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Items: 1 to 20 of 22

1.

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
2.

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA, Letarte M.

J Med Genet. 2006 Feb;43(2):97-110. Epub 2005 May 6. Review.

3.

[Rendu-Osler disease: clinical and molecular update].

Bailly S, Dupuis-Girod S, Plauchu H.

Med Sci (Paris). 2010 Oct;26(10):855-60. doi: 10.1051/medsci/20102610855. Review. French.

4.

Hereditary hemorrhagic telangiectasia. Genetics, pathogenesis, clinical manifestation and management.

Stuhrmann M, El-Harith el-HA.

Saudi Med J. 2007 Jan;28(1):11-21. Review.

PMID:
17206283
5.

Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.

Sadick H, Sadick M, Götte K, Naim R, Riedel F, Bran G, Hörmann K.

Wien Klin Wochenschr. 2006 Mar;118(3-4):72-80. Review.

PMID:
16703249
6.

Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.

McDonald J, Bayrak-Toydemir P, Pyeritz RE.

Genet Med. 2011 Jul;13(7):607-16. doi: 10.1097/GIM.0b013e3182136d32. Review.

PMID:
21546842
7.

Hereditary Haemorrhagic Telangiectasia (HHT): genetic and molecular aspects.

Lenato GM, Guanti G.

Curr Pharm Des. 2006;12(10):1173-93. Review.

PMID:
16611099
8.

Rendu-Osler-Weber disease: update of medical and dental considerations.

te Veldhuis EC, te Veldhuis AH, van Dijk FS, Kwee ML, van Hagen JM, Baart JA, van der Waal I.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Feb;105(2):e38-41. doi: 10.1016/j.tripleo.2007.08.017. Review.

PMID:
18230376
9.

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.

Govani FS, Shovlin CL.

Eur J Hum Genet. 2009 Jul;17(7):860-71. doi: 10.1038/ejhg.2009.35. Epub 2009 Apr 1. Review.

10.

[Hereditary hemorrhagic telangiectasia].

Duffau P, Lazarro E, Viallard JF.

Rev Med Interne. 2014 Jan;35(1):21-7. doi: 10.1016/j.revmed.2013.02.022. Epub 2013 Mar 19. Review. French.

PMID:
23517771
11.

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).

Cottin V, Dupuis-Girod S, Lesca G, Cordier JF.

Respiration. 2007;74(4):361-78. Review.

PMID:
17641482
12.

Endoglin-mediated vascular remodeling: mechanisms underlying hereditary hemorrhagic telangiectasia.

Lebrin F, Mummery CL.

Trends Cardiovasc Med. 2008 Jan;18(1):25-32. doi: 10.1016/j.tcm.2007.11.003. Review.

PMID:
18206806
13.

HHT: a rare disease with a broad spectrum of clinical aspects.

Sabbà C, Gallitelli M, Pasculli G, Suppressa P, Resta F, Tafaro GE.

Curr Pharm Des. 2006;12(10):1217-20. Review.

PMID:
16611103
14.

Vascular morphogenesis: tales of two syndromes.

Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R97-112. Review.

15.

Angiogenesis regulation by TGFβ signalling: clues from an inherited vascular disease.

Mahmoud M, Upton PD, Arthur HM.

Biochem Soc Trans. 2011 Dec;39(6):1659-66. doi: 10.1042/BST20110664. Review.

PMID:
22103504
16.

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K.

Hum Mutat. 2005 Mar;25(3):225-31. Review.

PMID:
15706593
18.

[Disease-causing mutations versus neutral polymorphism: use of bioinformatics and DNA diagnosis].

Machácková E.

Cas Lek Cesk. 2003 Mar;142(3):150-3. Review. Czech.

PMID:
12756842
19.

[Hereditary hemorragic telangiectasia: the state of art].

Colotto M, Castellano V, Anatra GM, Borgia MC.

Clin Ter. 2007 May-Jun;158(3):253-60. Review. Italian.

PMID:
17612287
20.

Molecular approaches in the diagnosis of primary immunodeficiency diseases.

Costabile M, Quach A, Ferrante A.

Hum Mutat. 2006 Dec;27(12):1163-73. Review.

PMID:
16960849
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