Výsledky vyhledávání - "Oscar F. Chacon-Camacho"

Akademický článek

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Autor: Felix-Julian Campos-Garcia, Oscar F. Chacon-Camacho, Silvina Contreras-Capetillo, Marisa Cruz-Aguilar, Carolina E. Medina-Escobedo, Claudia M. Moreno-Graciano, Agustín Rodas, Luz del Alba Herrera-Perez, Juan C. Zenteno

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the de

Externí odkaz: https://doaj.org/article/6f2120c6a0f04ca0a26fd176edb8f7c3

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

Autor: Oscar F. Chacon-Camacho, Alan Martinez-Aguilar, Alejandro Navas-Perez, Rocio Arce-Gonzalez, María C. Gonzalez-Gonzalez, Juan Carlos Zenteno

Publikováno v: Ophthalmic Genetics. 43:224-229

PURPOSE X-linked megalocornea (XMC) is a rare anterior segment malformation characterized by a nonprogressive enlargement of the cornea to 13 mm or greater in the setting of normal intraocular pressure. XMC is caused by mutations in the CHRDL1 gene a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d4cae85c5f36723ce1eb950a60b2ebe
https://doi.org/10.1080/13816810.2021.2002917

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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

Autor: Mario Perezpeña-Diazconti, Thania Ordaz-Robles, Juan Carlos Zenteno, Rocio Arce-Gonzalez, Angel Nava-Castañeda, Oscar F. Chacon-Camacho

Publikováno v: American Journal of Medical Genetics Part A. 182:2773-2777

Hereditary mucoepithelial dysplasia (HMD) is an uncommon autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, and inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::735aa0804b574a624714850abced37ec
https://doi.org/10.1002/ajmg.a.61849

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

Autor: Juan C. Zenteno, Rocio Arce-Gonzalez, Rodrigo Matsui, Antonio Lopez-Bolaños, Luis Montes, Alan Martinez-Aguilar, Oscar F. Chacon-Camacho

Publikováno v: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie.

To describe the results of clinical and molecular analyses in a group of patients suffering from inherited macular dystrophies, in which next-generation sequencing (NGS) efficiently detected rare causative mutations.A total of eight unrelated Mexican

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c370237993a199520415fb91121f010d
https://pubmed.ncbi.nlm.nih.gov/35947183

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Novel

Autor: Rocio, Arce-Gonzalez, Oscar F, Chacon-Camacho, Alejandro, Navas-Perez, María C, Gonzalez-Gonzalez, Alan, Martinez-Aguilar, Juan Carlos, Zenteno

Publikováno v: Ophthalmic genetics. 43(2)

X-linked megalocornea (XMC) is a rare anterior segment malformation characterized by a nonprogressive enlargement of the cornea to 13 mm or greater in the setting of normal intraocular pressure. XMC is caused by mutations in theThree subjects (a fath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::24ec0e38f37e4e1c75b5924734369258
https://pubmed.ncbi.nlm.nih.gov/34844512

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Point mutation in the TGFBI gene: surface-enhanced infrared absorption spectroscopy (SEIRAS) as an analytical method

Autor: M. A. Ríos-Corripio, F. J. Villalobos-Piña, J. R. Molina-Contreras, Oscar F. Chacon-Camacho, D. Rosas-Vara, Raul Ayala-Ramirez, C. Frausto-Reyes, Juan Carlos Zenteno, Beatriz Buentello-Volante, R. Hernández-Martínez

Publikováno v: Chemical Papers. 74:1079-1086

A novel method to detect DNA mutations based on gold nanoparticles is described. This bioconjugate was prepared by conjugation of the TGFBI gene on the surface of gold nanoparticles. The surface plasmon resonance band observed in the ultraviolet–vi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1665e9807f0eb9769068228478f7720f
https://doi.org/10.1007/s11696-019-00948-x

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Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis

Autor: Thania Ordaz-Robles, Enrique O Graue-Hernandez, Sofia Perez-Solorzano, Andrew Olivo-Payne, Jose Antonio Bermudez-Magner, Oscar F. Chacon-Camacho, Andrea Córdoba, Juan Carlos Zenteno, Arturo Ramirez-Miranda, Alejandro Navas

Publikováno v: The American Journal of Case Reports

Patient: Female, 11 Final Diagnosis: Encephalocraniocutaneous lipomatosis Symptoms: Conjunctivitis • Ocular irritation Medication: — Clinical Procedure: Excisional biopsy Specialty: Ophthalmology Objective: Rare disease Background: Encephalocrani

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11712aadcc8c196ddd2002f16673c8a6
http://europepmc.org/articles/PMC6824416

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CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel

Autor: Alejandro Navas, Enrique O Graue-Hernandez, Mirena C Astiazarán, Jose Antonio Bermudez-Magner, Oscar F. Chacon-Camacho, Valeria Oliva-Biénzobas, Mariana Takane, Juan Carlos Zenteno

Publikováno v: Cornea. 36:1256-1259

Purpose To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma. Methods The newborn presented with diffuse corneal edema and bilaterally elevated intraocula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ff75e7ee60611bdb4f99cf87072cbe4
https://doi.org/10.1097/ico.0000000000001263

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