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Items: 15

1.

The role of genetics in pulmonary arterial hypertension.

Ma L, Chung WK.

J Pathol. 2017 Jan;241(2):273-280. doi: 10.1002/path.4833. Epub 2016 Nov 29. Review.

PMID:
27770446
2.

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P.

Front Genet. 2015 Jan 26;6:1. doi: 10.3389/fgene.2015.00001. eCollection 2015. Review.

3.

Optimal management of hereditary hemorrhagic telangiectasia.

Garg N, Khunger M, Gupta A, Kumar N.

J Blood Med. 2014 Oct 15;5:191-206. doi: 10.2147/JBM.S45295. eCollection 2014. Review.

4.

Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?

Latino GA, Brown D, Glazier RH, Weyman JT, Faughnan ME.

Orphanet J Rare Dis. 2014 Jul 25;9:115. doi: 10.1186/s13023-014-0115-7.

5.

Neural deletion of Tgfbr2 impairs angiogenesis through an altered secretome.

Hellbach N, Weise SC, Vezzali R, Wahane SD, Heidrich S, Roidl D, Pruszak J, Esser JS, Vogel T.

Hum Mol Genet. 2014 Dec 1;23(23):6177-90. doi: 10.1093/hmg/ddu338. Epub 2014 Jul 2.

6.

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.

Wain KE, Ellingson MS, McDonald J, Gammon A, Roberts M, Pichurin P, Winship I, Riegert-Johnson DL, Weitzel JN, Lindor NM.

Genet Med. 2014 Aug;16(8):588-93. doi: 10.1038/gim.2014.5. Epub 2014 Feb 13.

7.

Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.

Fontalba A, Fernández-Luna JL, Zarrabeitia R, Recio-Poveda L, Albiñana V, Ojeda-Fernández ML, Bernabéu C, Alcaraz LA, Botella LM.

BMC Med Genet. 2013 Nov 25;14:121. doi: 10.1186/1471-2350-14-121.

8.

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.

Boeri L, Radi O, Canzonieri C, Buscarini E, Scatigno A, Minelli A, Ornati F, Pagella F, Danesino C, Olivieri C.

Mol Syndromol. 2013 Mar;4(3):119-24. doi: 10.1159/000347029. Epub 2013 Feb 28.

9.

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

Damjanovich K, Langa C, Blanco FJ, McDonald J, Botella LM, Bernabeu C, Wooderchak-Donahue W, Stevenson DA, Bayrak-Toydemir P.

Orphanet J Rare Dis. 2011 Dec 22;6:85. doi: 10.1186/1750-1172-6-85.

10.

Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

McDonald J, Gedge F, Burdette A, Carlisle J, Bukjiok CJ, Fox M, Bayrak-Toydemir P.

J Mol Diagn. 2009 Nov;11(6):569-75. doi: 10.2353/jmoldx.2009.080148. Epub 2009 Sep 18.

11.

Genetics and genomics of pulmonary arterial hypertension.

Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA 3rd, Soubrier F, Trembath RC, Chung WK.

J Am Coll Cardiol. 2009 Jun 30;54(1 Suppl):S32-42. doi: 10.1016/j.jacc.2009.04.015. Review.

12.

Hereditary hemorrhagic telangiectasia.

Grand'Maison A.

CMAJ. 2009 Apr 14;180(8):833-5. doi: 10.1503/cmaj.081739. Review. No abstract available.

13.

VE-cadherin is a critical endothelial regulator of TGF-beta signalling.

Rudini N, Felici A, Giampietro C, Lampugnani M, Corada M, Swirsding K, Garrè M, Liebner S, Letarte M, ten Dijke P, Dejana E.

EMBO J. 2008 Apr 9;27(7):993-1004. doi: 10.1038/emboj.2008.46. Epub 2008 Mar 13.

14.

Novel biochemical pathways of endoglin in vascular cell physiology.

Bernabeu C, Conley BA, Vary CP.

J Cell Biochem. 2007 Dec 15;102(6):1375-88. Review.

15.

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P.

J Mol Diagn. 2007 Apr;9(2):258-65.

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