014

Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease

Por Torra, Roser, Sarquella, Joaquim, Calabia, Jordi, Martí, Jordi, Ars, Elisabet, Fernández-Llama, Patricia, Ballarin, Jose
Publicado em 2008

Renal replacement therapy in ADPKD patients: a 25-year survey based on the Catalan registry

Por Martínez, Víctor, Comas, Jordi, Arcos, Emma, Díaz, Joan Manel, Muray, Salomé, Cabezuelo, Juan, Ballarín, José, Ars, Elisabet, Torra, Roser
Publicado em 2013

High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

Por Krausz, Csilla, Giachini, Claudia, Lo Giacco, Deborah, Daguin, Fabrice, Chianese, Chiara, Ars, Elisabet, Ruiz-Castane, Eduard, Forti, Gianni, Rossi, Elena
Publicado em 2012

HLA-DQA1 and PLA2R1 Polymorphisms and Risk of Idiopathic Membranous Nephropathy

Por Bullich, Gemma, Ballarín, José, Oliver, Artur, Ayasreh, Nadia, Silva, Irene, Santín, Sheila, Díaz-Encarnación, Montserrat M., Torra, Roser, Ars, Elisabet
Publicado em 2014

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

Por Cabrera-López, Cristina, Bullich, Gemma, Martí, Teresa, Català, Violeta, Ballarín, Jose, Bissler, John J., Harris, Peter C., Ars, Elisabet, Torra, Roser
Publicado no BMC Med Genet (2015)

Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome

Por Santín, Sheila, Bullich, Gemma, Tazón-Vega, Bárbara, García-Maset, Rafael, Giménez, Isabel, Silva, Irene, Ruíz, Patricia, Ballarín, José, Torra, Roser, Ars, Elisabet
Publicado em 2011

Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome

Por Santín, Sheila, Tazón-Vega, Bárbara, Silva, Irene, Cobo, María Ángeles, Giménez, Isabel, Ruíz, Patricia, García-Maset, Rafael, Ballarín, José, Torra, Roser, Ars, Elisabet
Publicado em 2011

X Chromosome-Linked CNVs in Male Infertility: Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance

Por Chianese, Chiara, Gunning, Adam C., Giachini, Claudia, Daguin, Fabrice, Balercia, Giancarlo, Ars, Elisabet, Giacco, Deborah Lo, Ruiz-Castañé, Eduard, Forti, Gianni, Krausz, Csilla
Publicado em 2014

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

Por Bullich, Gemma, Trujillano, Daniel, Santín, Sheila, Ossowski, Stephan, Mendizábal, Santiago, Fraga, Gloria, Madrid, Álvaro, Ariceta, Gema, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Publicado no Eur J Hum Genet (2015)

Are Sodium Transporters in Urinary Exosomes Reliable Markers of Tubular Sodium Reabsorption in Hypertensive Patients?

Por Esteva-Font, Cristina, Wang, Xiaoyan, Ars, Elisabet, Guillén-Gómez, Elena, Sans, Laia, González Saavedra, Isabel, Torres, Ferran, Torra, Roser, Masilamani, Shyama, Ballarín, José Aurelio, Fernández-Llama, Patricia
Publicado em 2010

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

Por Lo Giacco, Deborah, Chianese, Chiara, Sánchez-Curbelo, Josvany, Bassas, Lluis, Ruiz, Patricia, Rajmil, Osvaldo, Sarquella, Joaquim, Vives, Alvaro, Ruiz-Castañé, Eduard, Oliva, Rafael, Ars, Elisabet, Krausz, Csilla
Publicado em 2014

Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD

Por Vujic, Mihailo, Heyer, Christina M., Ars, Elisabet, Hopp, Katharina, Markoff, Arseni, Örndal, Charlotte, Rudenhed, Bengt, Nasr, Samih H., Torres, Vicente E., Torra, Roser, Bogdanova, Nadja, Harris, Peter C.
Publicado em 2010

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Por Savige, Judith, Storey, Helen, Il Cheong, Hae, Gyung Kang, Hee, Park, Eujin, Hilbert, Pascale, Persikov, Anton, Torres-Fernandez, Carmen, Ars, Elisabet, Torra, Roser, Hertz, Jens Michael, Thomassen, Mads, Shagam, Lev, Wang, Dongmao, Wang, Yanyan, Flinter, Frances, Nagel, Mato
Publicado no PLoS One (2016)

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Por Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A., Sadowski, Carolin E., Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H., Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P., Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan E., Midgley, Julian P., Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S., Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R., Connolly, Anne M., Willing, Marcia C., Cooper, Megan A., Lifton, Richard P., Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D., Hildebrandt, Friedhelm
Publicado no J Clin Invest (2017)