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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: 1693مصطلحات 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 -
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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 -
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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 -
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المؤلفون: Charmaine Havenga, Neil V. Morgan, Ian C. Pearson, Atieh Hajianpour, Judith C. W. Marsh, Laura H. Goldstein, Christopher G. Mathew, M. Murer-Orlando, Nicola Foot, Farkondeh Birjandi, Sheila P. Mohan, Thomas Pearson, Elena Samochatova, Rachel A. Gibson, Irene Roberts, Inderjeet Dokal, Juan C. Llerena, Richard J. Cohn, R. David Milner, Thomy J. L. de Ravel, Sarah E. Ball, Stander Jansen, Isabel M. Marques, Pushpa Vasudevan, I Kesterton
المساهمون: Faculty of Medicine and Pharmacy, Clinical sciences, Medical Genetics
مصطلحات موضوعية: Heterozygote, Cell Cycle Proteins, Biology, Polymerase Chain Reaction, law.invention, Fanconi anemia, law, Fanconi Anemia/genetics, Genetics, medicine, Humans, Gene, Genetics (clinical), Polymerase chain reaction, Polymorphism, Single-Stranded Conformational, Polymorphism, Genetic, Fanconi Anemia Complementation Group C Protein, Homozygote, Bone marrow failure, Proteins, Nuclear Proteins, Single-strand conformation polymorphism, Heterozygote advantage, medicine.disease, Molecular biology, Fanconi Anemia Complementation Group Proteins, Complementation, DNA-Binding Proteins, Restriction site, Fanconi Anemia, Proteins/genetics, mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601451df0deb90420c7ce36a9618b13dTest
https://doi.org/10.1002Test/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co;2-f -
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المؤلفون: Stander Jansen, Richard J. Cohn, T. De Ravel, D Ford, Sarah E. Ball, Rachel A. Gibson, Anna Savoia, Charmaine Havenga, Irene Roberts, R. D. G. Milner
المساهمون: Faculty of Medicine and Pharmacy, Clinical sciences, Medical Genetics
مصطلحات موضوعية: Male, Fanconi anemia, complementation group C, Locus (genetics), Biology, Gene mapping, Fanconi anemia, Genetic linkage, Fanconi Anemia/genetics, hemic and lymphatic diseases, Genetics, medicine, Humans, Genetics (clinical), Chromosome Mapping, medicine.disease, Molecular biology, Pedigree, Complementation, Fanconi Anemia, Genetic marker, genetic markers, Female, Chromosome breakage, Polymorphism, Restriction Fragment Length, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c3ddfb6bb9114cafdca75095afd1a6Test
https://hdl.handle.net/20.500.14017/ff04abbf-f8b9-4c5e-88e7-3fa531c240e2Test