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Items: 4

1.

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.

2.

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
3.

Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.

Smoot LB, Obler D, McElhinney DB, Boardman K, Wu BL, Lip V, Mullen MP.

Arch Dis Child. 2009 Jul;94(7):506-11. doi: 10.1136/adc.2007.133082. Epub 2009 Apr 8.

PMID:
19357124
4.

Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.

Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL; UCSF BAVM Study Project.

Stroke. 2005 Oct;36(10):2278-80. Epub 2005 Sep 22.

PMID:
16179574

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