Detalhe da pesquisa
1.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277047
2.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363182
3.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923172
4.
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Hum Mutat
; 37(12): 1340-1353, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27528516
5.
Marfan Sartan: a randomized, double-blind, placebo-controlled trial.
Eur Heart J
; 36(32): 2160-6, 2015 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25935877
6.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
J Med Genet
; 50(4): 220-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23378603
7.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
J Med Genet
; 48(4): 226-34, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21398687
8.
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
9.
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Hum Mutat
; 31(1): E1021-42, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19802897
10.
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.
Eur J Hum Genet
; 15(4): 432-40, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17264869
11.
Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.
Virchows Arch
; 460(6): 637-49, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22549280
12.
[Recommendations for the medical management of aortic complications of Marfan's syndrome]. / Recommandations sur la prise en charge médicamenteuse des atteintes aortiques du syndrome de Marfan.
Arch Mal Coeur Vaiss
; 99(5): 540-6, 2006 May.
Artigo
em Francês
| MEDLINE | ID: mdl-16802751
13.
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Orphanet J Rare Dis
; 6: 21, 2011 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21569298
14.
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome.
Arch Cardiovasc Dis
; 103(5): 317-25, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20619242
15.
Three-dimensional analysis of the vertebral rotation associated with the lateral deviation in Marfan syndrome spinal deformity.
J Pediatr Orthop B
; 18(1): 51-6, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19436247
16.
Scoliotic curve patterns in patients with Marfan syndrome.
J Child Orthop
; 2(3): 211-6, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19308579
17.
Sagittal balance in scoliosis associated with Marfan syndrome: a stereoradiographic three-dimensional analysis.
J Child Orthop
; 2(2): 113-8, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19308590
18.
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.
Am J Med Genet A
; 132A(2): 222, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15523633