Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
Krausz, Csilla, Riera-Escamilla, Antoni, Moreno-Mendoza, Daniel, Holleman, Kaylee, Cioppi, Francesca, Algaba, Ferran, Pybus, Marc, Friedrich, Corinna, Wyrwoll, Margot J, Casamonti, Elena, Pietroforte, Sara, Nagirnaja, Liina, Lopes, Alexandra M, Kliesch, Sabine, Pilatz, Adrian, Carrell, Douglas T, Conrad, Donald F, Ars, Elisabet, Ruiz-Castañé, Eduard, Aston, Kenneth I, Baarends, Willy M, Tüttelmann, Frank
Published in Genetics in medicine (01.12.2020)
Published in Genetics in medicine (01.12.2020)
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Journal Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
Furlano, Mónica, Martínez, Victor, Pybus, Marc, Arce, Yolanda, Crespí, Jaume, Venegas, María del Prado, Bullich, Gemma, Domingo, Andrea, Ayasreh, Nadia, Benito, Silvia, Lorente, Laura, Ruíz, Patricia, Gonzalez, Vanesa López, Arlandis, Rosa, Cabello, Elisa, Torres, Ferran, Guirado, Lluis, Ars, Elisabet, Torra, Roser
Published in American journal of kidney diseases (01.10.2021)
Published in American journal of kidney diseases (01.10.2021)
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Journal Article
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
Domingo-Gallego, Andrea, Pybus, Marc, Bullich, Gemma, Furlano, Mónica, Ejarque-Vila, Laia, Lorente-Grandoso, Laura, Ruiz, Patricia, Fraga, Gloria, López González, Mercedes, Piñero-Fernández, Juan Alberto, Rodríguez-Peña, Lidia, Llano-Rivas, Isabel, Sáez, Raquel, Bujons-Tur, Anna, Ariceta, Gema, Guirado, Lluis, Torra, Roser, Ars, Elisabet
Published in Nephrology, dialysis, transplantation (25.03.2022)
Published in Nephrology, dialysis, transplantation (25.03.2022)
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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
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
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
Published in PloS one (14.09.2016)
Published in PloS one (14.09.2016)
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Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients
Ammar, Sawssan, Kanoun, Houda, Kammoun, Khawla, Domingo-Gallego, Andrea, Ruiz, Patricia, Lorente-Grandoso, Laura, Pybus, Marc, Maalej, Bayen, Boudawara, Tahya, Kamoun, Hassen, Ben Hmida, Mohamed, Ars, Elisabet, Jarraya, Faiçal
Published in Journal of human genetics (01.08.2021)
Published in Journal of human genetics (01.08.2021)
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Journal Article
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
Krausz, Csilla, Riera-Escamilla, Antoni, Chianese, Chiara, Moreno-Mendoza, Daniel, Ars, Elisabet, Rajmil, Osvaldo, Pujol, Roser, Bogliolo, Massimo, Blanco, Ignacio, Rodríguez, Ines, Badell, Isabel, Ruiz-Castañé, Eduard, Surrallés, Jordi
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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Journal Article
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome
Debiec, Hanna, Dossier, Claire, Letouzé, Eric, Gillies, Christopher E, Vivarelli, Marina, Putler, Rosemary K, Ars, Elisabet, Jacqz-Aigrain, Evelyne, Elie, Valery, Colucci, Manuela, Debette, Stéphanie, Amouyel, Philippe, Elalaoui, Siham C, Sefiani, Abdelaziz, Dubois, Valérie, Simon, Tabassome, Kretzler, Matthias, Ballarin, Jose, Emma, Francesco, Sampson, Matthew G, Deschênes, Georges, Ronco, Pierre
Published in Journal of the American Society of Nephrology (01.07.2018)
Published in Journal of the American Society of Nephrology (01.07.2018)
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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
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory
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
Published in European journal of human genetics : EJHG (01.06.2014)
Published in European journal of human genetics : EJHG (01.06.2014)
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Journal Article
Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD
VUJIC, Mihailo, HEYER, Christina M, BOGDANOVA, Nadja, HARRIS, Peter C, ARS, Elisabet, HOPP, Katharina, MARKOFF, Arseni, ÖRNDAL, Charlotte, RUDENHED, Bengt, NASR, Samih H, TORRES, Vicente E, TORRA, Roser
Published in Journal of the American Society of Nephrology (01.07.2010)
Published in Journal of the American Society of Nephrology (01.07.2010)
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Journal Article
High resolution X chromosome-specific array-CGH detects new CNVs in infertile males
Krausz, Csilla, Giachini, Claudia, Lo Giacco, Deborah, Daguin, Fabrice, Chianese, Chiara, Ars, Elisabet, Ruiz-Castane, Eduard, Forti, Gianni, Rossi, Elena
Published in PloS one (09.10.2012)
Published in PloS one (09.10.2012)
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Journal Article
gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study
Moreno-Mendoza, Daniel, Casamonti, Elena, Paoli, Donatella, Chianese, Chiara, Riera-Escamilla, Antoni, Giachini, Claudia, Fino, Maria Grazia, Cioppi, Francesca, Lotti, Francesco, Vinci, Serena, Magini, Angela, Ars, Elisabet, Sanchez-Curbelo, Josvany, Ruiz-Castane, Eduard, Lenzi, Andrea, Lombardo, Francesco, Krausz, Csilla
Published in European journal of human genetics : EJHG (01.10.2019)
Published in European journal of human genetics : EJHG (01.10.2019)
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Journal Article
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene
Fraga, Gloria, Herreros, M. Alba, Pybus, Marc, Aza-Carmona, Miriam, Pilco-Teran, Melissa, Furlano, Mónica, García-Borau, M. José, Torra, Roser, Ars, Elisabet
Published in Genes (01.06.2024)
Published in Genes (01.06.2024)
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Journal Article
Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study
Moreno-Mendoza, Daniel, Casamonti, Elena, Paoli, Donatella, Chianese, Chiara, Riera-Escamilla, Antoni, Giachini, Claudia, Fino, Maria Grazia, Cioppi, Francesca, Lotti, Francesco, Vinci, Serena, Magini, Angela, Ars, Elisabet, Sanchez-Curbelo, Josvany, Ruiz-Castane, Eduard, Lenzi, Andrea, Lombardo, Francesco, Krausz, Csilla
Published in European journal of human genetics : EJHG (01.10.2020)
Published in European journal of human genetics : EJHG (01.10.2020)
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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
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
Domingo-Gallego, Andrea, Furlano, Mónica, Pybus, Marc, Barraca, Daniel, Martínez, Ana Belén, Mora Muñoz, Emiliano, Torra, Roser, Ars, Elisabet
Published in BMC nephrology (11.04.2019)
Published in BMC nephrology (11.04.2019)
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Journal Article
X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance
Chianese, Chiara, Gunning, Adam C, Giachini, Claudia, Daguin, Fabrice, Balercia, Giancarlo, Ars, Elisabet, Lo Giacco, Deborah, Ruiz-Castañé, Eduard, Forti, Gianni, Krausz, Csilla
Published in PloS one (10.06.2014)
Published in PloS one (10.06.2014)
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