Found: 25
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Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene.
- Published in:
- Ophthalmic Genetics, 2024, v. 45, n. 5, p. 532, doi. 10.1080/13816810.2024.2365737
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- Article
Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females.
- Published in:
- 2022
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- Publication type:
- Report
OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.
- Published in:
- Ophthalmic Genetics, 2011, v. 32, n. 1, p. 24, doi. 10.3109/13816810.2010.524906
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- Article
A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.
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- American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63869
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- Publication type:
- Article
CLINICAL AND GENETIC FINDINGS IN MEXICAN PATIENTS WITH DUANE ANOMALY AND RADIAL RAY MALFORMATIONS/OKIHIRO SYNDROME.
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- Clinical & Translational Investigation / Revista de Investigación Clínica, 2016, v. 68, n. 5, p. 269
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- Publication type:
- Article
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02174-x
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- Article
Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.
- Published in:
- BioMed Research International, 2024, p. 1, doi. 10.1155/2024/2052766
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- Article
Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease.
- Published in:
- Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/785890
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- Publication type:
- Article
Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.
- Published in:
- 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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- Publication type:
- Article
Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2773, doi. 10.1002/ajmg.a.61849
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- Publication type:
- Article
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1223, doi. 10.1002/ajmg.a.61506
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- Publication type:
- Article
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2710, doi. 10.1002/ajmg.a.40644
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- Publication type:
- 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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- Publication type:
- Article
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 282, doi. 10.1002/ajmg.a.36851
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- Publication type:
- Article
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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- Publication type:
- Article
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1716, doi. 10.1002/ajmg.a.34030
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- Publication type:
- Article
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1044
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- Publication type:
- Article
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.625
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- Publication type:
- Article
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
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- Clinical & Experimental Ophthalmology, 2017, v. 45, n. 9, p. 875, doi. 10.1111/ceo.12982
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- Publication type:
- Article
Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.
- Published in:
- Clinical & Experimental Ophthalmology, 2010, v. 38, n. 3, p. 277, doi. 10.1111/j.1442-9071.2010.02241.x
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- Publication type:
- Article
Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.
- Published in:
- American Journal of Case Reports, 2019, v. 20, p. 1566, doi. 10.12659/AJCR.918684
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- Publication type:
- Article
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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- Publication type:
- Article
USH2A mutational spectrum causing syndromic and nonsyndromic retinal dystrophies in a large cohort of Mexican patients.
- Published in:
- Molecular Vision, 2023, v. 29, p. 31
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- Publication type:
- 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.
- Published in:
- Molecular Vision, 2020, v. 26, p. 345
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- Publication type:
- Article
Retinal phenotypic characterization of patients with ABCA4 retinopathy due to the homozygous p.Ala1773Val mutation.
- Published in:
- Molecular Vision, 2018, v. 24, p. 105
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- Publication type:
- Article