Similar articles for PMID: 30219046

Year	Number of Results
1993	1
1998	1
2001	1
2006	3
2007	2
2008	6
2009	8
2010	9
2011	11
2012	11
2013	12
2014	17
2015	13
2016	15
2017	12
2018	20
2019	19
2020	23
2021	27
2022	32
2023	6
2024	0

1

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A. Baban A, et al. BMC Med Genet. 2018 Sep 15;19(1):170. doi: 10.1186/s12881-018-0661-2. BMC Med Genet. 2018. PMID: 30219046 Free PMC article.

2

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.

Laterza D, Ritelli M, Zini A, Colombi M, Dell'Acqua ML, Vandelli L, Bigliardi G, Verganti L, Vallone S, Vincenzi C, Rosafio F, Ciolli L, Calabrese O, Nichelli PF, Picchetto L. Laterza D, et al. Eur J Med Genet. 2019 Oct;62(10):103727. doi: 10.1016/j.ejmg.2019.103727. Epub 2019 Jul 18. Eur J Med Genet. 2019. PMID: 31326520

3

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M. Drera B, et al. Orphanet J Rare Dis. 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24. Orphanet J Rare Dis. 2009. PMID: 19883511 Free PMC article.

4

Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome.

Seike Y, Matsuda H, Ishibashi-Ueda H, Morisaki H, Morisaki T, Minatoya K, Ogino H. Seike Y, et al. Ann Thorac Cardiovasc Surg. 2021 Feb 20;27(1):56-63. doi: 10.5761/atcs.oa.20-00223. Epub 2021 Jan 6. Ann Thorac Cardiovasc Surg. 2021. PMID: 33408307 Free PMC article.

5

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.

Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroğlu K. Kiliç E, et al. Turk J Pediatr. 2012 Mar-Apr;54(2):198-202. Turk J Pediatr. 2012. PMID: 22734312

6

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Starr LJ, Lindsay ME, Lino Cardenas CL, Yetman AT. Starr LJ, et al. Am J Med Genet A. 2023 Mar;191(3):786-793. doi: 10.1002/ajmg.a.63075. Epub 2022 Dec 30. Am J Med Genet A. 2023. PMID: 36584339

7

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.

Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur Ch, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A. Jamsheer A, et al. J Appl Genet. 2009;50(4):405-10. doi: 10.1007/BF03195701. J Appl Genet. 2009. PMID: 19875893 Review.

8

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Camerota L, Ritelli M, Wischmeijer A, Majore S, Cinquina V, Fortugno P, Monetta R, Gigante L, Marfan Syndrome Study Group Tor Vergata University Hospital, Sangiuolo FC, Novelli G, Colombi M, Brancati F. Camerota L, et al. Genes (Basel). 2019 Sep 28;10(10):764. doi: 10.3390/genes10100764. Genes (Basel). 2019. PMID: 31569402 Free PMC article. Review.

9

Loeys-Dietz Syndrome.

Loeys BL, Dietz HC. Loeys BL, et al. 2008 Feb 28 [updated 2018 Mar 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Feb 28 [updated 2018 Mar 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301312 Free Books & Documents. Review.

10

The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.

Baskin SM, Morris SA, Vara A, Hecht JT, Farach LS. Baskin SM, et al. Am J Med Genet A. 2020 Nov;182(11):2755-2760. doi: 10.1002/ajmg.a.61844. Epub 2020 Sep 15. Am J Med Genet A. 2020. PMID: 32935439

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