UAB Digital Repository of Documents 6 records found  Search took 0.01 seconds. 
1.
795.1 KB Genetic and phenotypic spectrum associated with IFIH1 gain-of-function / Rice, Gillian I. (University of Manchester) ; Park, Sehoon (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Gavazzi, Francesco (Children's Hospital of Philadelphia (Pennsilvània)) ; Adang, Laura A. (Children's Hospital of Philadelphia (Pennsilvània)) ; Ayuk, Loveline A. (Dumfries and Galloway Royal Infirmary) ; Eyck, Lien Van (Institut Imagine (Paris, França)) ; Seabra, Luis (Institut Imagine (Paris, França)) ; Barrea, Christophe (Université de Liège) ; Battini, Roberta (IRCCS Fondazione Stella Maris) ; Belot, Alexandre (Université de Lyon) ; Berg, Stefan (The Queen Silvia Children's Hospital) ; de Villemeur, Thierry Billette (Sorbonne Université) ; Bley, Annette E. (University Children's Hospital) ; Blumkin, Lubov (Tel-Aviv University) ; Boespflug-Tanguy, Odile (Centre de Référence Maladies Rares "Leucodystrophies") ; Briggs, Tracy A. (St Mary's Hospital) ; Brimble, Elise (Stanford University School of Medicine) ; Dale, Russell C. (University of Sydney) ; Darin, Niklas (The Queen Silvia Children's Hospital) ; Debray, François-Guillaume (Université de Liège) ; De Giorgis, Valentina (IRCCS Mondino Foundation) ; Denecke, Jonas (University Medical Center Hamburg Eppendorf) ; Doummar, Diane (Hôpital Armand Trousseau (París, França)) ; Hagelsrum, Gunilla Drake af (PeThe Queen Silvia Children's Hospital) ; Eleftheriou, Despina (University College London (UCL)) ; Estienne, Margherita (Istituto Neurologico Carlo Besta) ; Fazzi, Elisa (University of Brescia. Department of Experimental and Clinical Sciences) ; Feillet, François (Centre de Référence des maladies métaboliques de Nancy (França)) ; Galli, Jessica (University of Brescia. Department of Experimental and Clinical Sciences) ; Hartog, Nicholas (Michigan State University College of Human Medicine) ; Harvengt, Julie (University of Liège. Department of Medical Genetics) ; Heron, Bénédicte (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ; Heron, Delphine (Groupe Hospitalier Pitié-Salpêtrière (París, França). UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles) ; Kelly, Diedre A. (Birmingham Women's and Children's Hospital (Regne Unit)) ; Lev, Dorit (The Rina Mor Institute of Medical Genetics (Holon, Israel)) ; Levrat, Virginie (Centre Hospitalier Annecy Genevois (Pringy, França)) ; Livingston, John H. (Leeds General Infirmary (Leeds, Regne Unit)) ; Marti, Itxaso (Hospital Universitario de Donostia.(Sant Sebastià, País Basc)) ; Mignot, Cyril (GH Pitié-Sapêtrière (París, França). Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare) ; Mochel, Fanny (Sorbonne Universités. Institut du Cerveau et de la Moelle épinière) ; Nougues, Marie-Christine (Hôpital Armand Trousseau (París, França)) ; Oppermann, Ilena (University Medical Center Hamburg Eppendorf) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Popp, Bernt (Friedrich-Alexander-Universität Erlangen-Nürnberg. Institute of Human Genetics) ; Rodero, Mathieu P. (Institut Imagine (París, França). Laboratory of Neurogenetics and Neuroinflammation) ; Rodriguez, Diana (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ; Saletti, Veronica (Fondazione IRCCS Istituto Neurologico Carlo Besta (Milà, Itàlia)) ; Sharpe, Cia (Starship Children's Hospital (Auckland, Nova Zelanda)) ; Tonduti, Davide (V. Buzzi Children's Hospital (Milà, Itàlia)) ; Vadlamani, Gayatri (Leeds General Infirmary (Leeds, Regne Unit)) ; Haren, Keith Van (Stanford University School of Medicine. Department of Neurology) ; Vila, Miguel Tomas (Hospital Universitari i Politècnic La Fe de València) ; Vogt, Julie (West Midlands Regional Clinical Genetics Service (Regne Unit)) ; Wassmer, Evangeline (Birmingham Women's and Children's Hospital (Regne Unit)) ; Wiedemann, Arnaud (Centre de Référence des maladies métaboliques de Nancy (França)) ; Wilson, Callum J. (Starship Children's Hospital (Auckland, Nova Zelanda)) ; Zerem, Ayelet (Tel-Aviv Universitym. Sackler Faculty of Medicine) ; Zweier, Christiane (Friedrich-Alexander-Universität Erlangen-Nürnberg) ; Zuberi, Sameer M. (University of Glasgow. School of Medicine) ; Orcesi, Simona (University of Pavia. Department of Brain and Behavioural Sciences) ; Vanderver, Adeline L. (Children's Hospital of Philadelphia (Pennsilvània)) ; Hur, Sun (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Crow, Yanick J. (University of Edinburgh. Institute of Genetics and Molecular Medicine) ; Universitat Autònoma de Barcelona
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. [...]
