Browsing by Author "Montfort, Magda"

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  • A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes
    Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Publishing Group, 2017)
    Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different ...
  • Citizen science charts two major "stomatotypes" in the oral microbiome of adolescents and reveals links with habits and drinking water composition
    Willis, Jesse R.; González-Torres, Pedro; Pittis, Alexandros, 1982-; Bejarano, Luis A.; Cozzuto, Luca; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Valentín, Antònia; Ksiezopolska, Ewa; Company, Carlos; Onywera, Harris; Montfort, Magda; Hermoso Pulido, Antonio; Iraola Guzman, Susana; Saus Martínez, Ester; Labeeuw, Annick; Carolis, Carlo; Hecht, Jochen; Ponomarenko, Julia; Gabaldón Estevan, Juan Antonio, 1973- (BioMed Central, 2018)
    Background: The oral cavity comprises a rich and diverse microbiome, which plays important roles in health and disease. Previous studies have mostly focused on adult populations or in very young children, whereas the ...
  • Design and evaluation of a panel os single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease
    Muiños Gimeno, Margarita; Montfort, Magda; Bayés, Mònica; Estivill, Xavier, 1955-; Espinosa Parrilla, Yolanda, 1971- (Nature Publishing Group, 2010)
    MicroRNAs (miRNA) are recognized posttranscriptional gene repressors involved in the control of almost every biological process. Allelic variants in these regions may be an important source of phenotypic diversity and ...
  • Exploiting single-molecule transcript sequencing for eukaryotic gene prediction
    Minoche, André E.; Dohm, Juliane C.; Schneider, Jessica; Holtgräwe, Daniela; Viehöver, Prisca; Montfort, Magda; Sörensen, Thomas Rosleff; Weisshaar, Bernd; Himmelbauer, Heinz (BioMed Central, 2015)
    We develop a method to predict and validate gene models using PacBio single-molecule, real-time (SMRT) cDNA reads. Ninety-eight percent of full-insert SMRT reads span complete open reading frames. Gene model validation ...
  • Genomic analysis of the blood attributed to Louis XVI (1754–1793), king of France
    Olalde Marquínez, Íñigo, 1987-; Sánchez Quinto, Federico A, 1985-; Datta, Debayan; Marigorta, Urko M.; Chiang, Charleston W.K.; Rodríguez, Juan Antonio; Fernández Callejo, Marcos; González Navarrete, Irene, 1983-; Montfort, Magda; Matas Lalueza, Laura; Civit, Sergi; Luiselli, Donata; Charlier, Philippe; Pettener, Davide; Ramírez, Oscar; Navarro i Cuartiellas, Arcadi, 1969-; Himmelbauer, Heinz; Marquès i Bonet, Tomàs, 1975-; Lalueza Fox, Carles, 1965- (Nature Publishing Group, 2014)
    A pyrographically decorated gourd, dated to the French Revolution period, has been alleged to contain a handkerchief dipped into the blood of the French king Louis XVI (1754–1793) after his beheading but recent analyses ...