Search Results - "González-Tarancón Ricardo"

Prevalence of FLG loss‐of‐function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis by González‐Tarancón, Ricardo, Sanmartín, Rosalia, Lorente, Fabiola, Salvador‐Rupérez, Elvira, Hernández‐Martín, Angela, Rello, Luis, Puzo, Jose, Gilaberte, Yolanda

“…Background/Objectives Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, and is often associated with a personal or family history of…”
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A novel mutation in the SOX5 gene c.1627del; p. is associated to Lamb-Shaffer syndrome: a case report by Cuenca Alcocel, Jose, Criado Álamo, Elena, Salvador-Rupérez, Elvira, Goñi Ros, Nuria, Izquierdo Álvarez, Silvia, Peña Segura, Jose Luis, González-Tarancón, Ricardo

“…Background Lamb-Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene…”
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No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon by Goñi Ros, Nuria, Sienes Bailo, Paula, González Tarancón, Ricardo, Martorell Sampol, Loreto, Izquierdo Álvarez, Silvia

“…Myotonic dystrophy type 1 (DM1), also known as Steinert's disease, is a chronic, progressive and disabling multisystemic disorder with a broad spectrum of…”
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Spanish society of laboratory medicine external quality assurance programmes: evolution of the analytical performance of clinical laboratories over 30 years and comparison with other programmes by Perich, Carmen, Ricós, Carmen, Marqués, Fernando, Minchinela, Joana, Salas, Angel, Martínez-Bru, Cecilia, Boned, Beatriz, Gómez-Rioja, Rubén, Cortés, Marià, González-Lao, Elisabet, García Lario, Jose Vicente, Tejedor, Xavier, Bullich, Sandra, Ventura, Montserrat, González-Tarancón, Ricardo, Fernández-Fernández, Pilar, Ramón, Francisco, Corte, Zoraida, Llopis, Antonia Ma, Díaz-Garzón, Jorge, Simón, Margarita, Fernández-Calle, Pilar

“…The purpose of this study is to understand the evolution of the analytical performance of the laboratories participating in the Spanish society of laboratory…”
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Impact of implementing a category 1 external quality assurance scheme for monitoring harmonization of clinical laboratories in Spain by Ricós, Carmen, Fernández-Calle, Pilar, Marqués, Fernando, Minchinela, Joana, Salas, Ángel, Martínez-Bru, Cecília, Boned, Beatriz, Gómez-Rioja, Rubén, Cortés, Marià, González-Lao, Elisabet, García-Lario, J V, Tejedor-Ganduxé, Xavier, Bullich, Sandra, Ventura, Montse, Simón, Margarida, Vilaplana, Carlos, González-Tarancón, Ricardo, Fernández-Fernández, Mª Pilar, Ramón-Bauzá, Francisco, Corte, Zoraida, Llopis, Mª Antonia, Díaz-Garzón, Jorge, Perich, Carmen

“…The objective of the present study was to examine the evolution of the analytical performance specifications (APS) used in External Quality Assurance (EQA)…”
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HLA-DQA105 Was Not Associated With Primary Nonresponse or Loss of Response to First Anti-TNF in Real-World Inflammatory Bowel Disease Patients by Pascual-Oliver, Andrea, Casas-Deza, Diego, Cuarán, Camila, García-López, Santiago, Corsino-Roche, Pilar, Sierra-Moros, Eva, Olier-Martínez, Pilar, González-Tarancón, Ricardo, Vicente-Lidón, Raquel

“…We lack predictors of response to biologics in the management of patients with inflammatory bowel disease (IBD). A recent study has shown a significant…”
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Diversity of oncopharmacogenetic profile within Spanish population by Ferrer Bolufer, Irene, Galiana Vallés, Ximo, Izquierdo Álvarez, Silvia, Serrano Mira, Ana, Guzmán Luján, Carola, Safont Aguilera, María José, González Tarancón, Ricardo, Bolaños Naranjo, Matilde, Carrasco Salas, Pilar, Santamaría González, María, Rodríguez-López, Raquel

“…Consensus guidelines for genotype-guided fluoropyrimidine dosing based on variation in the dihydropyrimidine dehydrogenase (DPYD) gene before treatment have…”
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A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report by Conde-Rubio, Paula, García-Malinis, Ana Julia, Salvador-Rupérez, Elvira, Izquierdo Álvarez, Silvia, González-Tarancón, Ricardo

“…BackgroundGorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes…”
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A novel pathogenic variant in LCAT causing FLD. A case report by Goñi Ros, Nuria, González-Tarancón, Ricardo, Sienes Bailo, Paula, Salvador-Ruperez, Elvira, Puzo Bayod, Martín, Puzo Foncillas, José

“…Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase deficiency (FLD), also…”
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Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study by González-Tarancón, Ricardo, Goñi-Ros, Nuria, Salvador-Rupérez, Elvira, Hernández-Martín, Ángela, Izquierdo-Álvarez, Silvia, Puzo-Foncillas, José, Gilaberte-Calzada, Yolanda

“…Background:Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune…”
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Tamaño de repeticiones CTG no aumentado en la transmisión de un padre con alelo expandido: falsa sospecha de fenómeno de contracción by Goñi Ros, Nuria, Sienes Bailo, Paula, González Tarancón, Ricardo, Martorell Sampol, Loreto, Izquierdo Álvarez, Silvia

