UAB Digital Repository of Documents 3 records found  Search took 0.01 seconds. 
1.
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia / Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Chianese, Chiara (Institut d'Investigació Biomèdica Sant Pau) ; Moreno-Mendoza, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Rajmil, Osvaldo (Institut d'Investigació Biomèdica Sant Pau) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Blanco, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodríguez, Inés (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Badell Serra, Isabel (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública) ; Ruiz-Castañé, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Purpose: in about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. [...]
2019 - 10.1038/s41436-018-0037-1
Genetics in Medicine, Vol. 21, issue 1 (Jan. 2019) , p. 189-194  
2.
21 p, 1.7 MB Individuals with FANCM biallelic mutations do no develop Fanconi anemia, but show risk for breast cancer, chemotherapy sensitivity toxicity and may display chromosome fragility / Catucci, Irene (Fondazione Italiana per la Ricerca sul Cancro) ; Osorio, Ana (Centro Nacional de Investigaciones Oncológicas Carlos III) ; Arver, Brita (Karolinska Institutet) ; Neidhardt, Guido (Centrum für Integrierte Onkologie) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i Microbiologia) ; Zanardi, Federica (Fondazione Italiana per la Ricerca sul Cancro) ; Riboni, Mirko (Fondazione Italiana per la Ricerca sul Cancro) ; Minardi, Simone (Fondazione Italiana per la Ricerca sul Cancro) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Azzollini, Jacopo (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Peissel, Bernard (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Manoukian, Siranoush (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Vecchi, De, Giovanna (Fondazione Italiana per la Ricerca sul Cancro) ; Casola, Stefano (Fondazione Italiana per la Ricerca sul Cancro) ; Hauke, Jan (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Richters, Lisa (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Rhiem, Kerstin (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Schmutzler, Rita K. (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Wallander,Karin (Karolinska Institutet) ; Törngren, Therese (University of Lund. Department of Clinical Sciences) ; Borg, Åke (University of Lund. Department of Clinical Sciences) ; Radice, Paolo (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hahnen, Eric (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Ehrencrona, Hans (University of Lund. Department of Clinical Genetics) ; Kvist, Anders (University of Lund. Department of Clinical Sciences) ; Benítez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Peterlongo, Paolo (Fondazione Italiana per la Ricerca sul Cancro)
PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). [...]
2017 - 10.1038/gim.2017.123
Genetics in Medicine, Vol. 20 (April 2018) p. 452–457  
3.
14 p, 104.2 KB Savior siblings and Fanconi anemia : analysis of success rates from the family's perspective. / Trujillo Quintero, Juan Pablo (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia)
Purpose:The current curative treatment of Fanconi anemia is hematopoietic stem cell transplantation; this treatment has a higher rate of successful outcome when donors are compatible siblings. Therefore some families opt to have a healthy and compatible baby after selecting an embryo using preimplantation genetic diagnosis with human leukocyte antigen (HLA) typing. [...]
2015 - 10.1038/gim.2014.206
Genetics in Medicine, Vol. 17, issue 11 (Nov. 2015) , p. 935-938  

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