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- [43] Genetic analysis of a novel FBN1 mutation in a pediatric Marfan syndrome patientINTRACTABLE & RARE DISEASES RESEARCH, 2024, 13 (03) : 178 - 184Zhang, Xiangdong论文数: 0 引用数: 0 h-index: 0机构: Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R China Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R ChinaZhou, Lixing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Dept Optometry, Wenzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Ophthalmol Coll, Wenzhou, Zhejiang, Peoples R China Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R ChinaLiu, Jiao论文数: 0 引用数: 0 h-index: 0机构: Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R China Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R ChinaShan, Qunda论文数: 0 引用数: 0 h-index: 0机构: Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R China Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R ChinaSong, Zhaoxia论文数: 0 引用数: 0 h-index: 0机构: Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R China Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R ChinaZhou, Fang论文数: 0 引用数: 0 h-index: 0机构: Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R China Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R ChinaLiu, Lifang论文数: 0 引用数: 0 h-index: 0机构: Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R China Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R ChinaLuo, Xia论文数: 0 引用数: 0 h-index: 0机构: Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R China Lishui Maternal & Child Hlth Care Hosp, Lishui, Zhejiang, Peoples R China
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- [47] Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathiesHUMAN MUTATION, 2021, 42 (12) : 1637 - 1647Chen, Ze-Xu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, 83 Fenyang Rd, Shanghai 200031, Peoples R China Fudan Univ, NHC Key Lab Myopia, Key Lab Myopia, Chinese Acad Med Sci, Shanghai, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaChen, Tian-Hui论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, 83 Fenyang Rd, Shanghai 200031, Peoples R China Fudan Univ, NHC Key Lab Myopia, Key Lab Myopia, Chinese Acad Med Sci, Shanghai, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaZhang, Min论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, 83 Fenyang Rd, Shanghai 200031, Peoples R China Fudan Univ, NHC Key Lab Myopia, Key Lab Myopia, Chinese Acad Med Sci, Shanghai, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaChen, Jia-Hui论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, 83 Fenyang Rd, Shanghai 200031, Peoples R China Fudan Univ, NHC Key Lab Myopia, Key Lab Myopia, Chinese Acad Med Sci, Shanghai, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaLan, Li-Na论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, 83 Fenyang Rd, Shanghai 200031, Peoples R China Fudan Univ, NHC Key Lab Myopia, Key Lab Myopia, Chinese Acad Med Sci, Shanghai, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaDeng, Michael论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, 83 Fenyang Rd, Shanghai 200031, Peoples R China Fudan Univ, NHC Key Lab Myopia, Key Lab Myopia, Chinese Acad Med Sci, Shanghai, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaZheng, Jia-Lei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, 83 Fenyang Rd, Shanghai 200031, Peoples R China Fudan Univ, NHC Key Lab Myopia, Key Lab Myopia, Chinese Acad Med Sci, Shanghai, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R ChinaJiang, Yong-Xiang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, 83 Fenyang Rd, Shanghai 200031, Peoples R China Fudan Univ, NHC Key Lab Myopia, Key Lab Myopia, Chinese Acad Med Sci, Shanghai, Peoples R China Shanghai Key Lab Visual Impairment & Restorat, Shanghai, Peoples R China Fudan Univ, Eye & ENT Hosp, Eye Inst, Shanghai, Peoples R China
- [48] Identification of gross deletions in FBN1 gene by MLPAHuman Genomics, 12Hang Yang论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceYanyun Ma论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceMingyao Luo论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceKun Zhao论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceYinhui Zhang论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceGuoyan Zhu论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceXiaogang Sun论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceFanyan Luo论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceLin Wang论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceChang Shu论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory ServiceZhou Zhou论文数: 0 引用数: 0 h-index: 0机构: Fuwai Hospital,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service
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- [50] Phenotypic Variability in Marfan Syndrome in a Family With a Novel Nonsense FBN1 Gene MutationREVISTA ESPANOLA DE CARDIOLOGIA, 2012, 65 (04): : 380 - 381Diaz de Bustamante, Aranzazu论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Mostoles, Unidad Genet, Madrid, Spain Hosp Univ Mostoles, Unidad Genet, Madrid, SpainRuiz-Casares, Eva论文数: 0 引用数: 0 h-index: 0机构: Genyca Innova, Genet Lab, Madrid, Spain Hosp Univ Mostoles, Unidad Genet, Madrid, SpainTeresa Darnaude, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Mostoles, Unidad Genet, Madrid, Spain Hosp Univ Mostoles, Unidad Genet, Madrid, SpainPerucho, Teresa论文数: 0 引用数: 0 h-index: 0机构: Genyca Innova, Genet Lab, Madrid, Spain Hosp Univ Mostoles, Unidad Genet, Madrid, SpainMartinez-Quesada, Gabriel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Mostoles, Med Interna Serv, Madrid, Spain Hosp Univ Mostoles, Unidad Genet, Madrid, Spain