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Items: 1 to 20 of 299

1.

The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.

Pawlikowska L, Nelson J, Guo DE, McCulloch CE, Lawton MT, Young WL, Kim H, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group.

Am J Med Genet A. 2015 Jun;167(6):1262-7. doi: 10.1002/ajmg.a.36936. Epub 2015 Apr 2.

2.

Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.

Pawlikowska L, Nelson J, Guo DE, McCulloch CE, Lawton MT, Kim H, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group.

Mol Genet Genomic Med. 2018 May;6(3):350-356. doi: 10.1002/mgg3.377. Epub 2018 Mar 6.

3.

Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.

Boshuisen K, Brundel M, de Kovel CGF, Letteboer TG, Rinkel GJE, Westermann CJJ, Kim H, Pawlikowska L, Koeleman BPC, Klijn CJM.

Transl Stroke Res. 2013 Jun;4(3):375-378. doi: 10.1007/s12975-012-0231-4. Epub 2012 Nov 29.

4.

Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.

Lee ST, Kim JA, Jang SY, Kim DK, Do YS, Suh GY, Kim JW, Ki CS.

J Korean Med Sci. 2009 Feb;24(1):69-76. doi: 10.3346/jkms.2009.24.1.69. Epub 2009 Feb 28.

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Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system.

Simon M, Franke D, Ludwig M, Aliashkevich AF, Köster G, Oldenburg J, Boström A, Ziegler A, Schramm J.

J Neurosurg. 2006 Jun;104(6):945-9.

PMID:
16776339
8.

Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.

Albiñana V, Zafra MP, Colau J, Zarrabeitia R, Recio-Poveda L, Olavarrieta L, Pérez-Pérez J, Botella LM.

BMC Med Genet. 2017 Feb 23;18(1):20. doi: 10.1186/s12881-017-0380-0.

9.

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.

Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr MJ, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith EA, Stuhrmann M.

Clin Genet. 2008 Aug;74(2):171-7. doi: 10.1111/j.1399-0004.2008.01029.x. Epub 2008 May 21.

PMID:
18498373
10.

Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.

Sabbà C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, Dicuonzo F, Guant G.

J Thromb Haemost. 2007 Jun;5(6):1149-57.

11.

Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.

Wehner LE, Folz BJ, Argyriou L, Twelkemeyer S, Teske U, Geisthoff UW, Werner JA, Engel W, Nayernia K.

Clin Genet. 2006 Mar;69(3):239-45.

PMID:
16542389
13.

Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia.

Kim MJ, Kim ST, Lee HD, Lee KY, Seo J, Lee JB, Lee YJ, Oh SP.

BMC Med Genet. 2011 Oct 3;12:130. doi: 10.1186/1471-2350-12-130.

14.

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network.

Hum Mutat. 2006 Jun;27(6):598.

PMID:
16705692
15.

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.

Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Chibuk JM, Bayrak-Toydemir P.

J Med Genet. 2011 May;48(5):358-60. doi: 10.1136/jmg.2010.088286. Epub 2011 Mar 4.

PMID:
21378382
16.

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA.

Clin Genet. 2016 Feb;89(2):182-6. doi: 10.1111/cge.12612. Epub 2015 Jun 5.

PMID:
25970827
17.

Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.

Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, Terbrugge KG, White RI Jr.

Am J Med Genet A. 2012 Nov;158A(11):2829-34. doi: 10.1002/ajmg.a.35622. Epub 2012 Sep 18.

18.

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia.

Tørring PM, Larsen MJ, Kjeldsen AD, Ousager LB, Tan Q, Brusgaard K.

Microvasc Res. 2015 May;99:118-26. doi: 10.1016/j.mvr.2015.04.002. Epub 2015 Apr 16.

PMID:
25892364
19.

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.

Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R.

Am J Med Genet A. 2006 Mar 1;140(5):463-70.

PMID:
16470787
20.

Does the genotype of HHT patients with mutations of the ENG and ACVRL1 gene correlate to different expression levels of the angiogenic factor VEGF?

Sadick H, Hage J, Goessler U, Bran G, Riedel F, Bugert P, Hoermann K.

Int J Mol Med. 2008 Nov;22(5):575-80.

PMID:
18949376

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