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Validation of Pathogenicity of Gene Variants in Fanconi Anemia Using Patient-derived Dermal Fibroblasts
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참고문헌 (9)
- Auerbach AD, "Fanconi anemia and its diagnosis", Mutat Res, 668, pp.4~10 (2009)
- Niedernhofer LJ, "Fanconi anemia(cross)linked to DNA repair", Cell, 123, pp.1191~1198 (2005)
- Knipscheer P, "The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair", Science, 326, pp.1698~1701 (2009)
- Ceccaldi R, "The Fanconi anaemia pathway : new players and new functions", Nat Rev Mol Cell Biol, 17, pp.337~349 (2016)
- Oostra AB, "Diagnosis of fanconi anemia : chromosomal breakage analysis", Anemia, 2012, pp.238731~ (2012)
- Matsushita N, "A FancD2-monoubiquitin fusion reveals hidden functions of Fanconi anemia core complex in DNA repair", Mol Cell, 19, pp.841~847 (2005)
- Hwa Jeen Lee, "A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis", Annals of Laboratory Medicine, 32(5), pp.380~384 (2012), 대한진단검사의학회
- "Fanconi Anemia Mutation Database" (2022)[URL]
- De Rocco D, "Molecular analysis of Fanconi anemia : the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology", Haematologica, 99, pp.1022~ (2014)
관련 논문AI추천
A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis강형진, 박성섭, 성문우, 이동순, 전종관, Hwa Jeen Lee, Jung Ae Lee, Seungman Park대한진단검사의학회 · Annals of Laboratory Medicine2012 · 제32권 제5호The First Case of Acute Myeloid Leukemia With Underlying Fanconi Anemia due to FANCF Variants in Korea김희진, 유건희, Cho Duck, Ju Hee Young, Kim Hyun-Young, Kim Sun-Hee, Shin Sunghwan, Suh Eunsang대한진단검사의학회 · Annals of Laboratory Medicine2023 · 제43권 제2호der(1)t(1;1)(p36;q10) as a Rare Variant of 1q Gain in Fanconi Anemia-Associated Myelodysplastic SyndromeSafavi Moeinadin, Vasei Mohammad대한진단검사의학회 · Annals of Laboratory Medicine2021 · 제41권 제2호RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G)이재련, 전사일, Gu Hyunjung, Hong Jinyoung, Lee Woochang, Min Won-Ki, Na Rae대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제3호Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes김보연, 김윤정, 신새암, 이경아, 최유정대한진단검사의학회 · Laboratory Medicine Online2022 · 제12권 제3호Evaluating the Cumulative Impact of Ionizing Radiation Exposure With Diagnostic GeneticsHai-Qiang Wang,대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제4호
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