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Items: 1 to 20 of 140

1.

Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.

Brusgaard K, Kjeldsen AD, Poulsen L, Moss H, Vase P, Rasmussen K, Kruse TA, Hørder M.

Clin Genet. 2004 Dec;66(6):556-61.

PMID:
15521985
2.

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia.

Kjeldsen AD, Møller TR, Brusgaard K, Vase P, Andersen PE.

J Intern Med. 2005 Oct;258(4):349-55.

3.

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.

Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon W, Marchuk D, Guttmacher A.

J Med Genet. 2003 Aug;40(8):585-90.

4.

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK.

Hum Genet. 2005 Jan;116(1-2):8-16. Epub 2004 Oct 23.

PMID:
15517393
5.

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan.

Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, Nozaki J, Inoue S, Koizumi A.

Hum Mutat. 2002 Feb;19(2):140-8.

PMID:
11793473
6.

Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

Gallione CJ, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJ, Marchuk DA.

Hum Genet. 2000 Jul;107(1):40-4.

PMID:
10982033
7.

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network..

Hum Mutat. 2004 Apr;23(4):289-99.

PMID:
15024723
8.

ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia.

Argyriou L, Pfitzmann R, Wehner LE, Twelkemeyer S, Neuhaus P, Nayernia K, Engel W.

Liver Transpl. 2005 Sep;11(9):1132-5.

9.

Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation.

Lin WD, Wu JY, Hsu HB, Tsai FJ, Lee CC, Tsai CH.

J Formos Med Assoc. 2001 Dec;100(12):817-9.

PMID:
11802521
10.

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

Fernandez-L A, Sanz-Rodriguez F, Zarrabeitia R, Perez-Molino A, Morales C, Restrepo CM, Ramirez JR, Coto E, Lenato GM, Bernabeu C, Botella LM.

Hum Mutat. 2006 Mar;27(3):295.

PMID:
16470589
11.

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

Fontalba A, Fernandez-L A, García-Alegria E, Albiñana V, Garrido-Martin EM, Blanco FJ, Zarrabeitia R, Perez-Molino A, Bernabeu-Herrero ME, Ojeda ML, Fernandez-Luna JL, Bernabeu C, Botella LM.

BMC Med Genet. 2008 Aug 1;9:75. doi: 10.1186/1471-2350-9-75.

12.

Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes.

Sanz-Rodriguez F, Fernandez-L A, Zarrabeitia R, Perez-Molino A, Ramírez JR, Coto E, Bernabeu C, Botella LM.

Clin Chem. 2004 Nov;50(11):2003-11. Epub 2004 Sep 16.

13.

Blood outgrowth endothelial cells from Hereditary Haemorrhagic Telangiectasia patients reveal abnormalities compatible with vascular lesions.

Fernandez-L A, Sanz-Rodriguez F, Zarrabeitia R, Pérez-Molino A, Hebbel RP, Nguyen J, Bernabéu C, Botella LM.

Cardiovasc Res. 2005 Nov 1;68(2):235-48. Epub 2005 Jul 5.

PMID:
15993872
14.

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
15.

Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.

Albiñana V, Zafra MP, Colau J, Zarrabeitia R, Recio-Poveda L, Olavarrieta L, Pérez-Pérez J, Botella LM.

BMC Med Genet. 2017 Feb 23;18(1):20. doi: 10.1186/s12881-017-0380-0.

17.

Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland.

Sankelo M, Halme M, Laitinen T, Mattila PS.

Acta Otolaryngol. 2008 Nov;128(11):1238-41. doi: 10.1080/00016480801908035.

PMID:
18607909
18.
19.

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC.

J Med Genet. 2003 Dec;40(12):865-71. Erratum in: J Med Genet. 2004 Jul;41(7):576.

20.

Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia.

Shovlin CL.

Thromb Haemost. 1997 Jul;78(1):145-50. Review.

PMID:
9198145

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