Search Results - "Lopez‐Molina, Maria"

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice by Sanchez-Alcudia, Rocio, Garcia-Hoyos, Maria, Lopez-Martinez, Miguel Angel, Sanchez-Bolivar, Noelia, Zurita, Olga, Gimenez, Ascension, Villaverde, Cristina, Rodrigues-Jacy da Silva, Luciana, Corton, Marta, Perez-Carro, Raquel, Torriano, Simona, Kalatzis, Vasiliki, Rivolta, Carlo, Avila-Fernandez, Almudena, Lorda, Isabel, Trujillo-Tiebas, Maria J, Garcia-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Ayuso, Carmen

“…Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the…”
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Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families by Fernandez‐San Jose, Patricia, Blanco‐Kelly, Fiona, Corton, Marta, Trujillo‐Tiebas, Maria‐Jose, Gimenez, Ascension, Avila‐Fernandez, Almudena, Garcia‐Sandoval, Blanca, Lopez‐Molina, Maria‐Isabel, Hernan, Inma, Carballo, Miguel, Riveiro‐Alvarez, Rosa, Ayuso, Carmen

“…Purpose We aimed to determine the prevalence of mutations in the RHO gene in Spanish families with autosomal dominant Retinitis Pigmentosa (adRP), to assess…”
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Platelet satellitism around lymphocytes: Case report and literature review by Lopez‐Molina, Maria, Sorigue, Marc, Martinez‐Iribarren, Alicia, Orna Montero, Elisa, Tejedor Ganduxé, Xavier, Leis Sestayo, Alba, Sala Sanjaume, Maria Angels, Llopis Díaz, Maria‐Antonia, Morales‐Indiano, Cristian

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Stroke as a rare complication of scorpion stings: A systematic review and analysis by Vasconez-Gonzalez, Jorge, Delgado-Moreira, Karen, Gamez-Rivera, Esteban, Lopez-Molina, María Belen, Davila, Fredy Lizarazo, Izquierdo-Condoy, Juan S., Ortiz-Prado, Esteban

“…Approximately 1 million scorpion stings are recorded annually worldwide, resulting in 3000 deaths. Scorpion venom has various effects on the human body, with…”
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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases by Blanco-Kelly, Fiona, García Hoyos, María, Lopez Martinez, Miguel Angel, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Fernandez-San Jose, Patricia, Avila-Fernandez, Almudena, Corton, Marta, Millan, Jose M, García Sandoval, Blanca, Ayuso, Carmen

“…This research is the single largest NR2E3 genotype-phenotype correlation study performed to date in autosomal dominant Retinitis Pigmentosa. The aim of this…”
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Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies by Riveiro-Alvarez, Rosa, PhD, Lopez-Martinez, Miguel-Angel, SLT, Zernant, Jana, MSc, Aguirre-Lamban, Jana, PhD, Cantalapiedra, Diego, BSc, Avila-Fernandez, Almudena, PhD, Gimenez, Ascension, SLT, Lopez-Molina, Maria-Isabel, MD, Garcia-Sandoval, Blanca, MD, PhD, Blanco-Kelly, Fiona, MD, PhD, Corton, Marta, PhD, Tatu, Sorina, BSc, Fernandez-San Jose, Patricia, BSc, Trujillo-Tiebas, Maria-Jose, PhD, Ramos, Carmen, PhD, Allikmets, Rando, PhD, Ayuso, Carmen, MD, PhD

“…Objective To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders,…”
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Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population by Corton, Marta, PhD, Avila-Fernandez, Almudena, PhD, Vallespín, Elena, PhD, López-Molina, María Isabel, MD, Almoguera, Berta, PhD, Martín-Garrido, Esther, BSc, Tatu, Sorina D., MSc, Khan, M. Imran, PhD, Blanco-Kelly, Fiona, MD, PhD, Riveiro-Alvarez, Rosa, PhD, Brión, María, PhD, García-Sandoval, Blanca, MD, PhD, Cremers, Frans P.M., PhD, Carracedo, Angel, MD, PhD, Ayuso, Carmen, MD, PhD

“…Objective We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describe the…”
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On flattening filter‐free portal dosimetry by Pardo, Eduardo, Novais, Juan Castro, Molina López, María Yolanda, Maqueda, Sheila Ruiz

“…Varian introduced (in 2010) the option of removing the flattening filter (FF) in their C‐Arm linacs for intensity‐modulated treatments. This mode, called…”
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New approaches for screening grape seed peptides as colourimetric modulators by malvidin-3-O-glucoside stabilisation by López-Molina, María Fernanda, Rodríguez-Pulido, Francisco J., Mora-Garrido, Ana Belén, González-Miret, M. Lourdes, Heredia, Francisco J.

