Resultats globals: 7 registres trobats en 0.01 segons.
Articles, 7 registres trobats
Articles 7 registres trobats  
1.
14 p, 1.7 MB Generating new fanca-deficient hnscc cell lines by genomic editing recapitulates the cellular phenotypes of fanconi anemia / Errazquin, Ricardo (Molecular Oncology Unit. CIEMAT) ; Sieiro, Esther (Molecular Oncology Unit. CIEMAT) ; Moreno Sánchez, Pilar (Molecular Oncology Unit. CIEMAT) ; Ramírez de Haro, Ma. José (Institut d'Investigació Biomèdica Sant Pau) ; Lorz, Corina (Centro de Investigación Biomédica en Red de Cáncer) ; Peral, Jorge (Molecular Oncology Unit. CIEMAT) ; Ortiz, Jessica (Molecular Oncology Unit. CIEMAT) ; Casado, José A. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Roman-Rodriguez, Francisco J. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Hanenberg, Helmut (Heinrich Heine University) ; Río, Paula (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Segrelles, Carmen (Centro de Investigación Biomédica en Red de Cáncer) ; Garcia-Escudero, Ramon (Centro de Investigación Biomédica en Red de Cáncer) ; Universitat Autònoma de Barcelona
Fanconi anemia (FA) patients have an exacerbated risk of head and neck squamous cell carcinoma (HNSCC). Treatment is challenging as FA patients display enhanced toxicity to standard treatments, including radio/chemotherapy. [...]
2021 - 10.3390/genes12040548
Genes, Vol. 12 Núm. 4 (april 2021) , p. 548  
2.
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 (País Basc)) ; Catalá, 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  
3.
11 p, 1.6 MB Week 96 efficacy and safety results of the phase 3, randomized EMERALD trial to evaluate switching from boosted-protease inhibitors plus emtricitabine/tenofovir disoproxil fumarate regimens to the once daily, single-tablet regimen of darunavir/cobicistat/emtricitabine/tenofovir alafenamide (D/C/F/TAF) in treatment-experienced, virologically-suppressed adults living with HIV-1 / Eron, J. J. (University of North Carolina School of Medicine) ; Orkin, C. (Department of HIV Medicine. Royal Free London NHS Foundation Trust) ; Cunningham, D. (Pueblo Family Physicians) ; Pulido, F. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Post, F. (King's College Hospital NHS Foundation Trust) ; De Wit, Stéphane (Université Libre de Bruxelles) ; Lathouwers, E. (Janssen Pharmaceutica NV) ; Hufkens, V. (Janssen Pharmaceutica NV) ; Jezorwski, J. (Janssen Research & Development) ; Petrovic, R. (Janssen Pharmaceutica NV) ; Brown, K. (Janssen Pharmaceutica NV) ; Van Landuyt, E. (Janssen Pharmaceutica NV) ; Opsomer, M. (Janssen Pharmaceutica NV) ; De Wit, Stéphane (Université Libre de Bruxelles) ; Florence, E. (Institute of Tropical Medicine) ; Moutschen, M. (Liège University Hospital (Bèlgica)) ; Van Wijngaerden, E. (University Hospitals Leuven (Bèlgica)) ; Vandekerckhove, L. (Ghent University Hospital. (Bèlgica)) ; Vandercam, B. (AIDS Reference center. Cliniques Universitaires Saint-Luc) ; Brunetta, J. (Maple Leaf Medical Clinic) ; Conway, B. (Vancouver Infectious Diseases Center) ; Klein, M. (Division of Infectious Diseases. Faculty of Medicine. McGill University Health Centre) ; Murphy, D. (Institut national de santé publique du Québec) ; Rachlis, A. (Sunnybrook Health Sciences Centre) ; Shafran, S. (Department of Medicine. University of Alberta) ; Walmsley, S. (University Health Network) ; Ajana, F. (Infectious Diseases Department. Tourcoing Hospital) ; Cotte, L. (Hospices Civils de Lyon. Hôpital de la Croix-Rousse) ; Girardy, P. M. (University Pierre & Marie Curie) ; Katlama, C. (HIV Clinical Research Unit) ; Molina, J. M. (Department of Infectious Diseases. St-Louis Hospital APHP. University of Paris Diderot) ; Poizot-Martin, I. (Clinical Immuno-Hematology Department. Aix-Marseille University. Sainte-Marguerite University Hospital and Inserm U912) ; Raffi, F. (CHU Hôtel Dieu) ; Rey, D. (Le Trait d'Union. HIV-Infection Care Center. Hôpitaux Universitaires de Strasbourg) ; Reynes, J. (University Hospital of Montpellier (França)) ; Teicher, E. (Infectious Diseases Department. APHP. Hôpital Bicêtre) ; Yazdanpanah, Y. ; Gasiorowski, J. (Independent Laboratory for Monitoring Infections among Drug Users at the Department of Infectious Diseases. Liver Disease and Acquired Immune Deficiencies. Wroclaw Medical University) ; Halota, W. (Department of Infectious Diseases and Hepatology. Nicolaus Copernicus University) ; Horban, A. (Medical University of Warsaw. Department for Adult's Infectious Diseases) ; Piekarska, A. (Department of Infectious Diseases and Hepatology. Medical University of Lodz) ; Witor, A. (Regional Hospital. Out-Patient's Clinic for Immune Deficiency) ; Arribas, J. R. (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Perez-Valero, I. (Hospital Universitario La Paz (Madrid)) ; Berenguer, J. (Hospital