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Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants

Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.79

2024

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A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant

American journal of medical genetics. Part A, 2024-09, p.e63869

2024

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Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene

Ophthalmic genetics, 2024-07, p.1-5

2024

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TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families

American journal of medical genetics. Part A, 2024-06, Vol.194 (10), p.e63716-e63716

2024

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Genetic Aspects of Glaucoma: An Updated Review

Current molecular medicine, 2024-01, Vol.24 (10), p.1231-1249

2024

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Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes

BioMed research international, 2024, Vol.2024, p.2052766-8

2024

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Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

International ophthalmology, 2023-10, Vol.43 (10), p.3659-3665

2023

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A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers

International ophthalmology, 2023-03, Vol.43 (3), p.807-815

2023

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Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes

Graefe's archive for clinical and experimental ophthalmology, 2023-02, Vol.261 (2), p.353-365

2023

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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

Boletin medico del Hospital Infantil de Mexico, 2023, Vol.80 (5), p.269-278

2023

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USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients

Molecular vision, 2023, Vol.29, p.31-38

2023

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AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up

Retina (Philadelphia, Pa.), 2022-05, Vol.42 (5), p.981-991

2022

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Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females

Ophthalmic genetics, 2022-04, Vol.43 (2), p.224-229

2022

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Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females

Ophthalmic Genetics, 2022, Vol.43 (2), p.224-229

2022

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Familial Hypercholesterolemia: Update and Review

Endocrine, metabolic & immune disorders drug targets, 2022-02, Vol.22 (2), p.198-211

2022

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Síndrome de Aicardi: reporte de caso. Más allá de la oftalmología

Revista mexicana de oftalmología, 2021-08, Vol.95 (4), p.167-170

2021

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Aicardi syndrome: a case report. Beyond ophthalmology

Revista Mexicana de Oftalmología (English Edition), 2021-07, Vol.95 (4)

2021

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Síndrome de Aicardi: reporte de caso. Más allá de la oftalmología

Revista mexicana de oftalmología, 2021-01, Vol.95 (4S), p.167-170

2021

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Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2773-2777

2020

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Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

American journal of medical genetics. Part A, 2020, Vol.182 (11), p.2773-2777

2020

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Newborn transient patterned hyperpigmentation and anophthalmia

Boletín médico del Hospital Infantil de México, 2020-06, Vol.77 (3), p.146-148

2020

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Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1223-1229

2020

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Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome

European journal of medical genetics, 2020-05, Vol.63 (5), p.103877-103877, Article 103877

2020

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Newborn transient patterned hyperpigmentation and anophthalmia

Boletín médico del Hospital Infantil de México (Spanish edition), 2020-04, Vol.77 (3)

2020

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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

Molecular vision, 2020, Vol.26, p.345-354

2020

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Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants

A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant

Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene

TEK gene‐related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families

Genetic Aspects of Glaucoma: An Updated Review

Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers

Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes

Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients

AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up

Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females

Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females

Familial Hypercholesterolemia: Update and Review

Síndrome de Aicardi: reporte de caso. Más allá de la oftalmología

Aicardi syndrome: a case report. Beyond ophthalmology

Síndrome de Aicardi: reporte de caso. Más allá de la oftalmología

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

Newborn transient patterned hyperpigmentation and anophthalmia

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome

Newborn transient patterned hyperpigmentation and anophthalmia

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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