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Articles, 2 registres trobats
Articles 2 registres trobats  
1.
10 p, 841.7 KB Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes / Sevilla, Julián (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Navarro Ordóñez, Susanna (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sánchez-Domínguez, Rebeca (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Zubicaray, Josune (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Gálvez, Eva (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Merino, Eva (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sebastián, Elena (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Azqueta, Carmen (Banc de Sang i Teixits de Catalunya) ; Casado, José A. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Segovia, José C. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Alberquilla, Omaira (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Román-Rodríguez, Francisco J. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Giménez, Yari (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Larcher, Lise (Université de Paris. Institut de Recherche Saint-Louis) ; Salgado Sánchez, Rocío Nieves (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Pujol, Roser M. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hladun, Raquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Castillo, Ana (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Soulier, Jean (Université de Paris. Institut de Recherche Saint-Louis) ; Querol, Sergi (Banc de Sang i Teixits de Catalunya) ; Fernández, Jesús (Banc de Sang i Teixits de Catalunya) ; Schwartz, Jonathan (Rocket Pharmaceuticals Inc. (New York)) ; García de Andoín, Nagore (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ; López, Ricardo (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Català, Albert (Institut de Recerca Pediàtrica Sant Joan de Déu) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bueren, Juan (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Difficulties in the collection of hematopoietic stem and progenitor cells (HSPCs) from Fanconi anemia (FA) patients have limited the gene therapy in this disease. We have investigated (, NCT02931071) the safety and efficacy of filgrastim and plerixafor for mobilization of HSPCs and collection by leukapheresis in FA patients. [...]
2021 - 10.1016/j.omtm.2021.06.001
Molecular Therapy. Methods & Clinical Development, Vol. 22 (September 2021) , p. 66-75  
2.
59 p, 1.7 MB Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations / Kalba, Reinhard (University of Wurzburg. Department of Human Genetics) ; Neveling, Kornelia (University of Wurzburg. Department of Human Genetics) ; Hoehn, Holger (University of Wurzburg. Department of Human Genetics) ; Schneider, Hildegard (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Linka, Yvonne (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Batishb, Sat Dev (The Rockefeller University. Laboratory of Human Genetics and Hematology) ; Hunt, Curtis (University of New Mexico. Division of Epidemiology) ; Berwick, Marianne (University of New Mexico. Division of Epidemiology) ; Callén Moréu, Elsa (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casado, José A. (CIEMAT. Hematopoietic Gene Therapy Program) ; Bueren, Juan (CIEMAT. Hematopoietic Gene Therapy Program) ; Dasí, Ángeles (Hospital Universitari i Politècnic La Fe (València)) ; Soulier, Jean (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ; Gluckman, Eliane (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ; Zwaan, C. Michel (Erasmus MC Sophia Children's Hospital (Rotterdam). Department of Pediatric Hematology/Oncology) ; Van Spaendonk, Rosalina (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Pals, Gerard (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Joenje, Hans (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Grompe, Markus (Oregon Health and Science University, Department of Medical and Molecular Genetics) ; Auerbach, Arleen D. (The Rockefeller University. Laboratory of Human Genetics and Hematology) ; Hanenberg, Helmut (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Schindler, Detlev (University of Wurzburg. Department of Human Genetics)
FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses. Using complementation assays and immunoblotting, a consortium of American and European groups assigned 29 FA patients from 23 families and 4 additional unrelated patients to complementation group FA-D2. [...]
2007 - 10.1086/517616
American journal of human genetics, Vol. 80, Núm. 5 (2007) , p. 895-910  

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