UAB Digital Repository of Documents 4 records found  Search took 0.01 seconds. 
1.
36 p, 3.1 MB 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 Guillermo, 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) ; Universitat Autònoma de Barcelona
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.
10 p, 749.0 KB Characterization of individuals at high risk of developing melanoma in Latin America : bases for genetic counseling in melanoma / Puig, Susana (Universitat de Barcelona. Departament de Medicina) ; Potrony, Miriam (Melanoma Unit, Dermatology Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer)) ; Cuellar, Francisco (Consejo Nacional de Ciencia y Tecnología (CONACYT)) ; Puig-Butille, Joan Anton (Melanoma Unit, Biochemistry and Molecular Genetics Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer)) ; Carrera, Cristina (Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII)) ; Aguilera, Paula (Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII)) ; Nagore, Eduardo (Universidad Católica de Valencia) ; Garcia-Casado, Zaida (Molecular Biology Unit, Instituto Valenciano de Oncologia) ; Requena, Celia (Department of Dermatology, Instituto Valenciano de Oncologia) ; Kumar, Rajiv (Division of Molecular Genetic Epidemiology, German Cancer Research Center) ; Landman, Gilles (International Research Center, AC Camargo Cancer Center) ; Costa Soares de Sá, Bianca (International Research Center, AC Camargo Cancer Center) ; Gargantini Rezze, Gisele (International Research Center, AC Camargo Cancer Center) ; Facure, Luciana (International Research Center, AC Camargo Cancer Center) ; de Avila, Alexandre Leon Ribeiro (International Research Center, AC Camargo Cancer Center) ; Achatz, Maria Isabel (International Research Center, AC Camargo Cancer Center) ; Carraro, Dirce Maria (International Research Center, AC Camargo Cancer Center) ; Duprat Neto, João Pedreira (International Research Center, AC Camargo Cancer Center) ; Grazziotin, Thais C. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ; Bonamigo, Renan R. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ; Rey, Maria Carolina W. (Dermatology Department and Post-Graduation Program of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)) ; Balestrini, Claudia (Servicio de Dermatología, Hospital Dr. Sótero del Río) ; Morales, Enrique (Servicio de Dermatología, Hospital San Juan de Dios) ; Molgo, Montserrat (Pontificia Universidad Católica de Chile) ; Bakos, Renato Marchiori (Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul) ; Ashton-Prolla, Patricia (Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul) ; Giugliani, Roberto (Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul) ; Larre Borges, Alejandra (Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República) ; Barquet, Virginia (Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República) ; Pérez, Javiera (Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República) ; Martínez, Miguel (Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República) ; Cabo, Horacio (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ; Cohen Sabban, Emilia (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ; Latorre, Clara (Consultorio Dermatológico Drs. Cohen Sabban y Cabo) ; Carlos-Ortega, Blanca (Hospital Especialidades Centro Medico Nacional La Raza) ; Salas-Alanis, Julio C (Departamento de Ciencias Básicas, Escuela de Medicina Universidad de Monterrey) ; Gonzalez, Roger (Servicio de Dermatología, Hospital Universitario "Dr. José Eleuterio González,") ; Olazaran, Zulema (Servicio de Dermatología, Hospital Universitario "Dr. José Eleuterio González,") ; Malvehy, Josep (Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII)) ; Badenas, Celia (Melanoma Unit, Biochemistry and Molecular Genetics Department, Hospital Clínic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer))
CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. [...]
2015 - 10.1038/gim.2015.160
Genetics in medicine, Vol. 18 (december 2015) , p. 727-736  
3.
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  
4.
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  

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