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Items: 6

1.

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.

Olivieri C, Mira E, Del├╣ G, Pagella F, Zambelli A, Malvezzi L, Buscarini E, Danesino C.

J Med Genet. 2002 Jul;39(7):E39. No abstract available.

2.

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P, Mao R, Lewin S, McDonald J.

Genet Med. 2004 Jul-Aug;6(4):175-91. Review.

PMID:
15266205
3.

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Abdalla SA, Cymerman U, Rushlow D, Chen N, Stoeber GP, Lemire EG, Letarte M.

Hum Mutat. 2005 Mar;25(3):320-1.

PMID:
15712271
4.

Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

Kuehl HK, Caselitz M, Hasenkamp S, Wagner S, El-Harith el-HA, Manns MP, Stuhrmann M.

Hum Mutat. 2005 Mar;25(3):320.

PMID:
15712270
5.

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
6.

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

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