Detalhe da pesquisa
1.
ITPR1: The missing gene in miosis-ataxia syndrome?
Am J Med Genet A
; : e63655, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711238
2.
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
J Med Genet
; 61(1): 84-92, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586836
3.
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.
Int J Mol Sci
; 25(5)2024 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473917
4.
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.
Am J Med Genet A
; 191(5): 1373-1377, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734406
5.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clin Genet
; 101(5-6): 494-506, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170016
6.
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.
Orphanet J Rare Dis
; 19(1): 180, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685042
7.
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
Eur J Hum Genet
; 31(5): 526-530, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36404347
8.
Dual signaling system with an extended-tetrathiafulvalene-phenanthroline dyad acting as an electrooptical cation chemosensor.
J Org Chem
; 77(5): 2441-5, 2012 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22300274
9.
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.
Eur J Hum Genet
; 29(5): 771-779, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414558
10.
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Mol Genet Genomic Med
; 9(11): e1814, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672437
11.
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Orphanet J Rare Dis
; 16(1): 504, 2021 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863227
12.
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.
Mol Genet Genomic Med
; 8(5): e1132, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154675
13.
Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
Eur J Hum Genet
; 31(5): 607, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460742
14.
A fused donor-acceptor system based on an extended tetrathiafulvalene and a ruthenium complex of dipyridoquinoxaline.
Org Lett
; 12(21): 4868-71, 2010 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20923206
15.
Efficient access to a versatile 5,6-dithio-1,10-phenanthroline building block and corresponding organometallic complexes.
Org Lett
; 11(3): 649-52, 2009 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19132936