“…The colour of red wine is due to the presence of anthocyanins and their derived pigments, with malvidin-3-O-glucoside being the most predominant. Due to their…”
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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families by Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Zernant, Jana, Aguirre-Lamban, Jana, Cantalapiedra, Diego, Avila-Fernandez, Almudena, Gimenez, Ascension, Lopez-Molina, Maria-Isabel, Garcia-Sandoval, Blanca, Blanco-Kelly, Fiona, Corton, Marta, Tatu, Sorina, Fernandez-San Jose, Patricia, Trujillo-Tiebas, Maria-Jose, Ramos, Carmen, Allikmets, Rando, Ayuso, Carmen

“…To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including…”
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MLC performance prognosis using a degradation model based on trajectory log data from a daily test by Calama‐Santiago, Juan Agustín, Molina‐Lopez, María Yolanda, Infante‐Utrilla, Miguel Ángel, Lavado‐Rodríguez, María Elisa

“…Purpose This paper investigates the feasibility of implementing a predictive maintenance program for a multileaf collimator (MLC) based on data collected in…”
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Multicolor Imaging for the Detection of Inner Nuclear Layer Microcysts Secondary to Optic Nerve Atrophy by Jimenez-Rolando, Belen, Carreño, Ester, Alonso-Peralta, Miguel A., Lopez-Molina, Maria I., Fernandez-Sanz, Guillermo

“…Inner nuclear layer (INL) microcysts have been reported in diseases affecting the optic nerve. The new ocular imaging techniques detect minimal structural…”
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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies by Sanchez-Navarro, Iker, R. J. da Silva, Luciana, Blanco-Kelly, Fiona, Zurita, Olga, Sanchez-Bolivar, Noelia, Villaverde, Cristina, Lopez-Molina, Maria Isabel, Garcia-Sandoval, Blanca, Tahsin-Swafiri, Saoud, Minguez, Pablo, Riveiro-Alvarez, Rosa, Lorda, Isabel, Sanchez-Alcudia, Rocío, Perez-Carro, Raquel, Valverde, Diana, Liu, Yichuan, Tian, Lifeng, Hakonarson, Hakon, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

“…Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal…”
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Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations by Avila-Fernandez, Almudena, Perez-Carro, Raquel, Corton, Marta, Lopez-Molina, Maria Isabel, Campello, Laura, Garanto, Alejandro, Fernandez-Sanchez, Laura, Duijkers, Lonneke, Lopez-Martinez, Miguel Angel, Riveiro-Alvarez, Rosa, Da Silva, Luciana Rodrigues Jacy, Sanchez-Alcudia, Rocío, Martin-Garrido, Esther, Reyes, Noelia, Garcia-Garcia, Francisco, Dopazo, Joaquin, Garcia-Sandoval, Blanca, Collin, Rob W J, Cuenca, Nicolas, Ayuso, Carmen

“…Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies that cause visual impairment as a result of photoreceptor cell death. RP is…”
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Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy by Nikopoulos, Konstantinos, Avila-Fernandez, Almudena, Corton, Marta, Lopez-Molina, Maria Isabel, Perez-Carro, Raquel, Bontadelli, Lara, Di Gioia, Silvio Alessandro, Zurita, Olga, Garcia-Sandoval, Blanca, Rivolta, Carlo, Ayuso, Carmen

“…Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients’ molecular and clinical diagnoses. In…”
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Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy by Almoguera, Berta, He, Sijie, Corton, Marta, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Del Val, Javier, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Torres, Rosa J, Puig, Juan G, Hakonarson, Hakon, Xu, Xun, Keating, Brendan, Ayuso, Carmen

“…Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different…”
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Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration by Nishiguchi, Koji M, Avila-Fernandez, Almudena, van Huet, Ramon A C, Corton, Marta, Pérez-Carro, Raquel, Martín-Garrido, Esther, López-Molina, María Isabel, Blanco-Kelly, Fiona, Hoefsloot, Lies H, van Zelst-Stams, Wendy A, García-Ruiz, Pedro J, Del Val, Javier, Di Gioia, Silvio Alessandro, Klevering, B Jeroen, van de Warrenburg, Bart P C, Vazquez, Carlos, Cremers, Frans P M, García-Sandoval, Blanca, Hoyng, Carel B, Collin, Rob W J, Rivolta, Carlo, Ayuso, Carmen

“…To identify the genetic causes underlying autosomal recessive retinitis pigmentosa (arRP) and to describe the associated phenotype. Case series. Three hundred…”
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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned by Almoguera, Berta, Li, Jiankang, Fernandez-San Jose, Patricia, Liu, Yichuan, March, Michael, Pellegrino, Renata, Golhar, Ryan, Corton, Marta, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Zhang, Jianguo, Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Ayuso, Carmen

“…This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families…”
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The Spanish Network of Agencies for Health Technology Assessment and Services of the National Health System (RedETS) by Serrano-Aguilar, Pedro, Asua-Batarrita, José, Molina-López, María Teresa, Espallargues, Mireia, Pons-Rafols, Joan, García-Armesto, Sandra, Arriola-Bolado, Paloma, López-García, Marisa, Faraldo-Vallés, María José, Sánchez-Gómez, Luis María, Juárez-Rojo, Celia, Prieto-Yerro, Isabel, Casado-Durández, Paloma, Sarria-Santamera, Antonio

“…Earlier activities on health technology assessment (HTA) started in Spain around 1984, with the creation of a National Advisory Board on HTA, and the…”
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Hypofractionated whole breast IMRT with HDR brachytherapy boost in early-stage breast cancer: Long-term results from a single-center by Díaz-Gavela, Ana Aurora, Cerro Peñalver, Elia Del, Sanchez-Garcia, Sofía, Pardo-Perez, Eduardo, Thuissard-Vasallo, Israel John, Andreu-Vázquez, Cristina, Molina López, María Yolanda, Pena Huertas, Marina, Guerrero-Gómez, Luis Leonardo, Sanz-Rosa, David, Lorenzo, Felipe Counago

“…The addition of a boost to the lumpectomy bed after whole-breast (WB) radiotherapy plays a key role in the treatment of patients with breast cancer (BC). The…”
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