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Items: 7

1.

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA.

Am J Hum Genet. 1997 Jul;61(1):60-7.

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.

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
4.

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, SabbĂ  C.

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

5.

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, SabbĂ  C, Guanti G.

Hum Mutat. 2006 Feb;27(2):213-4.

PMID:
16429404
6.

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
7.

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

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