General Universitario Gregorio Marañón) ; Casado, José A. (Hospital Universitario Ramón y Cajal (Madrid)) ; Gatell, J. M. (Infectious Diseases Department. HCB) ; Gutiérrez, Félix (Hospital General Universitario de Elche) ; Galindo, M. J. (Hospital Clínic Universitari (València)) ; Gutiérrez Macià, Mª Del Mar (Institut d'Investigació Biomèdica Sant Pau) ; Iribarren, J. A. (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ; Knobel, H. (Hospital del Mar (Barcelona, Catalunya)) ; Negredo Puigmal, Eugènia. (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Pineda, J. A. (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; Podzamczer, Daniel (Institut d'Investigació Biomèdica de Bellvitge) ; Sogorb, J. P. (Hospital Universitario 12 de Octubre (Madrid)) ; Pulido, F. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Ricart, C. (Department of Microbiology. School of Medicine. University of Valencia) ; Rivero, A. (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Santos Gil, I. (Hospital Universitario de la Princesa (Madrid)) ; Blaxhult, A. (Department of Infectious Diseases. Venhälsan. Södersjukhuset) ; Flamholc, L. (Skåne University Hospital (Suècia)) ; Gisslèn, M. (Department of Infectious Diseases. University of Gothenburg) ; Thalme, A. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Fehr, J. (University Hospital Zurich (Suïssa)) ; Rauch, A. (Bern University Hospital) ; Stoeckle, M. (University Hospital Basel (Basilea, Suïssa)) ; Clarke, A. (Claude Nicol Centre. Royal Sussex County Hospital. Brighton and Sussex University Hospitals NHS Trust) ; Gazzard, B. G. (St. Stephen's Centre. Department of HIV/Genito-Urinary Medicine. Chelsea and Westminster Hospital) ; Johnson, M. A. (Queen Mary University) ; Orkin, C. (Department of HIV Medicine. Royal Free London NHS Foundation Trust) ; Post, F. (King's College Hospital NHS Foundation Trust) ; Ustianowski, Andrew (Regional Infectious Diseases Unit. North Manchester General Hospital) ; Waters, L. (University College London Hospital) ; Bailey, J. (Department of Medicine. Johns Hopkins University School of Medicine) ; Benson, P. (Be Well Medical) ; Bhatti, L. (AIDS Healthcare Foundation) ; Brar, I. (Henry Ford Hospital) ; Bredeek, U. F. (Metropolis Medical PC) ; Brinson, C. (Central Texas Clinical Research) ; Crofoot, G. (The Crofoot Research Center) ; Cunningham, D. (Pueblo Family Physicians) ; DeJesus, E. (Pueblo Family Physicians) ; Dietz, C. (Orlando Immunology Center) ; Dretler, R. (HIV Medicine. Kansas City Free Health Clinic) ; Eron, J. (Infectious Disease Specialists of Atlanta) ; Felizarta, F. (Private Practice) ; Fichtenbaum, C. (University of Cincinnati College of Medicine) ; Gallant, J. (Southwest CARE Center) ; Gathe, J. (Therapeutic Concepts) ; Hagins, D. (Georgia Department of Public Health. Chatham Care Center) ; Henn, S. (Whitman-Walker Health) ; Henry, W. K. (Department of Medicine. University of Minnesota Washington University School of Medicine) ; Huhn, G. (Ruth M. Rothstein CORE Center) ; Jain, M. (Department of Internal Medicine. University of Texas Southwestern Medical Center) ; Lucasti, C. (South Jersey Infectious Disease) ; Martorell, C. (Infectious Disease and The Research Institute) ; McDonald, C. (Tarrant County Infectious Disease Associates) ; Mills, A. (Southern California Men's Medical Group) ; Morales-Ramirez, J. (Clinical Research Puerto Rico Inc.) ; Mounzer, K. (Philadelphia FIGHT) ; Nahass, R. (ID Care) ; Olivet, H. (Community Research Initiative of New England) ; Osiyemi, O. (Triple O Research Institute PA) ; Prelutsky, D. (Department of Internal Medicine. Washington University School of Medicine) ; Ramgopal, M. (Midway Immunology Center. Fort Pierce) ; Rashbaum, B. (Capital Medical Associates) ; Richmond, G. (Broward General Medical Center) ; Ruane, P. (Ruane Clinical Research Group) ; Scarsella, A. (Pacific Oaks Medical Group) ; Scribner, A. (DCOL Center for Clinical Research) ; Shalit, P. (Peter Shalit MD and Associates) ; Shamblaw, D. (La Playa Medical Group) ; Slim, J. (Department of Infectious Diseases. Seton Hall University) ; Tashima, K. (The Miriam Hospital. Warren Alpert Medical School of Brown University) ; Voskuhl, G. (AIDS Arms. Inc.) ; Ward, D. (Dupont Circle Physicians Group) ; Wilkin, A. (Wake Forest School of Medicine) ; de Vente, J. (Living Hope Foundation) ; Universitat Autònoma de Barcelona
Darunavir/cobicistat/emtricitabine/tenofovir alafenamide (D/C/F/TAF) 800/150/200/10 mg was investigated through 96 weeks in EMERALD (NCT02269917). Virologically-suppressed, HIV-1-positive treatment-experienced adults (previous non-darunavir virologic failure [VF] allowed) were randomized (2:1) to D/C/F/TAF or boosted protease inhibitor (PI) plus emtricitabine/tenofovir-disoproxil-fumarate (F/TDF) over 48 weeks. [...]
