Detalhe da pesquisa
1.
USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
Mol Vis
; 29: 31-38, 2023.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947183
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32368002
4.
Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.
Am J Med Genet A
; 182(11): 2773-2777, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32902915
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022998
6.
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.
Mol Vis
; 24: 105-114, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422768
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450772
8.
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
Clin Exp Ophthalmol
; 45(9): 875-883, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488383
9.
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.
Am J Med Genet A
; 170(7): 1934-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27139419
10.
Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.
Rev Invest Clin
; 68(5): 269-274, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27941963
11.
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.
Am J Med Genet A
; 167A(2): 282-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25427842
12.
Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.
Biomed Res Int
; 2024: 2052766, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38249632
13.
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.
Exp Eye Res
; 109: 77-82, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23419329
14.
Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.
Am J Med Genet A
; 161A(6): 1470-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636874
15.
Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire.
Bol Med Hosp Infant Mex
; 80(5): 269-278, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963299
16.
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females.
Ophthalmic Genet
; 43(2): 224-229, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34844512
17.
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.
Am J Med Genet A
; 155A(7): 1716-20, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21626675
18.
Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.
Clin Exp Ophthalmol
; 38(3): 277-83, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20447124
19.
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.
Eur J Med Genet
; 63(5): 103877, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32028042
20.
Newborn transient patterned hyperpigmentation and anophthalmia.
Bol Med Hosp Infant Mex
; 77(3): 146-148, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32496470