Resultats globals: 5 registres trobats en 0.03 segons.
Articles, 5 registres trobats
Articles 5 registres trobats  
1.
11 p, 1.8 MB Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 / Hernández Viedma, Gonzalo (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) ; Minguillón, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Quiles, Paco (Catalan Institute of Oncology) ; Ruiz de Garibay G. (Institut Català d'Oncologia)ge) ; Aza-Carmona, Miriam (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (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) ; Prados-Carvajal, Rosario (Universidad de Sevilla. Departamento de Genética) ; Fernández-Rodríguez, Juana (Institut d'Investigació Biomèdica de Bellvitge) ; García, Nadis (Institut Català d'Oncologia) ; López, Adrià (Institut Català d'Oncologia) ; Gutiérrez-Enríquez, Sara (Vall d'Hebron Institut d'Oncologia) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Benítez, Javier (Centro de Investigación biomédica en red de enfermedades raras) ; Salinas, Mónica (Institut Català d'Oncologia) ; Teulé, Àlex (Institut Català d'Oncologia) ; Brunet, Joan (Institut Català d'Oncologia) ; Radice, Paolo (Istituto Nazionale dei Tumori (Milà)) ; Peterlongo, Paolo (Istituto Nazionale dei Tumori (Milà)) ; Schindler, Detlev (Universität Würzburg. Department of Human Genetics) ; Huertas, Pablo (Universidad de Sevilla. Departamento de Genética) ; Puente, Xose P. (Universidad de Oviedo. Department de Bioquímica y Biología Molecular) ; Lázaro, Coxi (Institut Català d'Oncologia) ; Pujana. Miguel Ángel (Institut Català d'Oncologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors are exquisitely sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors. [...]
2018 - 10.1038/s41467-018-03433-3
Nature Communications, Vol. 9 (2018) , art. 967  
2.
16 p, 2.6 MB Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi / Knies, Kerstin (Bayerische Julius-Maximilians-Universität Würzburg. Institut für Humangenetik) ; Inano, Shojiro (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ishiai, Masamichi (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Takata, 5Minoru (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Schindler, Detlev (Bayerische Julius-Maximilians-Universität Würzburg. Institut für Humangenetik)
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). [...]
2017 - 10.1172/JCI92069
The Journal of clinical investigation, Vol. 127, issue 8 (Auyg. 2017) , p. 3013-3027  
3.
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 Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Minguillón, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol i Calvet, M. Roser (Universitat Autonoma 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) ; Benítez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Bueren, Juan A. (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 Autonoma 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  
4.
14 p, 2.9 MB Exploring the link between MORF4L1 and risk of breast cancer / Martrat, Griselda (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Maxwell, Christopher A. (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Tominaga, Emiko (The University of Texas Health Science Center at San Antonio) ; Porta de la Riva, Montserrat (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Bonifaci, Núria (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Gomez-Baldo, Laia (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Blanco, Ignacio (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Brunet, Joan (Hospital Joan Trueta (Girona, Catalunya)) ; Aguilar, Helena (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Fernandez-Rodriguez, Juana (Hospital Joan Trueta (Girona, Catalunya)) ; Seal, Sheila (Institute of Cancer Research (Sutton, Regne Unit)) ; Renwick, Anthony (Institute of Cancer Research (Sutton, Regne Unit)) ; Rahman, Nazneen (Institute of Cancer Research (Sutton, Regne Unit)) ; Kühl, Julia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Neveling, Kornelia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Castellà, María (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Easton, Douglas F. (University of Cambridge. Department of Public Health and Primary Care) ; Peock, Susan (University of Cambridge. Department of Public Health and Primary Care) ; Cook, Margaret (University of Cambridge. Department of Public Health and Primary Care) ; Oliver, Clare T. (University of Cambridge. Department of Public Health and Primary Care) ; Frost, Debra (University of Cambridge. Department of Public Health and Primary Care) ; Platte, Radka (University of Cambridge. Department of Oncology,) ; Evans, D. Gareth (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ; Lalloo, Fiona (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ; Eeles, Rosalind (The Institute of Cancer Research (Sutton, Regne Unit)) ; Izatt, Louise (Guy's and St Thomas NHS Foundation Trust (Londres, Regne Unit)) ; Chu, Carol (Yorkshire Regional Genetics Service (Leeds, Regne Unit)) ; Davids, Rosemarie (Ferguson-Smith Centre for Clinical Genetics (Glasgow, Regne Unit)) ; Ong, Kai-Ren (Birmingham Women's Hospital Healthcare NHS Trust (Birmingham, Regne Unit)) ; Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Douglas, Fiona (Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, Regne Unit)) ; Hodgson, Shirley (University of London. St George's Hospital. Clinical Genetics Department) ; Brewer, Carole (Royal Devon & Exeter Hospital (Exeter, Regne Unit)) ; Morrison, Patrick J. (Northern Ireland Regional Genetics Centre (Belfast, Regne Unit)) ; Porteous, Mary (South East of Scotland Regional Genetics Service (Edimburg, Regne Unit)) ; Peterlongo, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ; Manoukian, Siranoush (Fondazione IRCCS INT (Milà, Itàlia)) ; Peissel, Bernard (Fondazione IRCCS INT (Milà, Itàlia)) ; Zaffaroni, Daniela (Fondazione IRCCS INT (Milà, Itàlia)) ; Roversi, Gaia (Fondazione IRCCS INT (Milà, Itàlia)) ; Barile, Monica (Istituto Europeo di Oncologia (Milà, Itàlia)) ; Viel, Alessandra (Centro di Riferimento Oncologico (Aviano, Itàlia)) ; Pasini, Barbara (University of Turin. Department of Genetics, Biology and Biochemistry (Torí, Itàlia)) ; Ottini, Laura (Sapienza University of Rome. Department of Molecular Medicine) ; Putignano, Anna Laura (University of Florence. Department of Clinical Physiopathology (Florència, Itàlia)) ; Savarese, Antonella (Regina Elena Cancer Institute (Roma, Itàlia)) ; Bernard, Loris (IEO. Department of Experimental Oncology (Milà, Itàlia)) ; Radice, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ; Healey, Sue (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Spurdle, Amanda (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Chen, Xiaoqing (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Beesley, Jonathan (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Rookus, Matti A. (The Netherlands Cancer Institute. Department of Epidemiology (Amsterdam, Països Baixos)) ; Verhoef, Senno (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ; Tilanus-Linthorst, Madeleine A. (Erasmus MC-Daniel den Hoed Cancer Center (Rotterdam, Països Baixos)) ; Vreeswijk, Maaike P. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ; Asperen, Christi J. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ; Bodmer, Danielle (Radboud University Nijmegen Medical Center. Department of Human Genetics (Nijmegen, Països Baixos)) ; Ausems, Margreet G. E. M. (University Medical Center Utrecht. Department of Medical Genetics (Utrecht, Països Baixos)) ; van Os, Theo A. (Academic Medical Center, Department of Clinical Genetics (Amsterdam, Països Baixos)) ; Blok, Marinus J. (University Hospital Maastricht. Department of Clinical Genetics (Maastricht, Països Baixos)) ; Meijers-Heijboer, Hanne E. J. (VU Medical Center. Department of Clinical Genetics (Amsterdam, Països Baixos)) ; Hogervorst, Frans B. L. (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ; Goldgar, David E. (University of Utah School of Medicine. Department of Dermatology (Salt Lake City, Estats Units d'Amèrica)) ; Buys, Saundra (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica)) ; John, Esther M. (Cancer Prevention Institute of California (Fremont, Estats Units d'Amèrica)) ; Miron, Alexander (Dana-Farber Cancer Institute. Department of Cancer Biology (Boston, Estats Units d'Amèrica)) ; Southey, Melissa (The University of Melbourne. Melbourne School of Population Health (Austràlia)) ; Daly, Mary B. (Fox Chase Cancer Center. Division of Population Science (Philadelphia, Estats Units d'Amèrica)) ; Harbst, Katja (Lund University. Department of Oncology (Lund, Suècia)) ; Borg, Åke (Lund University. Department of Oncology (Lund, Suècia)) ; Rantala, Johanna (Karolinska University Hospital. Department of Clinical Genetics (Estocolm, Suècia)) ; Barbany-Bustinza, Gisela (Karolinska University Hospital. Department of Clinical Genetics (Estocolm, Suècia)) ; Ehrencrona, Hans (Uppsala University. Departament of Genetics and Pathology (Uppsala, Suècia)) ; Stenmark-Askmalm, Marie (Hälsouniversitetet Universitetssjukhuset. Department of Oncology (Linköping, Suècia)) ; Kaufman, Bella (Chaim Sheba Medical Center. The Institute of Oncology (Ramat Gan, Israel)) ; Laitman, Yael (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel)) ; Milgrom, Roni (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel)) ; Friedman, Eitan (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel)) ; Domchek, Susan M. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Nathanson, Katherine L. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Rebbeck, Timothy R. