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Items: 1 to 20 of 102

1.

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

Goudie DR, D'Alessandro M, Merriman B, Lee H, Szeverényi I, Avery S, O'Connor BD, Nelson SF, Coats SE, Stewart A, Christie L, Pichert G, Friedel J, Hayes I, Burrows N, Whittaker S, Gerdes AM, Broesby-Olsen S, Ferguson-Smith MA, Verma C, Lunny DP, Reversade B, Lane EB.

Nat Genet. 2011 Feb 27;43(4):365-9. doi: 10.1038/ng.780.

PMID:
21358634
2.

Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus.

Ferguson-Smith MA, Goudie DR.

Int J Biochem Cell Biol. 2014 Aug;53:520-5. doi: 10.1016/j.biocel.2014.04.007. Epub 2014 Apr 18. Review.

PMID:
24747516
3.

[Multiple self-healing squamous epithelioma, or Ferguson-Smith disease: demonstration of mutations in the TGFβ-receptor].

Dereure O.

Ann Dermatol Venereol. 2011 Nov;138(11):790-1. doi: 10.1016/j.annder.2011.09.005. Epub 2011 Oct 5. French. No abstract available.

PMID:
22078045
4.

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B.

Hum Mutat. 2006 Aug;27(8):760-9.

PMID:
16791849
5.

[Multiple self-healing squamous epithelioma is an inherited self-healing skin cancer condition].

Broesby-Olsen S, Frandsen SK, Thomassen M, Brandrup F, Gerdes AM.

Ugeskr Laeger. 2012 Apr 23;174(17):1149-51. Danish.

PMID:
22533930
6.

Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.

Kang HC, Quigley DA, Kim IJ, Wakabayashi Y, Ferguson-Smith MA, D'Alessandro M, Birgitte Lane E, Akhurst RJ, Goudie DR, Balmain A.

J Invest Dermatol. 2013 Jul;133(7):1907-10. doi: 10.1038/jid.2013.45. Epub 2013 Jan 28. No abstract available.

7.
8.

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M.

Hum Mutat. 2006 Aug;27(8):770-7.

PMID:
16799921
9.

A puzzling case: SCC or not?

Simpkin S, Lamont D, Yung A.

Australas J Dermatol. 2013 Aug;54(3):e74-7. doi: 10.1111/j.1440-0960.2012.00919.x. Epub 2012 Jul 3.

PMID:
22758773
10.

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-Béroud 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.

11.

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL.

Am J Med Genet A. 2009 Jul;149A(7):1452-9. doi: 10.1002/ajmg.a.32918.

PMID:
19533785
12.

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
13.

The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity.

Bose S, Morgan LJ, Booth DR, Goudie DR, Ferguson-Smith MA, Richards FM.

Oncogene. 2006 Feb 2;25(5):806-12.

PMID:
16170343
14.

Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?

D'Alessandro M, Coats SE, Morley SM, Mackintosh L, Tessari G, Turco A, Gerdes AM, Pichert G, Whittaker S, Brandrup F, Broesby-Olsen S, Gomez-Lira M, Girolomoni G, Maize JC, Feldman RJ, Kato N, Koga Y, Ferguson-Smith MA, Goudie DR, Lane EB.

J Invest Dermatol. 2007 Oct;127(10):2336-44. Epub 2007 Jun 7.

15.

May TGFBR1 act also as low penetrance allele in Marfan syndrome?

Lucarini L, Evangelisti L, Attanasio M, Lapini I, Chiarini F, Porciani MC, Abbate R, Gensini G, Pepe G.

Int J Cardiol. 2009 Jan 9;131(2):281-4. Epub 2007 Oct 22.

PMID:
17936924
16.

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.

J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18.

PMID:
19542084
17.

Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

Horbelt D, Guo G, Robinson PN, Knaus P.

J Cell Sci. 2010 Dec 15;123(Pt 24):4340-50. doi: 10.1242/jcs.074773. Epub 2010 Nov 23.

18.

Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.

Zangwill SD, Brown MD, Bryke CR, Cava JR, Segura AD.

Congenit Heart Dis. 2006 Sep;1(5):229-32. doi: 10.1111/j.1747-0803.2006.00040.x.

PMID:
18377530
19.

Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

Wang WJ, Han P, Zheng J, Hu FY, Zhu Y, Xie JS, Guo J, Zhang Z, Dong J, Zheng GY, Cao H, Liu TS, Fu Q, Sun L, Yang BB, Tian XL.

J Mol Med (Berl). 2013 Jan;91(1):37-47. doi: 10.1007/s00109-012-0931-y. Epub 2012 Jul 8.

PMID:
22772377
20.

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

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