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11 p, 1.2 MB |
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
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Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ;
Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ;
Allen, William (Fullerton Genetics Center, Asheville) ;
Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ;
Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ;
Barakat, Bushra A.Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ;
Barraza-García, Jimena (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ;
Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ;
Cruz-Rojo, Jaime (Hospital 12 Octubre. Department of Pediatric Endocrinology & Dysmorphology) ;
Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ;
Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ;
GOSgene (UCL Great Ormond Street Institute of Child Health) ;
Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ;
Jobling, Rebekah (The Hospital for Sick Children, Toronto) ;
Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ;
Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ;
Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ;
Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ;
Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ;
Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ;
Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ;
Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ;
Pujol i Calvet, M. Roser (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) ;
Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ;
Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ;
Stevens, Paul (Cytogenetics Department, Viapath Analytics) ;
Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ;
Turner, Lesley (Memorial University of Newfoundland) ;
Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ;
Wilson, Carolyn (Fullerton Genetics Center) ;
Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ;
Zahavich, Laura (The Hospital for Sick Children) ;
Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Center. Department of Genetics) ;
Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ;
Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ;
Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ;
Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ;
Heath, Karen E. (Universidad Autónoma de Madrid. Institute of Medical and Molecular Genetics and Skeletal dysplasia multidisciplinary Unit) ;
Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine)
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 -  10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231
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29 p, 2.6 MB |
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia
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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 (María 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
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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
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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
American journal of human genetics, Vol. 80, Núm. 5 (2007) , p. 895-910
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