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Similar articles for PubMed (Select 22991266)

1.

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.

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.

3.

Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia.

Al-Saleh S, Mei-Zahav M, Faughnan ME, MacLusky IB, Carpenter S, Letarte M, Ratjen F.

Eur Respir J. 2009 Oct;34(4):875-81. doi: 10.1183/09031936.00030009. Epub 2009 Apr 22.

5.

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
6.

Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years.

Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias PL.

Neuroradiology. 2005 Oct;47(10):711-20. Epub 2005 Sep 1.

PMID:
16136265
7.

Hereditary hemorrhagic telangiectasia in Japanese patients.

Komiyama M, Ishiguro T, Yamada O, Morisaki H, Morisaki T.

J Hum Genet. 2014 Jan;59(1):37-41. doi: 10.1038/jhg.2013.113. Epub 2013 Nov 7.

PMID:
24196379
8.

Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience.

Mei-Zahav M, Letarte M, Faughnan ME, Abdalla SA, Cymerman U, MacLusky IB.

Arch Pediatr Adolesc Med. 2006 Jun;160(6):596-601.

PMID:
16754821
9.

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.

PMID:
17388964
10.

Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.

Giordano P, Nigro A, Lenato GM, Guanti G, Suppressa P, Lastella P, DE Mattia D, Sabbà C.

J Thromb Haemost. 2006 Jun;4(6):1237-45.

PMID:
16706966
11.

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
12.

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
13.

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
14.

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.

15.

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

Canzonieri C, Centenara L, Ornati F, Pagella F, Matti E, Alvisi C, Danesino C, Perego M, Olivieri C.

Genet Med. 2014 Jan;16(1):3-10. doi: 10.1038/gim.2013.62. Epub 2013 May 30.

PMID:
23722869
16.

Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M.

Pediatrics. 2002 Jan;109(1):E12.

PMID:
11773580
17.

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.

18.

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

Chen YJ, Yang QH, Liu D, Liu QQ, Eyries M, Wen L, Wu WH, Jiang X, Yuan P, Zhang R, Soubrier F, Jing ZC.

Eur J Clin Invest. 2013 Oct;43(10):1016-24. doi: 10.1111/eci.12138. Epub 2013 Aug 6.

PMID:
23919827
19.

Term neonate with intracranial hemorrhage and hereditary hemorrhagic telangiectasia: a case report and review of the literature.

Delaney HM, Rooks VJ, Wolfe SQ, Sawyer TL.

J Perinatol. 2012 Aug;32(8):642-4. doi: 10.1038/jp.2011.146. Review.

PMID:
22842803
20.
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