Detalles de la búsqueda
1.
USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
Mol Vis
; 29: 31-38, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37287646
2.
Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.
Graefes Arch Clin Exp Ophthalmol
; 261(2): 353-365, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-35947183
3.
Contribution of APOA5, APOC3, CETP, ABCA1 and SIK3 genetic variants to hypertriglyceridemia development in Mexican HIV-patients receiving antiretroviral therapy.
Pharmacogenet Genomics
; 32(3): 101-110, 2022 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34693928
4.
A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
Am J Med Genet A
; 188(7): 1972-1978, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35274444
5.
AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up.
Retina
; 42(5): 981-991, 2022 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35125479
6.
Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.
Rev Invest Clin
; 74(4): 219-226, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36087940
7.
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
Hum Mol Genet
; 28(15): 2531-2548, 2019 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30986821
8.
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.
Mol Vis
; 26: 345-354, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32368002
9.
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Am J Med Genet A
; 182(5): 1223-1229, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32022998
10.
Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis.
Rev Invest Clin
; 2020 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33262542
11.
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Hum Mutat
; 40(6): 675-693, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30830990
12.
WHOLE SEQUENCING OF THE MITOCHONDRIAL GENOME OF BREAST CANCER TISSUE IN MEXICAN-MESTIZO POSTMENOPAUSAL WOMEN WITH DIFFERENT BODY MASS INDEX.
Rev Invest Clin
; 71(4): 237-245, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31448780
13.
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
Am J Hum Genet
; 96(4): 631-9, 2015 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-25772937
14.
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
J Hum Genet
; 63(11): 1169-1180, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30181649
15.
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.
Mol Vis
; 24: 105-114, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29422768
16.
Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.
Am J Med Genet A
; 176(12): 2637-2645, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30450742
17.
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Am J Med Genet A
; 176(12): 2710-2719, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30450772
18.
ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION.
Retina
; 38(1): 187-191, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28106707
19.
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.
Ophthalmic Plast Reconstr Surg
; 34(2): e61-e63, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29329175
20.
The 95ΔG mutation in the 5'untranslated region of the norA gene increases efflux activity in Staphylococcus epidermidis isolates.
Microb Pathog
; 103: 139-148, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-28017900