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Items: 9

1.

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.

Klaus DJ, Gallione CJ, Anthony K, Yeh EY, Yu J, Lux A, Johnson DW, Marchuk DA.

Hum Mutat. 1998;12(2):137.

PMID:
10694922
2.

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, Delù G, Pagella F, Zambelli A, Malvezzi L, Buscarini E, Danesino C.

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

3.

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
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, Sabbà 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, Sabbà C, Guanti G.

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

PMID:
16429404
6.

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia.

Olivieri C, Lanzarini L, Pagella F, Semino L, Corno S, Valacca C, Plauchu H, Lesca G, Barthelet M, Buscarini E, Danesino C.

Genet Med. 2006 Mar;8(3):183-90.

PMID:
16540754
7.

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
8.

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.

Ricard N, Bidart M, Mallet C, Lesca G, Giraud S, Prudent R, Feige JJ, Bailly S.

Blood. 2010 Sep 2;116(9):1604-12. doi: 10.1182/blood-2010-03-276881. Epub 2010 May 25.

9.

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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