A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard
Published in Scientific reports (04.01.2017)
Published in Scientific reports (04.01.2017)
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Journal Article
Draft Genome Sequences of Mycobacterium setense Type Strain DSM-45070 and the Nonpathogenic Strain Manresensis, Isolated from the Bank of the Cardener River in Manresa, Catalonia, Spain
Rech, Gabriel, Vilaplana, Cristina, Velasco, Juan, Pluvinet, Raquel, Santín, Sheila, Prat, Cristina, Julián, Esther, Alcaide, Fernando, Comas, Iñaki, Sumoy, Lauro, Cardona, Pere-Joan
Published in Genome announcements (Washington, DC) (05.02.2015)
Published in Genome announcements (Washington, DC) (05.02.2015)
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Journal Article
Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
Santín, Sheila, Bullich, Gemma, Tazón-Vega, Bárbara, García-Maset, Rafael, Giménez, Isabel, Silva, Irene, Ruíz, Patricia, Ballarín, José, Torra, Roser, Ars, Elisabet
Published in Clinical journal of the American Society of Nephrology (01.05.2011)
Published in Clinical journal of the American Society of Nephrology (01.05.2011)
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Journal Article
Very low-molecular-mass fragments of albumin in the plasma of patients with focal segmental glomerulosclerosis
Hellin, Joan Lopez, Bech-Serra, Joan J, Moctezuma, Enrique Lara, Chocron, Sara, Santin, Sheila, Madrid, Alvaro, Vilalta, Ramon, Canals, Francesc, Torra, Roser, Meseguer, Anna, Nieto, Jose L
Published in American journal of kidney diseases (01.11.2009)
Published in American journal of kidney diseases (01.11.2009)
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Journal Article
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
Bullich, Gemma, Trujillano, Daniel, Santín, Sheila, Ossowski, Stephan, Mendizábal, Santiago, Fraga, Gloria, Madrid, Álvaro, Ariceta, Gema, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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Journal Article
HLA-DQA1 and PLA2R1 Polymorphisms and Risk of Idiopathic Membranous Nephropathy
Gemma Bullich, José Ballarín, Artur Oliver, Nadia Ayasreh, Irene Silva, Sheila Santín, Montserrat M. Díaz-Encarnación, Roser Torra, Elisabet Ars
Published in Clinical journal of the American Society of Nephrology (01.02.2014)
Published in Clinical journal of the American Society of Nephrology (01.02.2014)
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Journal Article
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis
Santín, Sheila, García-Maset, Rafael, Ruíz, Patricia, Giménez, Isabel, Zamora, Isabel, Peña, Antonia, Madrid, Álvaro, Camacho, Juan A., Fraga, Gloria, Sánchez-Moreno, Ana, Cobo, Maria Ángeles, Bernis, Carmen, Ortiz, Alberto, de Pablos, Augusto Luque, Pintos, Guillem, Justa, Maria Luisa, Hidalgo-Barquero, Emilia, Fernández-Llama, Patricia, Ballarín, José, Ars, Elisabet, Torra, Roser, on behalf of the FSGS Spanish Study Group
Published in Kidney international (01.12.2009)
Published in Kidney international (01.12.2009)
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Journal Article
Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome
Sheila Santín, Bárbara Tazón-Vega, Irene Silva, María Ángeles Cobo, Isabel Giménez, Patricia Ruíz, Rafael García-Maset, José Ballarín, Roser Torra, Elisabet Ars
Published in Clinical journal of the American Society of Nephrology (01.02.2011)
Published in Clinical journal of the American Society of Nephrology (01.02.2011)
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Journal Article
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis
Santín, Sheila, Ars, Elisabet, Rossetti, Sandro, Salido, Eduardo, Silva, Irene, García-Maset, Rafael, Giménez, Isabel, Ruíz, Patricia, Mendizábal, Santiago, Luciano Nieto, José, Peña, Antonia, Camacho, Juan Antonio, Fraga, Gloria, Cobo, Mª Ángeles, Bernis, Carmen, Ortiz, Alberto, de Pablos, Augusto Luque, Sánchez-Moreno, Ana, Pintos, Guillem, Mirapeix, Eduard, Fernández-Llama, Patricia, Ballarín, José, Torra, Roser
Published in Nephrology, dialysis, transplantation (01.10.2009)
Published in Nephrology, dialysis, transplantation (01.10.2009)
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Journal Article
Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples
Tazón-Vega, Bárbara, Ars, Elisabet, Burset, Moisès, Santín, Sheila, Ruíz, Patricia, Fernández-Llama, Patricia, Ballarín, José, Torra, Roser
Published in American journal of kidney diseases (01.08.2007)
Published in American journal of kidney diseases (01.08.2007)
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Journal Article
Nephrin mutations cause childhood- and adult-onset focal segmental glomeruloscierosis
SANTIN, Sheila, GARCIA-MASET, Rafael, COBO, Maria Angeles, BERNIS, Carmen, ORTIZ, Alberto, LUQUE DE PABLOS, Augusto, PINIOS, Guillem, JUSIA, Maria Luisa, HIDALGO-BARQUERO, Emilia, FERNANDEZ-LLAMA, Patricia, BALLARIN, José, ARS, Elisabet, RUIZ, Patricia, TORRA, Roser, GIMENEZ, Isabel, ZAMORA, Isabel, PENA, Antonia, MADRID, Alvaro, CAMACHO, Juan A, FRAGA, Gloria, SINCHEZ-MORENO, Ana
Published in Kidney international (2009)
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Published in Kidney international (2009)
Journal Article
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, Valle, Jesús del, Perucho, Manuel, Blanco Guillermo, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda Riu, Marta, Feliubadaló i Elorza, Maria Lídia, Capellá, G. (Gabriel), Lázaro García, Conxi, Serra, Eduard
Published in Scientific reports (04.01.2017)
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Published in Scientific reports (04.01.2017)
Journal Article
Draft genome sequences of Mycobacterium setense type strain DSM-45070 and the nonpathogenic strain Manresensis, isolated from the bank of the Cardener River in Manresa, Catalonia, Spain
Rech, Gabriel, Vilaplana, Cristina, Velasco, Juan, Pluvinet, Raquel, Santín, Sheila, Prat, Cristina, Julián, Esther, Alcaide Fernández de Vega, Fernando, Comas, Iñaqui, Sumoy, Lauro, Cardona, Pere Joan
Published in Genome announcements (Washington, DC) (05.02.2015)
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Published in Genome announcements (Washington, DC) (05.02.2015)
Journal Article