المؤلفون: Block, Ines, Mateu-Regué, Àngels, Do, Thi Tuyet Nhu, Miceikaite, Ieva, Sdogati, Daniel, Larsen, Martin J, Hao, Qin, Nielsen, Henriette Roed, Boonen, Susanne E, Skytte, Anne-Bine, Jensen, Uffe Birk, Høffding, Louise K, De Nicolo, Arcangela, Viel, Alessandra, Tudini, Emma, Parsons, Michael T, Hansen, Thomas V O, Rossing, Maria, Kruse, Torben A, Spurdle, Amanda B, Thomassen, Mads

المصدر: Block , I , Mateu-Regué , À , Do , T T N , Miceikaite , I , Sdogati , D , Larsen , M J , Hao , Q , Nielsen , H R , Boonen , S E , Skytte , A-B , Jensen , U B , Høffding , L K , De Nicolo , A , Viel , A , Tudini , E , Parsons , M T , Hansen , T V O , Rossing , M , Kruse , T A , Spurdle , A B & Thomassen , M 2024 , ' ....

مصطلحات موضوعية: Humans, Male, BRCA1 Protein/genetics, Fanconi Anemia/genetics, Breast Neoplasms, Exons/genetics, Mitomycin, Phenotype, Fanconi Anemia, Variant classification, BRCA1, Dual carrier, Transcription activation domain assay, Exon duplication

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/5a168379-1cad-46ed-bd4b-53fd38f5a4c4Test

الإتاحة: https://doi.org/10.1186/s13058-023-01755-9Test
https://portal.findresearcher.sdu.dk/da/publications/5a168379-1cad-46ed-bd4b-53fd38f5a4c4Test
https://findresearcher.sdu.dk/ws/files/253736824/s13058-023-01755-9.pdfTest

المؤلفون: Sato, Koichi, Brandsma, Inger, van Rossum-Fikkert, Sari E, Verkaik, Nicole, Oostra, Anneke B, Dorsman, Josephine C, van Gent, Dik C, Knipscheer, Puck, Kanaar, Roland, Zelensky, Alex N

المساهمون: Hubrecht Institute with UMC

مصطلحات موضوعية: Animals, BRCA2 Protein/metabolism, Carrier Proteins/metabolism, Cell Cycle Proteins/metabolism, Cell Line, DNA Damage, DNA Repair, Fanconi Anemia/genetics, Heat-Shock Proteins/metabolism, Homologous Recombination, Humans, Mice, Protein Binding, Proteolysis, Rad51 Recombinase/metabolism, Xenopus, Genetics, Research Support, Non-U.S. Gov't, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/442169Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/442169Test

المؤلفون: van Twest, Sylvie, Deans, Andrew

المساهمون: St Vincent's Institute of Medical Research, 9 Princes St, Fitzroy VIC 3065, Australia

مصطلحات موضوعية: FANCB, Fanconi Anemia, Ubiquitination, VACTERL-H, Cancer pre-disposition, Chromosome X, Genes Section, Amino Acid Sequence, Chromatography, High Pressure Liquid, DNA-Binding Proteins/chemistry/genetics/metabolism, Dimerization, Fanconi Anemia Complementation Group D2 Protein/chemistry/genetics/*metabolism, Fanconi Anemia Complementation Group Proteins/chemistry/genetics/*metabolism, Humans, Mass Spectrometry, Microscopy, Electron, Protein Multimerization, Protein Structure, Tertiary, Substrate Specificity, Cell Line, DNA/genetics/metabolism, DNA-Binding Proteins/metabolism, Fanconi Anemia/genetics/*metabolism, Fanconi Anemia Complementation Group A Protein/metabolism, Fanconi Anemia Complementation Group C Protein/metabolism, Fanconi Anemia Complementation Group D2 Protein/genetics/*metabolism, Fanconi Anemia Complementation Group E Protein/metabolism

العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Genes/FANCBID49864chXp22.htmlTest; Sylvie, van Twest; Andrew, Deans. FANCB (FA complementation group B). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2020, 1, p. 18-21; http://hdl.handle.net/2042/70644Test; https://doi.org/10.4267/2042/70644Test

الإتاحة: https://doi.org/10.4267/2042/70644Test
http://hdl.handle.net/2042/70644Test

المؤلفون: Rosselli, Filippo

المساهمون: UMR8200 CNRS, Gustave Roussy Institute, Universié Paris-Saclay - Université Paris-Sud

مصطلحات موضوعية: Fanconi anemia, DNA repair, Replication, Acute Myeloid Leukemia, Bone Marrow Failure, Kprones Section, Animals, DNA/genetics, DNA Damage, DNA Repair, DNA Replication, Fanconi Anemia/*genetics/metabolism, Humans, Bone Marrow/metabolism/pathology, Chromosome Fragility/genetics, DNA Helicases/*genetics, Fanconi Anemia/*genetics/pathology/*therapy, Genetic Therapy, Hematopoietic Stem Cell Transplantation, Mutation, RNA Editing/genetics, Cell Survival

العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Kprones/FAID10001.htmlTest; Filippo, Rosselli. Fanconi anemia. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017, 7, p. 272-278; http://hdl.handle.net/2042/68269Test; https://doi.org/10.4267/2042/68269Test

الإتاحة: https://doi.org/10.4267/2042/68269Test
http://hdl.handle.net/2042/68269Test

المؤلفون: Katheryn Meek, Ya-Ting Yang, Marilia Takada, Maciej Parys, Marlee Richter, Alexander I. Engleberg, Tuddow Thaiwong, Rachel L. Griffin, Peter Z. Schall, Alana J. Kramer, Vilma Yuzbasiyan-Gurkan

المصدر: Meek, K, Yang, Y-T, Takada, M, Parys, M, Richter, M, Engelberg, A, Thaiwong, T, Griffin, R, Schall, P, Kramer, A & Yuzbasiyan Gurkan, V 2022, ' Identification of a Hypomorphic FANCG Variant in Bernese Mountain Dogs ', Genes, vol. 13, no. 10, 1693 . https://doi.org/10.3390/genes13101693Test
Genes; Volume 13; Issue 10; Pages: 1693

مصطلحات موضوعية: Bernese mountain dog, histiocytic sarcoma, fanconi anemia, cancer, comparative genetics, Histiocytic Sarcoma/genetics, Fanconi Anemia Complementation Group G Protein/genetics, Mice, Dogs, Fanconi Anemia, Fanconi Anemia/genetics, Mutation, Genetics, Humans, Animals, Histiocytic Sarcoma, Cisplatin, Fanconi Anemia Complementation Group G Protein, Genetics (clinical), Alleles

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8430517b02f33916ae4e83dcfe542442Test
https://pubmed.ncbi.nlm.nih.gov/36292578Test

المساهمون: Kyong Yun Lee, Kee Yang Chung, Hyeon-Sook Koo, Chung, Kee Yang

مصطلحات موضوعية: Animals, Caenorhabditis elegans/genetics, Caenorhabditis elegans/metabolism, DNA/chemistry, DNA/metabolism, DNA Damage, DNA Helicases/genetics, DNA Helicases/metabolism, DNA Repair, Fanconi Anemia/genetics, Fanconi Anemia Complementation Group Proteins/genetics, Fanconi Anemia Complementation Group Proteins/metabolism, Phosphorylation, Cell cycle checkpoint, Fanconi anemia, FANCM, FANCI, Nuclear foci

وصف الملف: 374~382

العلاقة: DNA REPAIR; J03135; OAK-2010-00460; https://ir.ymlib.yonsei.ac.kr/handle/22282913/100860Test; http://www.sciencedirect.com/science/article/pii/S1568786409003462Test; T201000890; DNA REPAIR, Vol.9(4) : 374-382, 2010

الإتاحة: https://doi.org/10.1016/j.dnarep.2009.12.018Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/100860Test
http://www.sciencedirect.com/science/article/pii/S1568786409003462Test

المؤلفون: Hoeijmakers, J.H.J. (Jan), Bootsma, D. (Dirk)

المصدر: Nature Genetics vol. 1 no. 5, pp. 313-314

مصطلحات موضوعية: Amino Acid Sequence, Ataxia Telangiectasia/genetics, Bloom Syndrome/genetics, DNA Damage, DNA Repair/*genetics, Fanconi Anemia/genetics, Genes, Recessive, Human, Point Mutation, Sister Chromatid Exchange, Xeroderma Pigmentosum/genetics

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/3039Test; urn:hdl:1765/3039

الإتاحة: https://doi.org/10.1038/ng0892-313Test
http://repub.eur.nl/pub/3039Test

المؤلفون: H Joenje, Stander Jansen, Rachel A. Gibson, Charmaine Havenga, Neil V. Morgan, Eliane Gluckman, Alex J. Tipping, Thomas Pearson, Christopher G. Mathew, L P Kuyt, T. De Ravel

المساهمون: Clinical sciences, Medical Genetics, Faculty of Medicine and Pharmacy

المصدر: Proceedings of the National Academy of Sciences. 98:5734-5739

مصطلحات موضوعية: Male, Molecular Sequence Data, Population, Biology, Polymorphism, Single Nucleotide, South Africa, Fanconi Anemia/genetics, Fanconi anemia, medicine, Humans, Allele, education, DNA Primers, Genetics, education.field_of_study, Multidisciplinary, Base Sequence, Genetic heterogeneity, Haplotype, Biological Sciences, medicine.disease, Founder Effect, FANCA, Pedigree, Fanconi Anemia, Haplotypes, Microsatellite, Female, mutation, Genealogy and Heraldry, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc91f87f7602e427f46a8594ca5f4f37Test
https://doi.org/10.1073/pnas.091402398Test

المؤلفون: Bouchlaka, Chiraz, Abdelhak, Sonia, Dellagi, Koussay, Tunisie, Groupe, d'Etude de La Maladie de Fanconi En

المساهمون: Laboratoire d'Immunopathologie, Vaccinologie et Génétique Moléculaire (LVGM), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)

المصدر: ISSN: 0041-4131 ; Tunisie Medicale ; https://hal.science/hal-01974071Test ; Tunisie Medicale, 2004, 82 (5), pp.402-10.

مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Infant, MESH: Male, MESH: Mutation, MESH: Pedigree, MESH: Tunisia, MESH: Bone Marrow Transplantation, MESH: Child, Preschool, MESH: Fanconi Anemia/classification, MESH: Fanconi Anemia/genetics, MESH: Fanconi Anemia/surgery, MESH: Female, MESH: Humans, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15453041; hal-01974071; https://hal.science/hal-01974071Test; PUBMED: 15453041

الإتاحة: https://hal.science/hal-01974071Test

المؤلفون: Bouchlaka, Chiraz, Abdelhak, Sonia, Amouri, Ahlem, Ben Abid, Hela, Hadiji, Sondes, Frikha, Mounir, Ben Othman, Tarek, Amri, Fethi, Ayadi, Hammadi, Hachicha, Mongia, Rebaï, Ahmed, Saad, Ali, Dellagi, Koussay, Group, Tunisian Fanconi Anemia Study

المساهمون: Laboratoire d'Immunopathologie, Vaccinologie et Génétique Moléculaire (LVGM), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Hôpital Universitaire Aziza Othmana [Tunis], Hedi Chaker Hospital [Sfax], Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Centre National de Greffe de la Moëlle osseuse Tunis (CNGMO), Hôpital de Kairouan, Faculté de médecine - Faculty of Medicine [Sfax, Tunisie] (FMS), Université de Sfax - University of Sfax, Centre de Biotechnologie de Sfax (CBS), CHU Farhat Hached [Sousse], This work was supported by founds from the Tunisian State Secretariat for Scientific and Technological Research., We acknowledge the participation to this investigation of other members of the Tunisian Fanconi Anemia Study Group, namely Dr. L. Aissaoui, Dr. R. Belakhal, Dr. Z. Belhaj Ali, Dr. B. Meddeb, Dr. A. Hafsia, Dr. M. Elloumi, Dr. F. Fakhfakh PhD, Dr. A. Abdelkafi, Dr. L. Tordjman, Dr. F. Mellouli, Dr. S. Ladeb, Dr. A. Ben Abdeladhim, Dr. H. Sennana, Dr. H. Elghezal, Dr. H. Elomri, Dr. A. Laatiri, Dr. A. Khelif, Dr. S. Ennabli, and Dr. M. Trudi. We thank N. Labbane, S. Chakroun, and M. Ben Fadhel, for their technical assistance. We gratefully acknowledge patients and their families for their participation in this study. We thank Hans Joenje for fruitful discussion

المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2003, 48 (7), pp.352--361. ⟨10.1007/s10038-003-0037-z⟩

مصطلحات موضوعية: Male, MESH: Sequence Analysis, DNA, Time Factors, MESH: Introns, Genetic Linkage, DNA Mutational Analysis, MESH: Base Sequence, MESH: Genetic Markers, MESH: Genotype, FANCE, FANCF, Fanconi anemia, FANCG, hemic and lymphatic diseases, MESH: DNA, Complementary/metabolism, MESH: DNA Mutational Analysis, Genetics (clinical), Genetics, Fanconi Anemia Complementation Group A Protein, Homozygote, Chromosome Mapping, Exons, Disease gene identification, DNA-Binding Proteins, Phenotype, MESH: DNA-Binding Proteins, Female, MESH: Homozygote, Genetic Markers, MESH: Fanconi Anemia/genetics, Fanconi anemia, complementation group C, DNA, Complementary, Genotype, Molecular Sequence Data, MESH: Genetic Linkage, Biology, MESH: Phenotype, MESH: Polymorphism, Genetic, FANCD2, medicine, MESH: Fanconi Anemia Complementation Group A Protein, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Alleles, Family Health, MESH: Humans, MESH: Molecular Sequence Data, Polymorphism, Genetic, Base Sequence, MESH: Alleles, MESH: Time Factors, Proteins, MESH: Haplotypes, Sequence Analysis, DNA, medicine.disease, Molecular biology, MESH: Male, FANCA, Introns, Fanconi Anemia, MESH: Lod Score, MESH: Proteins/genetics, Haplotypes, MESH: Gene Deletion, Mutation, MESH: Mutation, MESH: Family Health, MESH: Microsatellite Repeats, Lod Score, MESH: Chromosome Mapping, MESH: Exons, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Gene Deletion, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab079aff3119a761cb31f9cdee92312Test
https://pubmed.ncbi.nlm.nih.gov/12827451Test