2020 - 10.1002/humu.23975
Human mutation, Vol. 41 (january 2020) , p. 837-849  
2.
14 p, 2.3 MB eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics / Bosio, Mattia (Barcelona Supercomputing Center) ; Drechsel, Oliver (Robert Koch Institute) ; Rahman, Rubayte (NKI Netherlands Cancer Institute) ; Muyas, Francesc (Universitat Pompeu Fabra) ; Rabionet, Raquel (Institut de Recerca Sant Joan de Déu) ; Bezdan, Daniela (Universitat Pompeu Fabra) ; Domenech Salgado, Laura (Universitat Pompeu Fabra) ; Hor, Hyun (University Hospital Zurich (Suïssa)) ; Schott, Jean-Jacques (Service de Cardiologie. L'institut du thorax. CHU Nantes) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Estivill, Xavier (Women's Health Dexeus) ; Ossowski, Stephan (Institute of Medical Genetics and Applied Genomics. University of Tübingen) ; Universitat Autònoma de Barcelona
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in families, allowing for directly pinpointing rare causal mutations in genic regions without the need for linkage analysis. [...]
2019 - 10.1002/humu.23772
Human mutation, Vol. 40 Núm. 7 (july 2019) , p. 865-878  
3.
13 p, 955.5 KB TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis / van der Zee, Julie (University of Antwerp) ; Gijselinck, Ilse (University of Antwerp) ; Van Mossevelde, Sara (University Hospital Antwerp (Bèlgica)) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; De Bleecker, Jan (Universitair Ziekenhuis Gent) ; Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas-Garcia, Ricard (Universitat Autònoma de Barcelona) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Perneczky, Robert (West London Mental Health Trust) ; Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ; Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ; Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Jordanova, Albena (Medical University-Sofia) ; Sarafov, Stayko (Medical University-Sofia) ; Tournev, Ivailo (New Bulgarian University) ; de Mendonça, Alexandre (University of Lisbon) ; Miltenberger-Miltényi, Gabriel (University of Lisbon) ; Simões do Couto, Frederico (University of Lisbon) ; Ramirez, Alfredo (University of Cologne) ; Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ; Heneka, Michael T. (University of Bonn) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ; De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (University Hospital Antwerp (Bèlgica)) ; Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ; Smets, Katrien (University Hospital Antwerp (Bèlgica)) ; Robberecht, Wim (University Hospitals Gasthuisberg (Leuven, Bélgica)) ; Damme, Philip Van (University Hospitals Gasthuisberg (Leuven, Bélgica)) ; Bleecker, Jan De (Universitair Ziekenhuis Gent) ; Santens, Patrick (Universitair Ziekenhuis Gent) ; Dermaut, Bart (Universitair Ziekenhuis Gent) ; Versijpt, Jan (University Hospital Brussels) ; Michotte, Alex (University Hospital Brussels) ; Ivanoiu, Adrian (Saint-Luc University Hospital) ; Deryck, Olivier (General Hospital Sint-Jan Brugge) ; Bergmans, Bruno (General Hospital Sint-Jan Brugge) ; Delbeck, Jean (General Hospital Sint-Maria) ; Bruyland, Marc (General Hospital Glorieux Ronse) ; Willems, Christiana (Jessa Hospital) ; Salmon, Eric (University of Liège and Memory Clinic) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ortega-Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ; Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Hernández, Isabel (Institut Català de Neurociènces Aplicades) ; Boada, Mercè (Institut Català de Neurociènces Aplicades) ; Ruiz Laza, Agustín (Institut Català de Neurociènces Aplicades) ; Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ; Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Santana, Isabel (University of Coimbra) ; Rosário Almeida, Maria (University of Coimbra) ; Frisoni, Giovanni B (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ; Maetzler, Walter (Hertie Institute for Clinical Brain Research) ; Matej, Radoslav (Thomayer Hospital, Prague and Charles University) ; Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ; Kovacs, Gabor G. (Medical University of Vienna) ; Fabrizi, Gian Maria (University of Verona) ; Testi, Silvia (University of Verona) ; Universitat Autònoma de Barcelona
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. [...]
