Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort
Carrizosa-Molina, Tamara, Casillas-Díaz, Natalia, Pérez-Nadador, Iris, Vales-Villamarín, Claudia, López-Martínez, Miguel Ángel, Riveiro-Álvarez, Rosa, Wilhelm, Larry, Cervera-Juanes, Rita, Garcés, Carmen, Lomniczi, Alejandro, Soriano-Guillén, Leandro
Published in Clinical epigenetics (13.12.2023)
Published in Clinical epigenetics (13.12.2023)
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Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty
Ortiz-Cabrera, Nelmar Valentina, Riveiro-Álvarez, Rosa, López-Martínez, Miguel Ángel, Pérez-Segura, Pilar, Aragón-Gómez, Isabel, Trujillo-Tiebas, María José, Soriano-Guillén, Leandro
Published in Hormone research in paediatrics (01.01.2017)
Published in Hormone research in paediatrics (01.01.2017)
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Autonomous Activist-Research. The case of the squatters' movement in Madrid
Martinez Lopez, Miguel Angel, Fernandez, Elisabeth Lorenzi
Published in Revista internacional de sociología (01.12.2012)
Published in Revista internacional de sociología (01.12.2012)
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New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy
Riveiro-Álvarez, Rosa, Xie, Yajing Angela, López-Martínez, Miguel-Ángel, Gambin, Tomasz, Pérez-Carro, Raquel, Ávila-Fernández, Almudena, López-Molina, María-Isabel, Zernant, Jana, Jhangiani, Shalini, Muzny, Donna, Yuan, Bo, Boerwinkle, Eric, Gibbs, Richard, Lupski, James R, Ayuso, Carmen, Allikmets, Rando
Published in JAMA ophthalmology (01.02.2015)
Published in JAMA ophthalmology (01.02.2015)
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Journal Article
Analysis of the ABCA4 genomic locus in Stargardt disease
Zernant, Jana, Xie, Yajing Angela, Ayuso, Carmen, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Simonelli, Francesca, Testa, Francesco, Gorin, Michael B, Strom, Samuel P, Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M, Yuan, Bo, Ayyagari, Radha, Nagy, Peter L, Tsang, Stephen H, Gouras, Peter, Collison, Frederick T, Lupski, James R, Fishman, Gerald A, Allikmets, Rando
Published in Human molecular genetics (20.12.2014)
Published in Human molecular genetics (20.12.2014)
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Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
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
Published in Ophthalmology (Rochester, Minn.) (01.11.2013)
Published in Ophthalmology (Rochester, Minn.) (01.11.2013)
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Journal Article
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families
Sánchez-Alcudia, Rocío, Cortón, Marta, Ávila-Fernández, Almudena, Zurita, Olga, Tatu, Sorina D, Pérez-Carro, Raquel, Fernandez-San Jose, Patricia, Lopez-Martinez, Miguel Ángel, del Castillo, Francisco J, Millan, Jose M, Blanco-Kelly, Fiona, García-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Riveiro-Alvarez, Rosa, Ayuso, Carmen
Published in Investigative ophthalmology & visual science (23.10.2014)
Published in Investigative ophthalmology & visual science (23.10.2014)
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Investigación activista autónoma. El caso del movimiento de okupaciones de Madrid
Miguel Ángel Martínez López, Elísabeth Lorenzi Fernández
Published in Revista internacional de sociología (01.12.2012)
Published in Revista internacional de sociología (01.12.2012)
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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families
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
Published in Ophthalmology (Rochester, Minn.) (01.11.2013)
Published in Ophthalmology (Rochester, Minn.) (01.11.2013)
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The microbiology of sepsis is more than the application of new technologies in diagnosis
Larrosa Escartín, M N, Martínez-López, M A, Nadal-Barón, P
Published in Revista española de quimioterapia (01.11.2023)
Published in Revista española de quimioterapia (01.11.2023)
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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
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
Published in PloS one (12.04.2016)
Published in PloS one (12.04.2016)
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Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients
Fernandez-San Jose, Patricia, Corton, Marta, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Lopez-Martinez, Miguel Angel, Sanchez-Navarro, Iker, Sanchez-Alcudia, Rocio, Perez-Carro, Raquel, Zurita, Olga, Sanchez-Bolivar, Noelia, Lopez-Molina, Maria Isabel, Garcia-Sandoval, Blanca, Riveiro-Alvarez, Rosa, Ayuso, Carmen
Published in Investigative ophthalmology & visual science (01.04.2015)
Published in Investigative ophthalmology & visual science (01.04.2015)
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Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations
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
Published in Human molecular genetics (15.07.2015)
Published in Human molecular genetics (15.07.2015)
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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H., Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Mª Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Published in Scientific reports (25.01.2016)
Published in Scientific reports (25.01.2016)
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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
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
Published in PloS one (24.02.2016)
Published in PloS one (24.02.2016)
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Journal Article
Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray
Vallespin, Elena, Cantalapiedra, Diego, Riveiro-Alvarez, Rosa, Wilke, Robert, Aguirre-Lamban, Jana, Avila-Fernandez, Almudena, Lopez-Martinez, Miguel Angel, Gimenez, Ascension, Jose Trujillo-Tiebas, Maria, Ramos, Carmen, Ayuso, Carmen
Published in Investigative ophthalmology & visual science (01.12.2007)
Published in Investigative ophthalmology & visual science (01.12.2007)
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Journal Article
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
Blanco-Kelly, Fiona, Rodrigues-Jacy da Silva, Luciana, Sanchez-Navarro, Iker, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Corton, Marta, Ayuso, Carmen
Published in BMC medical genetics (07.01.2017)
Published in BMC medical genetics (07.01.2017)
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Journal Article
Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis
Riveiro-Alvarez, Rosa, Trujillo-Tiebas, Maria-Jose, Gimenez-Pardo, Ascension, Garcia-Hoyos, Maria, Lopez-Martinez, Miguel-Angel, Aguirre-Lamban, Jana, Garcia-Sandoval, Blanca, Vazquez-Fernandez del Pozo, Silvia, Cantalapiedra, Diego, Avila-Fernandez, Almudena, Baiget, Montserrat, Ramos, Carmen, Ayuso, Carmen
Published in Investigative ophthalmology & visual science (01.09.2009)
Published in Investigative ophthalmology & visual science (01.09.2009)
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Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies
Garcia-Hoyos, Maria, Auz-Alexandre, Carmen Laura, Almoguera, Berta, Cantalapiedra, Diego, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Gimenez, Ascension, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Trujillo-Tiebas, Maria Jose, Garcia-Sandoval, Blanca, Ramos, Carmen, Ayuso, Carmen
Published in Molecular vision (29.04.2011)
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Published in Molecular vision (29.04.2011)
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