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Items: 1 to 20 of 90

1.

Father's genetic quest pays off.

Maher B.

Nature. 2013 Jun 27;498(7455):418-9. doi: 10.1038/498418a. No abstract available.

PMID:
23803821
2.

Family first.

[No authors listed]

Nature. 2013 Jun 27;498(7455):408. No abstract available.

PMID:
23814810
3.

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.

Am J Med Genet A. 2014 Aug;164A(8):2141-3. doi: 10.1002/ajmg.a.36593. Epub 2014 May 5. No abstract available.

PMID:
24798638
4.

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.

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

PMID:
24817670
5.

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

Braverman AC.

J Am Coll Cardiol. 2015 Apr 7;65(13):1337-9. doi: 10.1016/j.jacc.2014.12.056. No abstract available.

6.

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.

Am J Med Genet A. 2013 Aug;161A(8):2040-6. doi: 10.1002/ajmg.a.36056. Epub 2013 Jul 3.

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.

J Appl Genet. 2009;50(4):405-10. Review.

PMID:
19875893
8.

Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.

Chen J, Li B, Yang Y, Hu J, Zhao T, Gong Y, Tan Z.

Clin Invest Med. 2010 Feb 1;33(1):E14-21.

PMID:
20144264
9.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.

N Engl J Med. 2006 Aug 24;355(8):788-98.

10.

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.

Breckpot J, Budts W, De Zegher F, Vermeesch JR, Devriendt K.

Eur J Med Genet. 2010 Nov-Dec;53(6):408-10. doi: 10.1016/j.ejmg.2010.08.004. Epub 2010 Sep 20.

PMID:
20813212
11.

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B.

Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

12.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-BĂ©roud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

13.

Diagnosis: A clear answer.

Sohn E.

Nature. 2016 Sep 8;537(7619):S64-5. doi: 10.1038/537S64a. No abstract available.

PMID:
27602744
14.

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

Muramatsu Y, Kosho T, Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y.

Am J Med Genet A. 2010 Feb;152A(2):417-21. doi: 10.1002/ajmg.a.33263.

PMID:
20101701
15.

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.

Drera B, Tadini G, Barlati S, Colombi M.

Clin Genet. 2008 Mar;73(3):290-3. Epub 2007 Dec 6. No abstract available.

PMID:
18070134
16.

Imaging findings in a child with Loeys-Dietz syndrome.

Dhouib A, Beghetti M, Didier D.

Circulation. 2012 Jul 24;126(4):507-8. doi: 10.1161/CIRCULATIONAHA.112.103192. No abstract available.

17.

Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.

Kalra VB, Gilbert JW, Malhotra A.

Pediatr Radiol. 2011 Dec;41(12):1495-504; quiz 1616. doi: 10.1007/s00247-011-2195-z. Epub 2011 Jul 23. Review.

PMID:
21785848
18.

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).

Ehrlich M, Jackson K, Weemaes C.

Orphanet J Rare Dis. 2006 Mar 1;1:2. Review.

19.

Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation.

Gutman G, Baris HN, Hirsch R, Mandel D, Yaron Y, Lessing JB, Kuperminc MJ.

Fetal Diagn Ther. 2009;26(1):35-7. doi: 10.1159/000236357. Epub 2009 Oct 10. Review.

PMID:
19816028
20.

Multiple facial milia in patients with Loeys-Dietz syndrome.

Lloyd BM, Braverman AC, Anadkat MJ.

Arch Dermatol. 2011 Feb;147(2):223-6. doi: 10.1001/archdermatol.2010.284. Epub 2010 Oct 18.

PMID:
20956634

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