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- [41] Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan CareGENES, 2020, 11 (07) : 1 - 15Stark, Veronika C.论文数: 0 引用数: 0 h-index: 0机构: Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, GermanyHensen, Flemming论文数: 0 引用数: 0 h-index: 0机构: Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, GermanyKutsche, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, GermanyKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, GermanyOlfe, Jakob论文数: 0 引用数: 0 h-index: 0机构: Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, GermanyWiegand, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germanyvon Kodolitsch, Yskert论文数: 0 引用数: 0 h-index: 0机构: Univ Heart & Vasc Ctr Hamburg, Cardiol, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, GermanyKozlik-Feldmann, Rainer论文数: 0 引用数: 0 h-index: 0机构: Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, GermanyMueller, Gotz C.论文数: 0 引用数: 0 h-index: 0机构: Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, GermanyMir, Thomas S.论文数: 0 引用数: 0 h-index: 0机构: Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germany Univ Heart & Vasc Ctr Hamburg, Pediat Cardiol, Martinistr 52, D-20246 Hamburg, Germany
- [42] Rare variants in the FBN1 gene are associated with sporadic dilated cardiomyopathy in a Chinese Han populationJOURNAL OF CARDIOVASCULAR AGING, 2023, 3 (03):Wu, Dongyang论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaSun, Yang论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaLi, Chenze论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaXiao, Lei论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaDai, Jiaqi论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaChen, Yanghui论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaChen, Peng论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaWang, Hong论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaYu, Bo论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaWei, Haoran论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaLi, Rui论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaSong, Xiuli论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaYu, Ting论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaShi, Leming论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Sch Life Sci, Collaborat Innovat Ctr Genet & Dev, Shanghai 200438, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R ChinaWang, Dao Wen论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Hubei Key Lab Genet & Mol Mech Cardiol Disorders, Wuhan 430030, Hubei, Peoples R China Huazhong Univ Sci & Technol, Tongji Hosp, Dept Internal Med, Div Cardiol,Tongji Med Coll, 1095 Jiefang Ave, Wuhan 430030, Hubei, Peoples R China
- [43] A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (01) : 44 - 51Klemenzdottir, Elin Ola论文数: 0 引用数: 0 h-index: 0机构: Landspitali Univ Hosp, Dept Pediat, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandArnadottir, Gudny Anna论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandJensson, Brynjar Orn论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandJonasdottir, Adalbjorg论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandKatrinardottir, Hildigunnur论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandFridriksdottir, Run论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandJonasdottir, Aslaug论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandSigurdsson, Asgeir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandGudjonsson, Sigurjon Axel论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandJonsson, Jon Johannes论文数: 0 引用数: 0 h-index: 0机构: Univ Iceland, Fac Med, Reykjavik, Iceland Landspitali Univ Hosp, Dept Genet, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandStefansdottir, Vigdis论文数: 0 引用数: 0 h-index: 0机构: Landspitali Univ Hosp, Dept Genet, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandDanielsen, Ragnar论文数: 0 引用数: 0 h-index: 0机构: Landspitali Univ Hosp, Dept Cardiol, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandPalsdottir, Astridur论文数: 0 引用数: 0 h-index: 0机构: Univ Iceland, Inst Expt Pathol Keldur, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandJonsson, Hakon论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, Iceland论文数: 引用数: h-index:机构:Magnusson, Olafur Thor论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandThorsteinsdottir, Unnur论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandBjornsson, Hans Tomas论文数: 0 引用数: 0 h-index: 0机构: Landspitali Univ Hosp, Dept Pediat, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland Landspitali Univ Hosp, Dept Genet, Reykjavik, Iceland Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandStefansson, Kari论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, IcelandSulem, Patrick论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen Inc, Reykjavik, Iceland Landspitali Univ Hosp, Dept Pediat, Reykjavik, Iceland
- [44] A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndromeEuropean Journal of Human Genetics, 2024, 32 : 44 - 51Elin Ola Klemenzdottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsGudny Anna Arnadottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsBrynjar Orn Jensson论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsAdalbjorg Jonasdottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsHildigunnur Katrinardottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsRun Fridriksdottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsAslaug Jonasdottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsAsgeir Sigurdsson论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsSigurjon Axel Gudjonsson论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsJon Johannes Jonsson论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsVigdis Stefansdottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsRagnar Danielsen论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsAstridur Palsdottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsHakon Jonsson论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsAgnar Helgason论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsOlafur Thor Magnusson论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsUnnur Thorsteinsdottir论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsHans Tomas Bjornsson论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsKari Stefansson论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of PediatricsPatrick Sulem论文数: 0 引用数: 0 h-index: 0机构: Landspitali University Hospital,Department of Pediatrics
- [45] Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic eventsGENETICS IN MEDICINE, 2015, 17 (03) : 177 - 187Baudhuin, Linnea M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55902 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55902 USAKotzer, Katrina E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55902 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55902 USALagerstedt, Susan A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55902 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55902 USA
- [46] Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (09) : 930 - 935de Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsPals, Gerard论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsOdink, Roelof论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsHamel, Ben C. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
- [47] Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndromeEuropean Journal of Human Genetics, 2007, 15 : 930 - 935Bert B A de Vries论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsGerard Pals论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsRoelof Odink论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBen C J Hamel论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human Genetics
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