Detalhe da pesquisa
1.
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Hum Genomics
; 17(1): 45, 2023 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269011
2.
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.
J Med Genet
; 59(5): 428-437, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782094
3.
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Int J Mol Sci
; 22(23)2021 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884523
4.
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Hum Genet
; 139(10): 1209-1231, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32274568
5.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464339
6.
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Genet Med
; 20(8): 882-889, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29446767
7.
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.
Geroscience
; 45(1): 543-553, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36184726
8.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Am J Ophthalmol
; 254: 87-103, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327959
9.
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
Sci Rep
; 12(1): 10369, 2022 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35725860
10.
Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.
Stem Cell Res
; 40: 101566, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31509793
11.
Molecular evidence of field cancerization initiated by diabetes in colon cancer patients.
Mol Oncol
; 13(4): 857-872, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628165
12.
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.
J Exp Med
; 216(2): 407-418, 2019 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591517
13.
New type of mutations in three spanish families with choroideremia.
Invest Ophthalmol Vis Sci
; 49(4): 1315-21, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385043
14.
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Front Genet
; 9: 479, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30386378
15.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sci Rep
; 8(1): 5285, 2018 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29588463
16.
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
Mol Vis
; 13: 2160-2, 2007 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-18079693
17.
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
PLoS One
; 12(2): e0172363, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28231309
18.
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
PLoS One
; 11(4): e0151943, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27070432
19.
Gene symbol: CHM. Disease: Choroideraemia.
Hum Genet
; 124(3): 302, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18846629
20.
Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy.
Hum Genet
; 122(5): 555, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18383606