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Johannsson, Oskar Thor (20A Landspitali-LSH v/Hringbraut. Department of Oncology (Reykjavik, Islàndia)) ; Couch, Fergus J. (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ; Wang, Xianshu (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ; Fredericksen, Zachary (Mayo Clinic. Department of Health Sciences Research (Rochester, Estats Units d'Amèrica)) ; Cuadras, Daniel (Institut d'Investigació Biomèdica de Bellvitge. Statistical Assessment Service (L'Hospitalet del Llobregat, Catalunya)) ; Moreno, Víctor (South East of Scotland Regional Genetics Service, Western General Hospital (Edimburg, Regne Unit)) ; Pientka, Friederike K. (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ; Depping, Reinhard (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ; Caldés, Trinidad (Hospital Clínico San Carlos. Medical Oncology Branch (Madrid, Espanya)) ; Osorio, Ana (Spanish National Cancer Research Centre. Human Cancer Genetics Programme (Madrid, Espanya)) ; Benítez, Javier (Spanish National Cancer Research Centre. Human Cancer Genetics Programme (Madrid, Espanya)) ; Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales, y Tecnológicas (Madrid, Espanya)) ; Heikkinen, Tuomas (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Tominaga, Kaoru (The University of Texas Health Science Center at San Antonio) ; Cerón, Julián (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Antoniou, Antonis C. (University of Cambridge. Department of Public Health and Primary Care) ; Fert Ferrer, Sandra (Hôtel Dieu Centre Hospitalier (Chambéry, França)) ; Collonge-Rame, Marie-Agnès (Centre Hospitalier Universitaire de Besançon (Besançon, França)) ; Mortemousque, Isabelle (Centre Hospitalier Universitaire Bretonneau (Tours, França)) ; McGuffog, Lesley (University of Cambridge. Department of Public Health and Primary Care) ; Chenevix-Trench, Georgia (Queensland Institute of Medical Research (Brisbane, Austràlia)) ; Pereira-Smith, Olivia M. (The University of Texas Health Science Center at San Antonio) ; Nevanlinna, Heli (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ; Hamann, Ute (Deutsches Krebsforschungszentrum (Heidelberg, Alemanya)) ; Torres, Diana (Pontificia Universidad Javeriana. Instituto de Genética Humana (Bogota, Colòmbia)) ; Caligo, Maria Adelaide (University Hospital of Pisa. Section of Genetic Oncology (Pisa, Itàlia)) ; Godwin, Andrew K. (University of Kansas Medical Center. Department of Pathology and Laboratory MedicineCenter (Kansas, Estats Units d'Amèrica)) ; Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology. Laboratory of Molecular Oncology (Sant Petersburg, Rússia)) ; Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics. Hematology, Oncology and Transfusion Medicine Center (Vilnius, Lituània)) ; Sinilnikova, Olga M. (Centre Hospitalier Universitaire de Lyon. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents (Lyon, França)) ; Stoppa-Lyonnet, Dominique (Institut Curie. Service de Génétique Oncologique (Paris, França)) ; Mazoyer, Sylvie (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ; Verny-Pierre, Carole (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ; Castera, Laurent (Institut Curie. Service de Génétique Oncologique (Paris, França)) ; de Pauw, Antoine (Institut Curie. Service de Génétique Oncologique (Paris, França)) ; Bignon, Yves-Jean (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ; Uhrhammer, Nancy (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ; Peyrat, Jean-Philippe (Centre Oscar Lambret. Laboratoire d'Oncologie Moléculaire Humaine (Lille, França)) ; Vennin, Philippe (Centre Oscar Lambret. Consultation d'Oncogénétique (Lille, França)) ; The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) ; The Netherlands Cancer Institute. Hereditary Breast and Ovarian Cancer Group (HEBON) ; University of Utah School of Medicine. Breast Cancer Family Registry (Salt Lake City, Estats Units d'Amèrica) ; Lund University. Swedish Breast Cancer Study (Lund, Suècia) ; Fédération Nationale des Centres de Lutte Contre le Cancer. Groupe Génétique et Cancer (Lyon, França)
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. [...]
2011 - 10.1186/bcr2862
Breast cancer research, Vol. 13, Núm. R40 (4 2011) -14  
5.
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, Elsa (Universitat Autónoma de Barcelona. Department of Genetics and Microbiology) ; 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 la Fe (Valencia). Unit of Pediatric Hematology) ; 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
The American Journal of Human Genetics, Vol. 80, Núm. 5 (2007) , p. 895-910  

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1 Schindler, D.
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