Similar articles for PMID: 24798638

Year	Number of Results
2003	1
2005	1
2006	1
2007	2
2008	3
2009	5
2010	5
2011	3
2012	6
2013	9
2014	9
2015	7
2016	7
2017	9
2018	8
2019	2
2020	2
2021	3
2022	4
2024	0

1

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.

Matyas G, Naef P, Tollens M, Oexle K. Matyas G, et al. Am J Med Genet A. 2014 Aug;164A(8):2141-3. doi: 10.1002/ajmg.a.36593. Epub 2014 May 5. Am J Med Genet A. 2014. PMID: 24798638 No abstract available.

2

Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features".

Rienhoff HY Jr. Rienhoff HY Jr. Am J Med Genet A. 2014 Aug;164A(8):2144-5. doi: 10.1002/ajmg.a.36603. Epub 2014 May 9. Am J Med Genet A. 2014. PMID: 24817670 No abstract available.

3

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M. Rienhoff HY Jr, et al. Am J Med Genet A. 2013 Aug;161A(8):2040-6. doi: 10.1002/ajmg.a.36056. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824657 Free PMC article.

4

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Kuechler A, Altmüller J, Nürnberg P, Kotthoff S, Kubisch C, Borck G. Kuechler A, et al. Mol Cell Probes. 2015 Oct;29(5):330-4. doi: 10.1016/j.mcp.2015.07.003. Epub 2015 Jul 13. Mol Cell Probes. 2015. PMID: 26184463

5

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.

Mégarbané A, Deepthi A, Obeid M, T Al-Ali M, Gambarini A, El-Hayek S. Mégarbané A, et al. Am J Med Genet A. 2020 May;182(5):1230-1235. doi: 10.1002/ajmg.a.61508. Epub 2020 Feb 5. Am J Med Genet A. 2020. PMID: 32022420

6

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Valenzuela I, Fernández-Alvarez P, Munell F, Sanchez-Montanez A, Giralt G, Vendrell T, Tizzano EF. Valenzuela I, et al. Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24. Eur J Med Genet. 2017. PMID: 28344185 Review.

7

Heritable thoracic aortic aneurysm disease: recognizing phenotypes, exploring genotypes.

Braverman AC. Braverman AC. J Am Coll Cardiol. 2015 Apr 7;65(13):1337-1339. doi: 10.1016/j.jacc.2014.12.056. J Am Coll Cardiol. 2015. PMID: 25835446 Free article. No abstract available.

8

Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.

Sheikhzadeh S, Brockstaedt L, Habermann CR, Sondermann C, Bannas P, Mir TS, Staebler A, Seidel H, Keyser B, Arslan-Kirchner M, Kutsche K, Berger J, Blankenberg S, von Kodolitsch Y. Sheikhzadeh S, et al. Clin Genet. 2014 Dec;86(6):545-51. doi: 10.1111/cge.12308. Epub 2013 Dec 17. Clin Genet. 2014. PMID: 24344637

9

Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.

Pees C, Michel-Behnke I, Hagl M, Laccone F. Pees C, et al. Clin Genet. 2014 Dec;86(6):552-7. doi: 10.1111/cge.12314. Epub 2013 Dec 4. Clin Genet. 2014. PMID: 24199744

10

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P. Marsili L, et al. Clin Genet. 2020 May;97(5):723-730. doi: 10.1111/cge.13700. Epub 2020 Jan 16. Clin Genet. 2020. PMID: 31898322

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

77 results

Results by year