المؤلفون: Demuth I; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany. ilja.demuth@charite.de, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R

المصدر: Neurogenetics [Neurogenetics] 2011 Nov; Vol. 12 (4), pp. 273-82. Date of Electronic Publication: 2011 Oct 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Ataxia Telangiectasia/*genetics , Cell Cycle Proteins/*genetics , DNA-Binding Proteins/*genetics , Protein Serine-Threonine Kinases/*genetics , Tumor Suppressor Proteins/*genetics, Adolescent ; Adult ; Ataxia Telangiectasia Mutated Proteins ; Cell Cycle Proteins/metabolism ; Child ; Child, Preschool ; DNA Mutational Analysis ; DNA-Binding Proteins/metabolism ; Female ; Haplotypes ; Humans ; Male ; Phenotype ; Protein Serine-Threonine Kinases/metabolism ; RNA Splicing ; Tumor Suppressor Proteins/metabolism

المؤلفون: Dutrannoy V; Institute of Human Genetics, Charitè Universitätsmedizin, Berlin, Germany., Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nürnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R

المصدر: Human mutation [Hum Mutat] 2010 Sep; Vol. 31 (9), pp. 1059-68.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: DNA Repair Enzymes/*genetics , DNA-Binding Proteins/*genetics , Mutation/*genetics , Nijmegen Breakage Syndrome/*genetics , Nijmegen Breakage Syndrome/*pathology, Base Sequence ; Blotting, Western ; Cell Cycle ; Child ; Child, Preschool ; Chromosomal Instability/genetics ; Chromosomes, Human/genetics ; DNA Mutational Analysis ; Genome, Human/genetics ; Homozygote ; Humans ; Infant ; Molecular Sequence Data ; Phenotype ; Polymorphism, Single Nucleotide/genetics

المؤلفون: Digweed M; Institut für Humangenetik, Charité - Campus Virchow-Klinikum, Humboldt Universität zu Berlin, Germany. martin.digweed@charite.de, Demuth I, Rothe S, Scholz R, Jordan A, Grötzinger C, Schindler D, Grompe M, Sperling K

المصدر: Oncogene [Oncogene] 2002 Jul 25; Vol. 21 (32), pp. 4873-8.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8711562 Publication Model: Print Cited Medium: Print ISSN: 0950-9232 (Print) Linking ISSN: 09509232 NLM ISO Abbreviation: Oncogene Subsets: MEDLINE

مواضيع طبية MeSH: Antigens, Polyomavirus Transforming/*metabolism , DNA Repair/*physiology , DNA-Binding Proteins/*metabolism , Fibroblasts/*metabolism , Simian virus 40/*immunology, Antigens, Polyomavirus Transforming/genetics ; Cell Nucleus/genetics ; Cell Nucleus/metabolism ; Cell Nucleus/virology ; Cells, Cultured ; DNA-Binding Proteins/genetics ; Fibroblasts/virology ; Gene Expression Regulation, Viral ; Humans ; MRE11 Homologue Protein ; Simian virus 40/metabolism

المؤلفون: Digweed M; Institut für Humangenetik, Charité-Campus Virchow-Klinikum, Humboldt Universität zu Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. martin.digweed@charite.de, Rothe S, Demuth I, Scholz R, Schindler D, Stumm M, Grompe M, Jordan A, Sperling K

المصدر: Carcinogenesis [Carcinogenesis] 2002 Jul; Vol. 23 (7), pp. 1121-6.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Irl Press At Oxford University Press Country of Publication: England NLM ID: 8008055 Publication Model: Print Cited Medium: Print ISSN: 0143-3334 (Print) Linking ISSN: 01433334 NLM ISO Abbreviation: Carcinogenesis Subsets: MEDLINE

مواضيع طبية MeSH: DNA Repair/*genetics , DNA-Binding Proteins/*genetics , Fanconi Anemia/*genetics , Fanconi Anemia/*metabolism, BRCA1 Protein/genetics ; BRCA1 Protein/metabolism ; Blotting, Western ; Cell Nucleus/genetics ; Cell Nucleus/metabolism ; Cells, Cultured/radiation effects ; DNA-Binding Proteins/metabolism ; Fibroblasts/radiation effects ; Fluorescent Antibody Technique ; Green Fluorescent Proteins ; Humans ; Luminescent Proteins/metabolism ; MRE11 Homologue Protein ; Rad51 Recombinase ; Retroviridae ; Transfection ; X-Rays