2019 - 10.1016/j.antiviral.2019.104543
Antiviral Research, Vol. 170 (october 2019) , p. 104543  
4.
13 p, 768.1 KB Bcr/Abl Interferes With The Fanconi Anemia/Brca Pathway : Implications In The Chromosomal Instability Of Chronic Myeloid Leukemia Cells / Valeri, Antonio (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Alonso-Ferrero, Maria Eugenia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casado, José A. (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Pérez, Laura (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Jacome, Ariana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Agirre, Xabier (Universidad de Navarra. Fundación para la Investigación Médica Aplicada) ; Calasanz, Maria José (Universidad de Navarra. Fundación para la Investigación Médica Aplicada) ; Hanenberg, Helmut (Children's Hospital (Duesseldorf). Department of Pediatric Oncology, Hematology and Immunology) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Prosper, Felipe (Universidad de Navarra. Fundación para la Investigación Médica Aplicada) ; Albella, Beatriz (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT))
Chronic myeloid leukemia (CML) is a malignant clonal disorder of the hematopoietic system caused by the expression of the BCR/ABL fusion oncogene. Although it is well known that CML cells are genetically unstable, the mechanisms accounting for this genomic instability are still poorly understood. [...]
2010 - 10.1371/journal.pone.0015525
PloS one, Vol. 5, Num. 12 (2010) , p. 15525  
5.
13 p, 2.1 MB Epigenetic Alterations in Fanconi Anaemia : Role in Pathophysiology and Therapeutic Potential / Belo, Hélio (Universidade Nova de Lisboa. Faculdade de Ciências Médicas) ; Silva, Gabriela (Universidade Nova de Lisboa. Faculdade de Ciências Médicas) ; Cardoso, Bruno A. (Universidade Nova de Lisboa. Faculdade de Ciências Médicas) ; Porto, Beatriz (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ; Minguillón Pedreño, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Barbot, José (Centro Hospitalar do Porto (Porto, Portugal)) ; Coutinho, Jorge (Centro Hospitalar do Porto (Porto, Portugal)) ; Casado, José A. (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Benedito, Manuela (Centro Hospitalar e Universitário de Coimbra (Coimbra, Portugal)) ; Saturnino, Hema (Centro Hospitalar e Universitário de Coimbra (Coimbra, Portugal)) ; Costa, Emília (Centro Hospitalar do Porto (Porto, Portugal)) ; Bueren, Juan (Centro Hospitalar do Porto (Porto, Portugal)) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Almeida, António (Universidade Nova de Lisboa. Faculdade de Ciências Médicas)
Fanconi anaemia (FA) is an inherited disorder characterized by chromosomal instability. The phenotype is variable, which raises the possibility that it may be affected by other factors, such as epigenetic modifications. [...]
2015 - 10.1371/journal.pone.0139740
PloS one, Vol. 10, Num. 10 (October 2015) , p. 1-13  
6.
29 p, 2.6 MB Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia / Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Schuster, Beatrice (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Stoepker, Chantal (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Derkunt, Burak (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Su, Yan (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Raams, Anja (Erasmus MC Universitair Medisch Centrum Rotterdam) ; Trujillo Quintero, Juan Pablo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Minguillón Pedreño, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (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) ; Casado, José A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Baños, Rocío (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Knies, Kerstin (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya))) ; Zúñiga, Sheila (Sistemas Genómicos. Departamento de Bioinformática) ; Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Bueren, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Jaspers, Nicolaas G. J. (Erasmus MC Universitair Medisch Centrum Rotterdam) ; Schärer, Orlando D. (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
BFanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. FA-associated gene products are involved in the repair of DNA interstrand crosslinks (ICLs). [...]
2013 - 10.1016/j.ajhg.2013.04.002
American journal of human genetics, Vol. 92 (May 2013) , p. 800-806  
7.
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 de 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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