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Items: 1 to 20 of 198

1.

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
2.

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.

4.

High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

Schulte C, Geisthoff U, Lux A, Kupka S, Zenner HP, Blin N, Pfister M.

Hum Mutat. 2005 Jun;25(6):595.

PMID:
15880681
5.

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.

6.

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.

7.

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network.

Hum Mutat. 2004 Apr;23(4):289-99.

PMID:
15024723
8.

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
9.
10.

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M.

J Med Genet. 2006 Sep;43(9):722-8. Epub 2006 May 11.

11.

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
12.

SMAD4 mutations found in unselected HHT patients.

Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, Marchuk DA.

J Med Genet. 2006 Oct;43(10):793-7. Epub 2006 Apr 13.

13.

[Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].

Liu C, Lv YX, Yang XD, Huang YH, Luo Y, Yi Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):176-9. doi: 10.3760/cma.j.issn.1003-9406.2013.04.012. Chinese.

PMID:
23568730
14.

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
15.

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

Fontalba A, Fernandez-L A, García-Alegria E, Albiñana V, Garrido-Martin EM, Blanco FJ, Zarrabeitia R, Perez-Molino A, Bernabeu-Herrero ME, Ojeda ML, Fernandez-Luna JL, Bernabeu C, Botella LM.

BMC Med Genet. 2008 Aug 1;9:75. doi: 10.1186/1471-2350-9-75.

16.

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, Corno S, Scappaticci S, Manfredi G, Buscarini E, Danesino C.

J Hum Genet. 2007;52(10):820-9. Epub 2007 Sep 5.

PMID:
17786384
17.
18.

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

Fernandez-L A, Sanz-Rodriguez F, Zarrabeitia R, Perez-Molino A, Morales C, Restrepo CM, Ramirez JR, Coto E, Lenato GM, Bernabeu C, Botella LM.

Hum Mutat. 2006 Mar;27(3):295.

PMID:
16470589
19.

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
20.

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P.

Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.

PMID:
21158752

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