2017 - 10.1002/humu.23161
Human mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309  
4.
9 p, 1.2 MB From Wet-Lab to Variations : Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing / Laurie, Steve (Centre de Regulació Genòmica) ; Fernández , Marcos (Centre de Regulació Genòmica) ; Marco-Sola, Santiago (Universitat Pompeu Fabra) ; Trotta, Jean-Remi (Universitat Pompeu Fabra) ; Camps, Jordi (Centre de Regulació Genòmica) ; Chacón, Alejandro (Universitat Autònoma de Barcelona) ; Espinosa, Antonio (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ; Gut, Marta (Centre de Regulació Genòmica) ; Gut, Ivo (Universitat Pompeu Fabra) ; Heath, Simon (Universitat Pompeu Fabra) ; Beltran i Agulló, Sergi (Centre de Regulació Genòmica)
As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next-generation sequencing as standard practice in research and diagnostics. However, computing cost-performance ratio is not advancing at an equivalent rate. [...]
2016 - 10.1002/humu.23114
Human mutation, Vol. 37, Issue 12 (December 2016) , p. 1263-1271  
5.
10 p, 498.4 KB Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort / Cacace, Rita (University of Antwerp) ; Van den Bossche, Tobi (University Hospital Antwerp (Bèlgica)) ; Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; Geerts, Nathalie (University of Antwerp) ; Laureys, Annelies (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Pastor, Pau (Instituto de Salud Carlos III) ; Ortega-Cubero, Sara (Instituto de Salud Carlos III) ; Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Sanchez-Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Almeida, Maria Rosário (University of Coimbra) ; Santana, Isabel (University of Coimbra) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Clarimón, Jordi (Universitat Autònoma de Barcelona) ; Lleó Bisa, Alberto (Universitat Autònoma de Barcelona) ; Fortea, Juan (Universitat Autònoma de Barcelona) ; de Mendonça, Alexandre (University of Lisbon) ; Martins, Madalena (University of Lisbon) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Matej, Radoslav (Thomayer Hospital) ; Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ; Vandenbulcke, Mathieu (University of Leuven) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; De Deyn, Peter P. (University Hospital Antwerp (Bèlgica)) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; van der Zee, Julie (University of Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human mutation, Vol. 36 (october 2015) , p. 1226-1235  
6.
13 p, 1.5 MB Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles / Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Fernández, Victoria (Centro Nacional de Investigaciones Oncológicas) ; Barroso, Alicia (Centro Nacional de Investigaciones Oncológicas) ; De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caldés, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Santamariña, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vega, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Quiles, Francisco (Institut Català d'Oncologia) ; Lázaro, Conxi (Institut Català d'Oncologia) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Fernández García, Daniel (Instituto de Biología Molecular y Celular del Cancer) ; González-Sarmiento, Rogelio (Instituto de Biología Molecular y Celular del Cancer) ; Durán, Mercedes (Universidad de Valladolid. Instituto de Biología y Genética Molecular) ; Fernández Piqueras, José (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Marín, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Benítez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Recently, it has been reported that biallelic mutations in the ERCC4 (FANCQ) gene cause Fanconi anemia (FA) subtype FA-Q. To investigate the possible role of ERCC4 in breast and ovarian cancer susceptibility, as occurs with other FA genes, we screened the 11 coding exons and exon-intron boundaries of ERCC4 in 1573 index cases from high-risk Spanish familial breast and ovarian cancer pedigrees that had been tested negative for BRCA1 and BRCA2 mutations and 854 controls. [...]
2013 - 10.1002/humu.22438
Human mutation, Vol. 34, issue 12 (Dec. 2013) , p.1615-8  

Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.