Detalhe da pesquisa
1.
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Genet Med
; 21(8): 1832-1841, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675029
2.
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Am J Hum Genet
; 88(3): 382-90, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21397065
3.
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Am J Hum Genet
; 88(5): 621-7, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549336
4.
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
Am J Hum Genet
; 87(3): 376-81, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20705278
5.
Phenotypic spectrum associated with CASK loss-of-function mutations.
J Med Genet
; 48(11): 741-51, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21954287
6.
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.
Eur J Med Genet
; 64(3): 104161, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33571691
7.
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Sci Rep
; 11(1): 764, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436942
8.
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
Orphanet J Rare Dis
; 9: 53, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24735900
9.
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Eur J Med Genet
; 56(3): 159-62, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23232253
10.
Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon.
J Neurol Sci
; 367: 81-2, 2016 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27423567