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Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1661, doi. 10.3390/ijms24021661
By:
- de la Fuente, Lorena;
- Del Pozo-Valero, Marta;
- Perea-Romero, Irene;
- Blanco-Kelly, Fiona;
- Fernández-Caballero, Lidia;
- Cortón, Marta;
- Ayuso, Carmen;
- Mínguez, Pablo
Publication type:
Article
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8431, doi. 10.3390/ijms23158431
By:
- Iancu, Ionut-Florin;
- Perea-Romero, Irene;
- Núñez-Moreno, Gonzalo;
- de la Fuente, Lorena;
- Romero, Raquel;
- Ávila-Fernandez, Almudena;
- Trujillo-Tiebas, María José;
- Riveiro-Álvarez, Rosa;
- Almoguera, Berta;
- Martín-Mérida, Inmaculada;
- Del Pozo-Valero, Marta;
- Damián-Verde, Alejandra;
- Cortón, Marta;
- Ayuso, Carmen;
- Minguez, Pablo
Publication type:
Article
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12713, doi. 10.3390/ijms222312713
By:
- Damián, Alejandra;
- Ionescu, Raluca Oancea;
- Rodríguez de Alba, Marta;
- Tamayo, Alejandra;
- Trujillo-Tiebas, María José;
- Cotarelo-Pérez, María Carmen;
- Pérez Rodríguez, Olga;
- Villaverde, Cristina;
- de la Fuente, Lorena;
- Romero, Raquel;
- Núñez-Moreno, Gonzalo;
- Mínguez, Pablo;
- Ayuso, Carmen;
- Cortón, Marta
Publication type:
Article
Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2092, doi. 10.3390/ijms22042092
By:
- Artero-Castro, Ana;
- Long, Kathleen;
- Bassett, Andrew;
- Ávila-Fernandez, Almudena;
- Cortón, Marta;
- Vidal-Puig, Antonio;
- Jendelova, Pavla;
- Rodriguez-Jimenez, Francisco Javier;
- Clemente, Eleonora;
- Ayuso, Carmen;
- Slaven, Erceg;
- Wijnholds, Jan
Publication type:
Article
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Published in:
2023
By:
- Núñez-Moreno, Gonzalo;
- Tamayo, Alejandra;
- Ruiz-Sánchez, Carolina;
- Cortón, Marta;
- Mínguez, Pablo
Publication type:
Correction Notice
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Published in:
Human Genetics, 2023, v. 142, n. 4, p. 495, doi. 10.1007/s00439-023-02539-z
By:
- Núñez-Moreno, Gonzalo;
- Tamayo, Alejandra;
- Ruiz-Sánchez, Carolina;
- Cortón, Marta;
- Mínguez, Pablo
Publication type:
Article
Differential Gene Expression Profile in Omental Adipose Tissue in Women with Polycystic Ovary Syndrome.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 1, p. 328, doi. 10.1210/jc.2006-1665
By:
- Cortón, Marta;
- Botella-Carretero, José I.;
- Benguría, Alberto;
- Villuendas, Gemma;
- Zaballos, Angel;
- San Millán, José L. ,;
- Escobar-Morreale, Héctor F.;
- Peral, Belén
Publication type:
Article
Association of the Polycystic Ovary Syndrome with Genomic Variants Related to Insulin Resistance, Type 2 Diabetes Mellitus, and Obesity.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 6, p. 2640, doi. 10.1210/jc.2003-031252
By:
- SAN MILLÁN, JOSÉ L.;
- CORTÓN, MARTA;
- VILLUENDAS, GEMMA;
- SANCHO, JOSÉ;
- PERAL, BELÉN;
- ESCOBAR-MORREALE, HÉCTOR F.
Publication type:
Article
Improved resolution of the human adipose tissue proteome at alkaline and wide range pH by the addition of hydroxyethyl disulfide.
Published in:
Proteomics, 2004, v. 4, n. 2, p. 438, doi. 10.1002/pmic.200300644
By:
- Marta Cortón;
- Gemma Villuendas;
- José I. Botella;
- José L. San Millán;
- Héctor F. Escobar-Morreale;
- Belén Peral
Publication type:
Article
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00278-6
By:
- Romero, Raquel;
- de la Fuente, Lorena;
- Del Pozo-Valero, Marta;
- Riveiro-Álvarez, Rosa;
- Trujillo-Tiebas, María José;
- Martín-Mérida, Inmaculada;
- Ávila-Fernández, Almudena;
- Iancu, Ionut-Florin;
- Perea-Romero, Irene;
- Núñez-Moreno, Gonzalo;
- Damián, Alejandra;
- Rodilla, Cristina;
- Almoguera, Berta;
- Cortón, Marta;
- Ayuso, Carmen;
- Mínguez, Pablo
Publication type:
Article
Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study.
