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11 p, 1014.2 KB |
The broad phenotypic spectrum of PPP2R1A -related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
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Lenaerts, Lisa (University of Leuven) ;
Reynhout, Sara (KU Leuven Brain Institute (LBI)) ;
Verbinnen, Iris (University of Leuven) ;
Laumonnier, Frédéric (Centre Hospitalier Régional Universitaire (Tours, França)) ;
Toutain, Annick (Centre Hospitalier Régional Universitaire (Tours, França)) ;
Bonnet-Brilhault, Frédérique (Centre Hospitalier Régional Universitaire) ;
Hoorne, Yana (University of Leuven) ;
Joss, Shelagh (Queen Elizabeth University Hospital) ;
Chassevent, Anna K. (Kennedy Krieger Institute) ;
Smith-Hicks, Constance (Kennedy Krieger Institute) ;
Loeys, Bart (University of Antwerp) ;
Joset, Pascal (University of Zurich) ;
Steindl, Katharina (University of Zurich) ;
Rauch, Anita (University of Zurich) ;
Mehta, Sarju G. (Addenbrookes Hospital (Cambridge, Regne Unit)) ;
Chung, Wendy K. (Columbia University Medical Center) ;
Devriendt, Koenraad (University of Leuven) ;
Holder, Susan E. (North West Thames Regional Genetics Service) ;
Jewett, Tamison (Wake Forest University) ;
Baldwin, Lauren M. (Wake Forest University) ;
Wilson, William G. (University of Virginia) ;
Towner, Shelley (University of Virginia) ;
Srivastava, Siddharth (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Johnson, Hannah F. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Daumer-Haas, Cornelia (Prenatal Medicine Munich) ;
Baethmann, Martina (Klinikum Dritter Orden München) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Jain, Vani (University Hospital of Wales) ;
Varghese, Vinod (University Hospital of Wales) ;
Al-Beshri, Ali (University of Alabama at Birmingham) ;
Fulton, Stephen (Le Bonheur Children's Hospital) ;
Wechsberg, Oded (Maccabi Healthcare Services) ;
Orenstein, Naama (Tel Aviv University) ;
Prescott, Katrina (Leeds Teaching Hospitals NHS Trust) ;
Childs, Anne-Marie (Leeds Teaching Hospitals NHS Trust) ;
Faivre, Laurence (Université de Bourgogne) ;
Moutton, Sébastien (Maison de Santé Bordeaux Bagatelle (Talence, França)) ;
Sullivan, Jennifer A. (Duke University Medical Center) ;
Shashi, Vandana (Duke University Medical Center) ;
Koudijs, Suzanne M. (Maastricht UMC+) ;
Heijligers, Malou (Maastricht UMC+) ;
Kivuva, Emma (Royal Devon & Exeter NHS Foundation Trust) ;
McTague, Amy (Great Ormond Street Hospital for Children (Londres)) ;
Male, Alison M. (Great Ormond Street Hospital for Children (Londres)) ;
van Ierland, Yvette (Erasmus MC) ;
Plecko, Barbara (Medical University of Graz) ;
Maystadt, Isabelle (Institut de Pathologie et de Génétique) ;
Hamid, Rizwan (Vanderbilt University Medical Center) ;
Hannig, Vickie L. (Vanderbilt University Medical Center) ;
Houge, Gunnar (Haukeland University Hospital (Bergen, Noruega)) ;
Janssens, Veerle (KU Leuven Brain Institute (LBI)) ;
Universitat Autònoma de Barcelona
Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit. [...]
2020 -  10.1038/s41436-020-00981-2
Genetics in medicine, Vol. 23 Num. 2 (feb. 2021) , p. 352-362
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36 p, 3.1 MB |
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
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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, 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 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
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10 p, 749.0 KB |
Characterization of individuals at high risk of developing melanoma in Latin America : bases for genetic counseling in melanoma
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Puig, Susana (Universitat de Barcelona. Departament de Medicina) ;
Potrony, Miriam (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Cuellar, Francisco (Consejo Nacional de Ciencia y Tecnología (CONACYT)) ;
Puig-Butille, Joan Anton (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Carrera, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Aguilera, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Nagore, Eduardo (Universidad Católica de Valencia) ;
Garcia-Casado, Zaida (Instituto Valenciano Oncologia) ;
Requena, Celia (Fundació Institut Valencià d'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 (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Ashton-Prolla, Patricia (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Giugliani, Roberto (Hospital de Clínicas de Porto Alegre (Brasil)) ;
Larre Borges, Alejandra (Universidad de la República (Montevideo, Uruguai)) ;
Barquet, Virginia (Universidad de la República (Montevideo, Uruguai)) ;
Pérez, Javiera (Universidad de la República (Montevideo, Uruguai)) ;
Martínez, Miguel (Universidad de la República (Montevideo, Uruguai)) ;
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 (Hospital Universitario. Dr. José Eleuterio González (Monterrey, Mèxic)) ;
Olazaran, Zulema (Hospital Universitario. Dr. José Eleuterio González (Monterrey, Mèxic)) ;
Malvehy, Josep (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Badenas, Celia (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
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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
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Catucci, Irene (Fondazione Italiana per la Ricerca sul Cancro) ;
Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ;
Arver, Brita (Karolinska Institutet (Estocolm, Suècia)) ;
Neidhardt, Guido (Centrum für Integrierte Onkologie) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de 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 (Estocolm, Suècia)) ;
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 Autònoma 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) ;
Benitez, 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
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