“…La distrofia miotónica tipo 1, conocida también como enfermedad de Steinert, es un desorden multisistémico crónico, degenerativo e incapacitante de…”
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Programas de garantía externa de la calidad SEQCML. Evolución de las prestaciones analíticas de los laboratorios clínicos a lo largo de 30 años y comparación con otros programas by Perich Alsina Carmen, Ricós Carmen, Marqués Fernando, Minchinela Joana, Salas Angel, Martínez-Bru Cecilia, Boned Beatriz, Gómez-Rioja Rubén, Cortés Marià, González-Lao Elisabet, García Lario Jose Vicente, Tejedor Xavier, Bullich Sandra, Ventura Montserrat, González-Tarancón Ricardo, Fernández-Fernández Pilar, Ramón Francisco, Corte Zoraida, Llopis Maria Antonia, Díaz-Garzón Jorge, Simón Margarita, Fernández-Calle Pilar

“…El objetivo de este estudio es conocer la evolución de la prestación analítica de los laboratorios participantes en los programas EQA de la SEQCML durante los…”
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Impacto de la introducción de un programa externo de categoría 1 en la vigilancia de la estandarización entre laboratorios clínicos en España by Ricós, Carmen, Fernández-Calle, Pilar, Marqués, Fernando, Minchinela, Joana, Salas, Ángel, Martínez-Bru, Cecília, Boned, Beatriz, Rioja, Rubén Gómez, Cortés, Marià, González-Lao, Elisabet, García Lario, J.V., Ganduxé, Xavier Tejedor, Bullich, Sandra, Ventura, Montse, Simón, Margarida, Vilaplana, Carlos, González-Tarancón, Ricardo, Fernández-Fernández, Mª Pilar, Bauzá, Francisco Ramón, Corte, Zoraida, Llopis, Mª Antonia, Díaz-Garzón, Jorge, Perich, Carmen

“…El objetivo de este estudio es comprobar la evolución de las especificaciones de la prestación analítica (EPA) utilizadas en programas de garantía externa de…”
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Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain by Abadía Molina, Claudia, Goñi Ros, Nuria, González Tarancón, Ricardo, Rello Varas, Luis, Recasens Flores, M. del Valle, Izquierdo Álvarez, Silvia

“…The main genetic cause of iron overload is haemochromatosis (HC). In recent years, the study of non-HFE genes (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6) has…”
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Hereditary hemochromatosis: An update vision of the laboratory diagnosis by Molina, Claudia Abadía, Ros, Nuria Goñi, Tarancón, Ricardo González, Varas, Luis Rello, Flores, Valle Recasens, Álvarez, Silvia Izquierdo

“…Haemochromatosis (HC) is an inherited disorder of iron metabolism. The 85–90% of Hereditary hemochromatosis cases are caused by mutations in HFE gene (HC type…”
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A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1GT, associated with Gorlin syndrome: a case report by Conde-Rubio, Paula, García-Malinis, Ana Julia, Salvador-Rupérez, Elvira, Izquierdo Álvarez, Silvia, González-Tarancón, Ricardo

“…Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes…”
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Detecting paraprotein interference on a direct bilirubin assay by reviewing the photometric reaction data by García-González, Elena, Aramendía, Maite, González-Tarancón, Ricardo, Romero-Sánchez, Naiara, Rello, Luis

“…The direct bilirubin (D-Bil) assay on the AU Beckman Coulter instrumentation can be interfered by paraproteins, which may result in spurious D-Bil results. In…”
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Analytical interference by monoclonal immunoglobulins on the direct bilirubin AU Beckman Coulter assay: the benefit of unsuspected diagnosis from spurious results by García-González, Elena, González-Tarancón, Ricardo, Aramendía, Maite, Rello, Luis

“…Monoclonal (M) components can interfere with the direct bilirubin (D-Bil) assay on the AU Beckman Coulter instrumentation and produce spurious results, such as…”
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Serum copper concentrations in hospitalized newborns by González-Tarancón, Ricardo, Calvo-Ruata, Luisa, Aramendía, Maite, Ortega, Carmen, García-González, Elena, Rello, Luis

“…Low serum Cu and ceruloplasmin (Cp) concentrations in newborns can be the first indication of a severe Cu deficient intake or, alternatively, of genetic…”
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Programas de garantía externa de la calidad SEQC ML . Evolución de las prestaciones analíticas de los laboratorios clínicos a lo largo de 30 años y comparación con otros programas by Perich Alsina, Carmen, Ricós, Carmen, Marqués, Fernando, Minchinela, Joana, Salas, Angel, Martínez-Bru, Cecilia, Boned, Beatriz, Gómez-Rioja, Rubén, Cortés, Marià, González-Lao, Elisabet, García Lario, Jose Vicente, Tejedor, Xavier, Bullich, Sandra, Ventura, Montserrat, González-Tarancón, Ricardo, Fernández-Fernández, Pilar, Ramón, Francisco, Corte, Zoraida, Llopis, Maria Antonia, Díaz-Garzón, Jorge, Simón, Margarita, Fernández-Calle, Pilar

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