Literature DB >> 16283890

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.

C-S Ki, D-K Jin, S H Chang, J-E Kim, J-W Kim, B K Park, J-H Choi, I S Park, H-W Yoo.   

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Year:  2005        PMID： 16283890     DOI： 10.1111/j.1399-0004.2005.00535.x

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


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  10 in total

1.  2006 Curt Stern Award Address. Marfan syndrome: from molecules to medicines.

Authors:  Harry C Dietz
Journal:  Am J Hum Genet       Date:  2007-10       Impact factor: 11.025

2.  TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

Authors:  Ian M Campbell; Katarzyna E Kolodziejska; Michael M Quach; Varina Louise Wolf; Sau Wai Cheung; Seema R Lalani; Melissa B Ramocki; Pawel Stankiewicz
Journal:  Am J Med Genet A       Date:  2011-05-12       Impact factor: 2.802

Review 3.  Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Authors:  Takeshi Mizuguchi; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2006-10-24       Impact factor: 3.172

4.  Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.

Authors:  C Law; D Bunyan; B Castle; L Day; I Simpson; G Westwood; B Keeton
Journal:  J Med Genet       Date:  2006-08-02       Impact factor: 6.318

5.  Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

Authors:  Christopher P Barnett; David Chitayat; Timothy J Bradley; Yanting Wang; Aleksander Hinek
Journal:  Eur J Hum Genet       Date:  2011-01-26       Impact factor: 4.246

6.  Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.

Authors:  Scott A LeMaire; Hariyadarshi Pannu; Van Tran-Fadulu; Stacey A Carter; Joseph S Coselli; Dianna M Milewicz
Journal:  Nat Clin Pract Cardiovasc Med       Date:  2007-03

7.  Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

Authors:  Jeong Hoon Yang; Seung Tae Lee; Jee Ah Kim; Sung Hae Kim; Shin Yi Jang; Chang Seok Ki; Duk Kyung Kim
Journal:  J Korean Med Sci       Date:  2007-08       Impact factor: 2.153

8.  Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.

Authors:  Lin Zhang; Ling-Gen Gao; Ming Zhang; Xian-Liang Zhou
Journal:  Mol Vis       Date:  2012-01-11       Impact factor: 2.367

9.  Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm.

Authors:  Yang Li; Yu Kong; Weixun Duan; Shiqiang Yu; Xinmin Zhou; Yerong Hu; Jing-Song Ou; Dinghua Yi; Jinsheng Xie; Junming Zhu; Lizhong Sun; Yulin Li; Jie Du
Journal:  Eur J Hum Genet       Date:  2021-04-06       Impact factor: 5.351

10.  Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.

Authors:  Hang Yang; Yanyun Ma; Mingyao Luo; Guoyan Zhu; Yinhui Zhang; Binbin Li; Chang Shu; Zhou Zhou
Journal:  Orphanet J Rare Dis       Date:  2020-01-08       Impact factor: 4.123
  10 in total

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