Search Results - "Ars, E."

EP06.20: Role of next‐generation‐sequencing in the etiological diagnosis of prenatal bilateral renal agenesis by Borobio, V., Pérez‐Cruz, M., Ars, E., Rodriguez‐Revenga, L., Borrell, A.

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EP26.24: The etiology of fetal renal dysplasias investigated by means of a prenatal CAKUT targeted NGS gene panel by Borobio, V., Pérez‐Cruz, M., Pauta, M., Martínez, J., Ars, E., Borrell, A.

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Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility by Lo Giacco, D, Chianese, C, Ars, E, Ruiz-Castañé, E, Forti, G, Krausz, C

“…The role of X-linked genes and copy-number variations (CNVs) in male infertility remains poorly explored. Our previous array-CGH analyses showed three…”
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Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients by Ars, E, Kruyer, H, Morell, M, Pros, E, Serra, E, Ravella, A, Estivill, X, Lázaro, C

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Early Macrophage Infiltration and Sustained Inflammation in Kidneys From Deceased Donors Are Associated With Long‐Term Renal Function by Guillén‐Gómez, E., Dasilva, I., Silva, I., Arce, Y., Facundo, C., Ars, E., Breda, A., Ortiz, A., Guirado, L., Ballarín, J. A., Díaz‐Encarnación, M. M.

“…Kidney transplants from living donors (LDs) have a better outcome than those from deceased donors (DDs). Different factors have been suggested to justify the…”
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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 by ARS, E, SERRA, E, GARCIA, J, KRUYER, H, GAONA, A, LAZARO, C, ESTIVILL, X

“…Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in humans and is caused by mutations in the NF1 gene. To date, the majority of the…”
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Y-chromosome microdeletions are not associated with SHOX haploinsufficiency by Chianese, C., Lo Giacco, D., Tüttelmann, F., Ferlin, A., Ntostis, P., Vinci, S., Balercia, G., Ars, E., Ruiz-Castañé, E., Giglio, S., Forti, G., Kliesch, S., Krausz, C.

“…STUDY QUESTION Are Y-chromosome microdeletions associated with SHOX haploinsufficiency, thus representing a risk of skeletal anomalies for the carriers and…”
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Monocyte implication in renal allograft dysfunction by Guillén‐Gómez, E., Guirado, L., Belmonte, X., Maderuelo, A., Santín, S., Juarez, C., Ars, E., Facundo, C., Ballarín, J. A., Vidal, S., Díaz‐Encarnación, M. M.

“…Summary Macrophages are involved in the development and progression of kidney fibrosis. The aim of this study was to analyse the phenotype of circulating…”
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Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia by Chianese, C., Fino, M. G., Riera Escamilla, A., López Rodrigo, O., Vinci, S., Guarducci, E., Daguin, F., Muratori, M., Tamburrino, L., Lo Giacco, D., Ars, E., Bassas, L., Costa, M., Pisatauro, V., Noci, I., Coccia, E., Provenzano, A., Ruiz‐Castañé, E., Giglio, S., Piomboni, P., Krausz, C.

“…Summary The aim of this study was to provide a comprehensive genetic/phenotypic characterization of subjects suffering infertility owing to sperm macrocephaly…”
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Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency by Krausz, C, Chianese, C, Lo Giacco, D, Tüttelmann, F, Ferlin, A, Ntostis, P, Vinci, S, Balercia, G, Ars, E, Ruiz-Castañé, E, Giglio, S, Kliesch, S, Forti, G

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Collagen type IV (α3–α4) nephropathy: from isolated haematuria to renal failure by Torra, Roser, Tazón-Vega, Bárbara, Ars, Elisabet, Ballarín, José

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Gene expression profiles in prostate cancer: identification of candidate non-invasive diagnostic markers by Mengual, L, Ars, E, Lozano, J J, Burset, M, Izquierdo, L, Ingelmo-Torres, M, Gaya, J M, Algaba, F, Villavicencio, H, Ribal, M J, Alcaraz, A

“…To analyze gene expression profiles of prostate cancer (PCa) with the aim of determining the relevant differentially expressed genes and subsequently ascertain…”
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Molecular Staging of Bladder Cancer with RT-PCR Assay for CK20 in Peripheral Blood, Bone Marrow and Lymph Nodes: Comparison with Standard Histological Staging by RIBAL, M. J, MENGUAL, L, MARIN, M, ALGABA, F, ARS, E, FERNANDEZ, P. L, OLIVA, R, VILLAVICENCIO, H, ALCARAZ, A

“…Background: The aim of this study was to analyze whether the CK20 reverse transcriptase polymerase chain reaction (RT-PCR) is suitable for detecting…”
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Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations by SERRA, E, ARS, E, RAVELLA, A, SANCHEZ, A, PUIG, S, ROSENBAUM, T, ESTIVILL, X, LAZARO, C

“…Neurofibromas, benign tumors that originate from the peripheral nerve sheath, are a hallmark of neurofibromatosis type 1 (NF1). Although loss of heterozygosity…”
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WT1 mutations may be a cause of severe renal failure due to nephroblastomatosis in Wilms' tumor patients by Santín, S, Fraga, G, Ruíz, P, Pardo, N, Torrent, M, Martí, T, Ballarín, J, Ars, E, Torra, R

“…Wilms' tumor suppressor gene (WT1) encodes a transcription factor required for normal development of the genitourinary system. Germline WT1 mutations have been…”
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Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy by Torra, R, Algaba, F, Ars, E, Santin, S, Fernández-Llama, P, Ballarin, J

“…Fabry disease is an X-linked recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal enzyme,…”
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Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations by Ars, E., Lo Giacco, D., Bassas, L., Nuti, F., Rajmil, O., Ruíz, P., Garat, J. M., Ruiz-Castané, E., Krausz, C.

“…Summary The aetiopathogenesis of isolated cryptorchidism remains largely unknown. Mutation screenings in the most relevant candidate genes for testicular…”
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Gene expression profiles in prostate cancer: Identification of candidate non-invasive diagnostic markers by Mengual, L, Ars, E, Lozano, J.J, Burset, M, Izquierdo, L, Ingelmo-Torres, M, Gaya, J.M, Algaba, F, Villavicencio, H, Ribal, M.J, Alcaraz, A

“…Abstract Objective To analyze gene expression profiles of prostate cancer (PCa) with the aim of determining the relevant differentially expressed genes and…”
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Molecular diagnosis of autosomal dominant polycystic kidney disease by Torra Balcells, R, Ars Criach, E

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder. Its estimated prevalence is 1 per 800 individuals. ADPKD…”
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Abstracts of the 34th World Congress on Ultrasound in Obstetrics and Gynecology, 15-18 September 2024, Budapest, Hungary by Borobio, V, Pérez-Cruz, M, Ars, E, Rodriguez-Revenga, L, Borrell, A

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