Detalhe da pesquisa
1.
Recurrence of Hereditary Hemorrhagic Telangiectasia After Liver Transplantation: Clinical Implications and Physiopathological Insights.
Hepatology
; 69(5): 2232-2240, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30549294
2.
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Hum Mutat
; 36(11): 1070-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26172944
3.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103230
4.
Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output.
JAMA
; 307(9): 948-55, 2012 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22396517
5.
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.
Lancet
; 376(9751): 1476-84, 2010 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20825986
6.
Cardiovascular manifestations in men and women carrying a FBN1 mutation.
Eur Heart J
; 31(18): 2223-9, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20709720
7.
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Circulation
; 120(25): 2541-9, 2009 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19996017
8.
Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic liver transplantation: a single-center study.
Liver Transpl
; 16(3): 340-7, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20209594
9.
High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia.
Gastrointest Endosc
; 71(4): 760-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20170910
10.
Bone morphogenetic protein-9 is a circulating vascular quiescence factor.
Circ Res
; 102(8): 914-22, 2008 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18309101
11.
[Rendu-Osler disease: clinical and molecular update]. / Maladie de Rendu-Osler : dysfonctionnement de la signalisation TGF-bêta dans les cellules endothéliales.
Med Sci (Paris)
; 26(10): 855-60, 2010 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-20929677
12.
Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity.
J Clin Med
; 9(3)2020 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32155956
13.
Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.
Hepatology
; 48(5): 1570-6, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18972447
14.
Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia.
Eur J Pediatr
; 168(2): 135-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19020899
15.
[Hereditary hemorrhagic telangiectasia]. / Maladie de Rendu-Osler.
Rev Prat
; 59(7): 899-903, 2009 Sep 20.
Artigo
em Francês
| MEDLINE | ID: mdl-19839452
16.
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Hum Mutat
; 29(11): E284-95, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18781618
17.
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
Eur J Hum Genet
; 16(6): 742-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285823
18.
Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association.
Clin Infect Dis
; 44(6): 841-5, 2007 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17304458
19.
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
Eur J Hum Genet
; 15(7): 767-73, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17392703
20.
Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients.
Medicine (Baltimore)
; 86(1): 1-17, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17220751