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Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 10, p. 1, doi. 10.1002/mgg3.70019
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- Article
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1044
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- Article
Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene.
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- Ophthalmic Genetics, 2024, v. 45, n. 5, p. 532, doi. 10.1080/13816810.2024.2365737
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Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant.
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- Ophthalmic Genetics, 2022, v. 43, n. 5, p. 589, doi. 10.1080/13816810.2022.2068047
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- Article
Mutational Screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in Congenital Ocular Malformations. Possible Contribution of the FOXE3 p.VAL201MET Variant to the Risk of Severe Eye Malformations.
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- Ophthalmic Genetics, 2014, v. 35, n. 3, p. 190, doi. 10.3109/13816810.2014.903983
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Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion.
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- Ophthalmic Genetics, 2013, v. 34, n. 4, p. 243, doi. 10.3109/13816810.2012.755631
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- Article
OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.
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- Ophthalmic Genetics, 2011, v. 32, n. 1, p. 24, doi. 10.3109/13816810.2010.524906
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- Article
Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
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- Nature Genetics, 2015, v. 47, n. 6, p. 689, doi. 10.1038/ng0615-689c
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- Article
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
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- Nature Genetics, 2015, v. 47, n. 4, p. 387, doi. 10.1038/ng.3226
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Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
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- Human Mutation, 2019, v. 40, n. 6, p. 675, doi. 10.1002/humu.23737
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- Article
Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease.
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- Cardiogenetics, 2022, v. 12, n. 3, p. 253, doi. 10.3390/cardiogenetics12030024
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- Article
The Relevance of Cataract as a Risk Factor for Age-Related Macular Degeneration: A Machine Learning Approach.
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- Applied Sciences (2076-3417), 2019, v. 9, n. 24, p. 5550, doi. 10.3390/app9245550
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- Article
Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort.
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- Journal of Ophthalmology, 2024, v. 2024, p. 1, doi. 10.1155/2024/4003914
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- Article
Molecular and Phenotypic Characterization of Staphylococcus epidermidis Isolates from Healthy Conjunctiva and a Comparative Analysis with Isolates from Ocular Infection.
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- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135964
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- Article
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.
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- Clinical & Experimental Ophthalmology, 2010, v. 38, n. 4, p. 367, doi. 10.1111/j.1442-9071.2010.02245.x
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Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.
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- Clinical & Experimental Ophthalmology, 2010, v. 38, n. 3, p. 277, doi. 10.1111/j.1442-9071.2010.02241.x
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- Article
Novel CYP4V2 Gene Mutation in a Mexican Patient with Bietti's Crystalline Corneoretinal Dystrophy.
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- Current Eye Research, 2008, v. 33, n. 4, p. 313, doi. 10.1080/02713680801983217
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- Article
protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 15, p. 2531, doi. 10.1093/hmg/ddz075
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- Article
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?
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1972, doi. 10.1002/ajmg.a.62723
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- Article
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1223, doi. 10.1002/ajmg.a.61506
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Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2710, doi. 10.1002/ajmg.a.40644
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Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2637, doi. 10.1002/ajmg.a.40524
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- Article
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1934, doi. 10.1002/ajmg.a.37683
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Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1470, doi. 10.1002/ajmg.a.35916
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USH2A mutational spectrum causing syndromic and nonsyndromic retinal dystrophies in a large cohort of Mexican patients.
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- Molecular Vision, 2023, v. 29, p. 31
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- Article
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.
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- Molecular Vision, 2020, v. 26, p. 345
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Retinal phenotypic characterization of patients with ABCA4 retinopathy due to the homozygous p.Ala1773Val mutation.
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- Molecular Vision, 2018, v. 24, p. 105
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Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.
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- American Journal of Case Reports, 2019, v. 20, p. 1566, doi. 10.12659/AJCR.918684
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- Article
EFFECTIVENESS OF WHOLE-EXOME SEQUENCING FOR THE IDENTIFICATION OF CAUSAL MUTATIONS IN PATIENTS WITH SUSPECTED INHERITED OCULAR DISEASES.
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- Clinical & Translational Investigation / Revista de Investigación Clínica, 2022, v. 74, n. 4, p. 219, doi. 10.24875/RIC.22000107
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- Article
NEXT-GENERATION SEQUENCING IDENTIFIES A HOMOZYGOUS NONSENSE P.TYR370 MUTATION OF THE TMC6 GENE IN A MEXICAN PEDIGREE WITH EPIDERMODYSPLASIA VERRUCIFORMIS.
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- Clinical & Translational Investigation / Revista de Investigación Clínica, 2021, v. 73, n. 3, p. 129, doi. 10.24875/RIC.20000415
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WHOLE SEQUENCING OF THE MITOCHONDRIAL GENOME OF BREAST CANCER TISSUE IN MEXICAN-MESTIZO POSTMENOPAUSAL WOMEN WITH DIFFERENT BODY MASS INDEX.
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- Clinical & Translational Investigation / Revista de Investigación Clínica, 2019, v. 71, n. 4, p. 237, doi. 10.24875/RIC.19002909
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Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
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- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170280
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Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1716, doi. 10.1002/ajmg.a.34030
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Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.
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- Reproductive Sciences, 2024, v. 31, n. 7, p. 1861, doi. 10.1007/s43032-024-01492-0
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Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 2, p. 353, doi. 10.1007/s00417-022-05786-4
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- Article
Exogenous CFH Modulates Levels of Pro-Inflammatory Mediators to Prevent Oxidative Damage of Retinal Pigment Epithelial Cells with the At-Risk CFH Y402H Variant.
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- Antioxidants, 2023, v. 12, n. 8, p. 1540, doi. 10.3390/antiox12081540
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Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.
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- BioMed Research International, 2024, p. 1, doi. 10.1155/2024/2052766
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Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire.
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- Boletín Médico del Hospital Infantil de México, 2023, v. 80, n. 5, p. 269, doi. 10.24875/BMHIM.22000147
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- Article