Literature DB >> 15032979

An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family.

K M Summers, D Xu, J A West, J J McGill, A Galbraith, C M Whight, S L Brocque, M Nataatmadja, L K Kong, J Dondey, D Stark, M J West.   

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Year:  2004        PMID： 15032979     DOI： 10.1111/j..2004.00186.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Periosteal osteosarcoma and Marfan's syndrome: A case report and literature review.

Authors:  Guo-Ping Xie; Hui-Juan Song; Nan Jiang; Cheng-He Qin; Lei Wang; Shao-Yong Xu; Bin Yu
Journal:  Oncol Lett       Date:  2015-11-05       Impact factor: 2.967

2.  Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome.

Authors:  Kim M Summers; Sobia Raza; Erik van Nimwegen; Thomas C Freeman; David A Hume
Journal:  Eur J Hum Genet       Date:  2010-06-16       Impact factor: 4.246

3.  Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.

Authors:  Hongyi Li; Wei Qu; Bo Meng; Shuihua Zhang; Tao Yang; Shangzhi Huang; Huiping Yuan
Journal:  Mol Vis       Date:  2012-02-24       Impact factor: 2.367

4.  Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study.

Authors:  Aideen M McInerney-Leo; Jennifer West; Bettina Meiser; Malcolm West; Matthew A Brown; Emma Duncan
Journal:  Front Genet       Date:  2020-05-07       Impact factor: 4.599

5.  Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.

Authors:  Margaret R Davis; Erik Arner; Cairnan R E Duffy; Paul A De Sousa; Ingrid Dahlman; Peter Arner; Kim M Summers
Journal:  Mol Genet Metab       Date:  2016-06-23       Impact factor: 4.797

6.  Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.

Authors:  Aideen M McInerney-Leo; Jennifer West; Lawrie Wheeler; Paul J Leo; Kim M Summers; Lisa Anderson; Matthew A Brown; Malcolm West; Emma L Duncan
Journal:  Mol Genet Genomic Med       Date:  2020-01-16       Impact factor: 2.183
  6 in total

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