Detalhe da pesquisa
1.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
2.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825406
3.
Long-term effect of gene therapy on Leber's congenital amaurosis.
N Engl J Med
; 372(20): 1887-97, 2015 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25938638
4.
Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy.
J Vis
; 15(15): 20, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26605849
5.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nat Genet
; 38(5): 521-4, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16582908
6.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38297832
7.
Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: patient outcomes, rate of appropriate and inappropriate interventions, and complications.
Am Heart J
; 166(3): 496-502, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24016499
8.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
; 2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37808847
9.
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.
Hum Genet
; 129(2): 199-208, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21085994
10.
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
Hum Mutat
; 29(2): 232-9, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17979197
11.
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Invest Ophthalmol Vis Sci
; 47(3): 1167-76, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16505055
12.
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
Eur J Hum Genet
; 13(4): 503-5, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15523492
13.
Follow-up of adult males with chromosome 18p deletion.
Eur J Med Genet
; 48(2): 189-93, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16053911
14.
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Orphanet J Rare Dis
; 10: 52, 2015 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25934493
15.
Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.
Heart Rhythm
; 1(5): 610-5, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15851228
16.
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.
Invest Ophthalmol Vis Sci
; 55(10): 6817-28, 2014 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25257057
17.
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
Nat Genet
; 45(5): 518-21, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23502781
18.
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
Eur J Hum Genet
; 19(1): 102-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20736978
19.
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
Eur J Med Genet
; 52(2-3): 145-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19233320
20.
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.
Eur J Med Genet
; 52(2-3): 120-2, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19284984