Detalhe da pesquisa
1.
Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.
Am Heart J
; 169(5): 605-12, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25965707
2.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Nat Genet
; 37(3): 275-81, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15731757
3.
The revised Ghent nosology for the Marfan syndrome.
J Med Genet
; 47(7): 476-85, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20591885
4.
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Hum Mutat
; 30(3): 334-41, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006240
5.
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
N Engl J Med
; 355(8): 788-98, 2006 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-16928994
6.
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
Orphanet J Rare Dis
; 8: 36, 2013 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23442826
7.
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Orphanet J Rare Dis
; 6: 88, 2011 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22206639
8.
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Eur J Hum Genet
; 18(8): 895-901, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20389311
9.
First report of the genetic background of Marfan syndrome in Polish patients.
Pol Arch Med Wewn
; 123(11): 646-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24296667
10.
Primary impairment of left ventricular function in Marfan syndrome.
Int J Cardiol
; 112(3): 353-8, 2006 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-16316698