检索结果 - Elisabet Ars

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  1. 1
    Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

    Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 由 Elisabet Ars

    出版 2000
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  2. 2
    Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

    Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients 由 Elisabet Ars

    出版 2003
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  3. 3
    Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

    Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports 由 Roser Torrá, Mónica Furlano, Alberto Ortíz, Elisabet Ars

    出版 2021
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  4. 4
    Diagnosis of autosomal dominant polycystic kidney disease using efficient <i>PKD1</i> and <i>PKD2</i> targeted next‐generation sequencing

    Diagnosis of autosomal dominant polycystic kidney disease using efficient <i>PKD1</i> and <i>PKD2</i> targeted next‐generation sequencing 由 Daniel Trujillano, Gemma Bullich, Stephan Ossowski, José Ballarín, Roser Torrá, Xavier Estivill, Elisabet Ars

    出版 2014
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  5. 5
    Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas

    Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas 由 Eduard Serra, Susana Puig, David Otero, Antonia Gaona, H. Kruyer, Elisabet Ars, Xavier Estivill, Conxi Lázaro

    出版 1997
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  6. 6
    Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease

    Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease 由 Roser Torrá, Joaquim Sàrquella, Jordi Calabia, Jordi MartiCombining Acute Accent, Elisabet Ars, Patricia Fernández‐Llama, José Ballarín

    出版 2008
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  7. 7
    HLA-DQA1 and PLA2R1 Polymorphisms and Risk of Idiopathic Membranous Nephropathy

    HLA-DQA1 and PLA2R1 Polymorphisms and Risk of Idiopathic Membranous Nephropathy 由 Gemma Bullich, José Ballarín, Artur Oliver, Nadia Ayasreh, Irene Silva, Sheila Santín, Montserrat Díaz-Encarnación, Roser Torrá, Elisabet Ars

    出版 2013
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  8. 8
    High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

    High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males 由 Csilla Krausz, Claudia Giachini, Deborah Lo Giacco, Fabrice Daguin, Chiara Chianese, Elisabet Ars, Eduard Ruiz‐Castañé, Gianni Forti, Elena Rossi

    出版 2012
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  9. 9
    Gene Expression Signature in Urine for Diagnosing and Assessing Aggressiveness of Bladder Urothelial Carcinoma

    Gene Expression Signature in Urine for Diagnosing and Assessing Aggressiveness of Bladder Urothelial Carcinoma 由 Lourdes Mengual, Moisès Burset, María J. Ribal, Elisabet Ars, Mercedes Marín‐Aguilera, M Garrido, Mercedes Ingelmo‐Torres, Humberto Villavicencio, Antonio Alcaraz

    出版 2010
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  10. 10
    Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome

    Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome 由 Sheila Santín, Gemma Bullich, Bárbara Tazón‐Vega, Rafael García‐Maset, Isabel Giménez, Irene Silva, Patricia Ruíz, José Ballarín, Roser Torrá, Elisabet Ars

    出版 2011
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  11. 11
    Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome

    Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome 由 Sheila Santín, Bárbara Tazón‐Vega, Irene Silva, María Ángeles Cobo, Isabel Giménez, Patricia Ruíz, Rafael García‐Maset, José Ballarín, Roser Torrá, Elisabet Ars

    出版 2010
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  12. 12
    Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

    Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity 由 Gemma Bullich, Daniel Trujillano, Sheila Santín, Stephan Ossowski, Santiago Mendizábal, Gloria Fraga, A. Madrid, Gema Ariceta, José Ballarín, Roser Torrá, Xavier Estivill, Elisabet Ars

    出版 2014
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  13. 13
    Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

    Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory 由 Deborah Lo Giacco, Chiara Chianese, Josvany Sánchez‐Curbelo, L. Bassas, Patricia Ruíz, Osvaldo Rajmil, Joaquim Sàrquella, Álvaro Vives, Eduard Ruiz‐Castañé, Rafael Oliva, Elisabet Ars, Csilla Krausz

    出版 2013
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  14. 14
    Digenic Alport Syndrome

    Digenic Alport Syndrome 由 Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, H. Rothe, Daniel P. Gale, Marina Aksenova, Agnė Čerkauskaitė, Olga Bielska, Beata S. Lipska‐Ziętkiewicz, Joel T. Gibson

    出版 2022
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  15. 15
    Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD

    Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD 由 Mihailo Vujic, Christina M. Heyer, Elisabet Ars, Katharina Hopp, Arseni Markoff, Charlotte Örndal, Bengt Rudenhed, Samih H. Nasr, Vicente E. Torres, Roser Torrá, Nadja Bogdanova, Peter C. Harris

    出版 2010
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  16. 16
    From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

    From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia 由 Csilla Krausz, Antoni Riera‐Escamilla, Chiara Chianese, Daniel Moreno‐Mendoza, Elisabet Ars, Osvaldo Rajmil, Roser Pujol, Massimo Bogliolo, Ignacio Blanco, Inés Rodríguez, Isabel Badell, Eduard Ruiz‐Castañé, Jordi Surrallés

    出版 2018
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  17. 17
    Expert consensus guidelines for the genetic diagnosis of Alport syndrome

    Expert consensus guidelines for the genetic diagnosis of Alport syndrome 由 Judy Savige, Francesca Ariani, Francesca Mari, Mirella Bruttini, Alessandra Renieri, Oliver Groß, Constantinos Deltas, Frances Flinter, Jie Ding, Daniel P. Gale, Mato Nagel, Michael Yau, Lev Shagam, Roser Torrá, Elisabet Ars, Julia Hoefele, Guido Garosi, Helen Storey

    出版 2018
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  18. 18
    X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

    X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations 由 Judy Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton V. Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torrá, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

    出版 2016
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  19. 19
    Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study

    Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study 由 Mónica Furlano, Víctor Martínez, Marc Pybus, Yolanda Arce, Jaume Crespí, María del Prado Venegas, Gemma Bullich, Andrea Domingo, Nadia Ayasreh, Silvia Benito, Laura Lorente, Patricia Ruíz, Vanesa López González, Rosa Arlandis, Elisa Cabello, Ferràn Torres, Lluís Guirado, Elisabet Ars, Roser Torrá

    出版 2021
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  20. 20
    Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome

    Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome 由 Hanna Dębiec, Claire Dossier, Éric Letouzé, Christopher E. Gillies, Marina Vivarelli, Rosemary Putler, Elisabet Ars, Evelyne Jacqz‐Aigrain, Valery Élie, Manuela Colucci, Stéphanie Debette, Philippe Amouyel, Siham Chafai Elalaoui, Abdelaziz Sefiani, Valérie Dubois, Tabassome Simon, Matthias Kretzler, José Ballarín, Francesco Emma, Matthew G. Sampson, Georges Deschênes, Pierre Ronco

    出版 2018
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