Published in:
Andrology, 2023, v. 11, n. 1, p. 24, doi. 10.1111/andr.13339
By:
- López‐Rodríguez, Rosario;
- Ruiz‐Hornillos, Javier;
- Cortón, Marta;
- Almoguera, Berta;
- Minguez, Pablo;
- Pérez‐Tomás, María Elena;
- Barreda‐Sánchez, María;
- Mancebo, Esther;
- Ondo, Lorena;
- Martínez‐Ramas, Andrea;
- Fernández‐Caballero, Lidia;
- Taracido‐Fernández, Juan Carlos;
- Herrero‐González, Antonio;
- Mahillo, Ignacio;
- Paz‐Artal, Estela;
- Guillén‐Navarro, Encarna;
- Ayuso, Carmen
Publication type:
Article
SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations.
Published in:
Pathogens, 2022, v. 11, n. 6, p. 662, doi. 10.3390/pathogens11060662
By:
- Martínez-González, Brenda;
- Soria, María Eugenia;
- Vázquez-Sirvent, Lucía;
- Ferrer-Orta, Cristina;
- Lobo-Vega, Rebeca;
- Mínguez, Pablo;
- de la Fuente, Lorena;
- Llorens, Carlos;
- Soriano, Beatriz;
- Ramos-Ruíz, Ricardo;
- Cortón, Marta;
- López-Rodríguez, Rosario;
- García-Crespo, Carlos;
- Somovilla, Pilar;
- Durán-Pastor, Antoni;
- Gallego, Isabel;
- de Ávila, Ana Isabel;
- Delgado, Soledad;
- Morán, Federico;
- López-Galíndez, Cecilio
Publication type:
Article
Proteomic analysis of human omental adipose tissue in the polycystic ovary syndrome using two-dimensional difference gel electrophoresis and mass spectrometry.
Published in:
Human Reproduction, 2008, v. 23, n. 3, p. 651, doi. 10.1093/humrep/dem380
By:
- Marta Cortón;
- José I. Botella-Carretero;
- Juan A. López;
- Emilio Camafeita;
- José L. San Millán;
- Héctor F. Escobar-Morreale;
- Belén Peral
Publication type:
Article
Genetic association study of age-related macular degeneration in the Spanish population.
Published in:
Acta Ophthalmologica (1755375X), 2011, v. 89, n. 1, p. e12, doi. 10.1111/j.1755-3768.2010.02040.x
By:
- Brión, María;
- Sanchez-Salorio, Manuel;
- Cortón, Marta;
- de la Fuente, Maria;
- Pazos, Belen;
- Othman, Mohammad;
- Swaroop, Anand;
- Abecasis, Goncalo;
- Sobrino, Beatriz;
- Carracedo, Angel
Publication type:
Article
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.
Published in:
Scientific Reports, 2015, p. 12910, doi. 10.1038/srep12910
By:
- Lukovic, Dunja;
- Artero Castro, Ana;
- Delgado, Ana Belen Garcia;
- Bernal, María de los Angeles Martín;
- Luna Pelaez, Noelia;
- Díez Lloret, Andrea;
- Perez Espejo, Rocío;
- Kamenarova, Kunka;
- Fernández Sánchez, Laura;
- Cuenca, Nicolás;
- Cortón, Marta;
- Avila Fernandez, Almudena;
- Sorkio, Anni;
- Skottman, Heli;
- Ayuso, Carmen;
- Erceg, Slaven;
- Bhattacharya, Shomi S.
Publication type:
Article
Proteomics and genomics: A hypothesis-free approach to the study of the role of visceral adiposity in the pathogenesis of the polycystic ovary syndrome.
Published in:
Proteomics - Clinical Applications, 2008, v. 2, n. 3, p. 444, doi. 10.1002/prca.200780031
By:
- Escobar-Morreale, Héctor F.;
- Insenser, María;
- Cortón, Marta;
- Millán, José L. San;
- Peral, Belén
Publication type:
Article

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