Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome-Reference-Cited by-同舟云学术

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Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome

Published:2011-11-24 Issue:1 Volume:57 Page:52-56
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Yang Jeong Hoon,Ki Chang-Seok,Han Hyejin,Song Bong Gun,Jang Shin Yi,Chung Tae-Young,Sung Kiick,Lee Heung Jae,Kim Duk-Kyung

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2011130.pdf

Reference17 articles.

1. Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37, 275–281 (2005).

2. Loeys, B. L., Schwarze, U., Holm, T., Callewaert, B. L., Thomas, G. H., Pannu, H. et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N. Engl. J. Med. 355, 788–798 (2006).

3. Van Hemelrijk, C., Renard, M. & Loeys, B. The Loeys-Dietz syndrome: an update for the clinician. Curr. Opin. Cardiol. 25, 546–551 (2010).

4. Roman, M. J., Devereux, R. B., Kramer-Fox, R. & O’Loughlin, J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am. J. Cardiol. 64, 507–512 (1989).

5. Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, M., Harada, N., Morisaki, T. et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat. Genet. 36, 855–860 (2004).

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1. Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome;Surgical Neurology International;2022-03-18

2. Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders;Human Mutation;2018-07-12

3. Keep an eye out for the bifid uvula: yes please – as it is not always just an isolated congenital anomaly;Dental Update;2015-06-02

4. Cornea and Sclera;Ocular Pathology;2015

5. Loeys–Dietz syndrome in a Southeast Asian Hospital: a case series;European Journal of Pediatrics;2013-10-22

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