Detalhe da pesquisa
1.
Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia.
Childs Nerv Syst
; 40(7): 2101-2108, 2024 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-38517485
2.
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited.
Genet Med
; 25(8): 100865, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37125633
3.
Endothelial TLR4 and the microbiome drive cerebral cavernous malformations.
Nature
; 545(7654): 305-310, 2017 05 18.
Artigo
Inglês
| MEDLINE | ID: mdl-28489816
4.
Association between pregnancy and long-term cardiac outcomes in individuals with congenital heart disease.
Am J Obstet Gynecol
; 226(1): 124.e1-124.e8, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34331895
5.
Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling.
Nature
; 532(7597): 122-6, 2016 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27027284
6.
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Ann Intern Med
; 173(12): 989-1001, 2020 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32894695
7.
Plasma Biomarkers of Inflammation and Angiogenesis Predict Cerebral Cavernous Malformation Symptomatic Hemorrhage or Lesional Growth.
Circ Res
; 122(12): 1716-1721, 2018 06 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29720384
8.
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.
J Inherit Metab Dis
; 42(5): 998-1007, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31077402
9.
Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study.
J Am Acad Dermatol
; 81(4): 950-955, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-30819528
10.
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
J Med Genet
; 55(12): 824-830, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30244195
11.
Corrigendum: Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling.
Nature
; 536(7617): 488, 2016 08 25.
Artigo
Inglês
| MEDLINE | ID: mdl-27281211
12.
Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation.
Circulation
; 131(3): 289-99, 2015 Jan 20.
Artigo
Inglês
| MEDLINE | ID: mdl-25486933
13.
Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial.
JAMA
; 316(9): 943-51, 2016 09 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27599329
14.
Helix-fixed leadless pacemaker implantation through a valve-in-valve tricuspid prosthesis via the femoral approach.
J Interv Card Electrophysiol
; 2024 Apr 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38684636
15.
De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.
Pediatr Neurol
; 155: 120-125, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38631080
16.
Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT.
J Clin Med
; 12(7)2023 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37048789
17.
Reply to Eker et al. Comment on "Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704".
J Clin Med
; 12(23)2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38068512
18.
Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-ß Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.
Circ Heart Fail
; 16(12): e010351, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38113297
19.
Choroidal melanoma with synchronous Fuchs' adenoma and novel ATRX mutation.
Int J Retina Vitreous
; 8(1): 24, 2022 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35365243
20.
Mechanisms of vascular stability and the relationship to human disease.
Curr Opin Hematol
; 17(3): 237-44, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20308891