Publicaciones

142 artículos en 1960-2026

2026 (6)

1. Yokoyama-Rebollar E, Villarroel CE, Barragán-Arévalo T, Chacón-Camacho OF, Orozco-Ávila DC, Leal-Anaya P, Del Castillo-Ruiz V, Zenteno JC. Expanding the Genetic and Clinical Spectrum of GZF1 -Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome. American journal of medical genetics. Part A. 2026;200(10):2309-2319. DOI · PubMed · PMID: 42170786
2. Apam-Garduño D, Villanueva-Mendoza C, Prado-Larrea C, Zenteno JC, Cortés-González V. Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients. Ophthalmic genetics. 2026;47(5):487-491. DOI · PubMed · PMID: 41917731
3. Campos-Garcia FJ, Castillo-Espinola AM, Medina-Escobedo CE, Zenteno JC, Lara-Riegos JC, Chuc-Chan JA, Velazquez-Ibarra AI, Cauich-Pool PD, Favela-Perez EA, Pech-Gomez PY, Villasis-Keever MA. Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study. Pediatric cardiology. 2026;47(7):2993-3004. DOI · PubMed · PMID: 41247545
4. Zenteno JC, Ordoñez-Labastida V, Montes-Almanza L, Garcia-Martinez F, Martinez-Herrera A, Carreño-Bolaños D, Arce-Gonzalez R, Chacón-Camacho OF. The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025). Orphanet journal of rare diseases. 2026;21(1). DOI · PubMed · PMID: 41862923
5. Campos-Garcia FJ, Castillo-Espinola AM, Medina-Escobedo CE, Zenteno JC, Lara-Riegos JC, Chuc-Chan JA, Velazquez-Ibarra AI, Cauich-Pool PD, Favela-Perez EA, Pech-Gomez PY, Villasis-Keever MA. Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study. Pediatric cardiology. 2026. DOI · PubMed · PMID: 41579197
6. Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, et al.. De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nature genetics. 2026;58(1):169-179. DOI · PubMed · PMID: 41513982

2025 (10)

1. Nava J, Galvez-Romero G, Mora-Roldan G, Parada-Parra OJ, Hernandez-Cruz A, Zenteno JC. Generation of the induced pluripotent stem cell line IOCVi002-A from a patient with the FOXE3-related sclerocornea-aphakia malformation. Stem cell research. 2025;88:103816. DOI · PubMed · PMID: 40850233
2. Fabian-Morales GE, Ordoñez-Labastida V, Rowell WJ, Lambert C, Fanslow C, Robertson A, Zenteno JC. Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long-Read Genome Sequencing. American journal of medical genetics. Part A. 2025;197(10):e64139. DOI · PubMed · PMID: 40454438
3. Li Z, Chng WL, Liu Z, Do T, Nakano M, Chen LJ, Loo Y, Chan ASY, Topouzis F, Nongpiur ME, Ozaki M, Nakano S, et al.. Functionally deficient UBOX5 variants and primary angle-closure glaucoma. Nature communications. 2025;16(1):7620. DOI · PubMed · PMID: 40817263
4. Chacon-Camacho OF, Arce-González R, Martínez-Aguilar A, Zenteno JC. von Willebrand factor A domain containing 8 (VWA8)- associated retinitis pigmentosa: description of a novel case and expansion of the phenotype. International ophthalmology. 2025;45(1):282. DOI · PubMed · PMID: 40638000
5. Rosales-Padron J, Chacon-Camacho OF, Ordoñez-Labastida V, Ledesma-Gil G, Graue-Wiechers F, Zenteno JC. ABCC6 gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks. Ophthalmic genetics. 2025;46(3):237-242. DOI · PubMed · PMID: 40044626
6. Vera-Duarte GR, Eskenazi-Betech R, De la Fuente-Batta I, Carreño-Bolaños D, Chacón-Camacho OF, Zenteno JC, Graue-Hernandez EO. Unveiling the complexity of Schimmelpenning-Feuerstein-Mims syndrome: A comprehensive case study. American journal of ophthalmology case reports. 2025;38:102321. DOI · PubMed · PMID: 40290853
7. Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, et al.. De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa. medRxiv : the preprint server for health sciences. 2025. DOI · PubMed · PMID: 39830270
8. González-Cuevas AR, Ruiz-Cruz ED, Olivera-Bernal GC, Santana-Díaz L, Huicochea-Montiel JC, Zenteno JC. Clinical and molecular characterization of six Mexican patients with FGFR2-related syndromic craniosynostosis. Gaceta medica de Mexico. 2025;161(6):669-673. DOI · PubMed · PMID: 42547069
9. Ordoñez-Labastida V, Zenteno JC. Diagnosis of inborn errors of metabolism through massive DNA sequencing: benefits and limitations. Gaceta medica de Mexico. 2025;161(1):28-32. DOI · PubMed · PMID: 40532251
10. Chacon-Camacho OF, Ordaz-Robles T, Cid-García MA, Yepes-Rodríguez O, Arce-González R, Martínez-Aguilar A, Zenteno JC. 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. 2025;197(1):e63869. DOI · PubMed · PMID: 39264138

2024 (15)

1. Díazceballos-García AL, Matsui R, Chairez Miranda MG, Rosales Padrón JF, Graue-Wiechers F, Zenteno JC. Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants. International ophthalmology. 2024;45(1):1. DOI · PubMed · PMID: 39644342
2. Chacon-Camacho OF, Flores-Lagunes LL, Small KW, Udar N, Udar U, Diaz A, Arce-González R, Molina-Garay C, Martínez-Aguilar A, Montes-Almanza L, Garcia-Martinez F, Gudiño A, et al.. A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family. Molecular vision. 2024;30:400-408. PubMed · PMID: 39959174
3. Wheelock-Gutierrez L, Peña-Ortiz S, de Dios-Cuadras U, Jiménez-Sierra JM, Zenteno JC, Payro-Evia K, Dorantes-Diez MA, Enriquez-Gonzalez AB. X-LINKED JUVENILE RETINOSCHISIS ASSOCIATED WITH AN RS1 IN-FRAME DELETION AND BILATERAL CENTRAL SEROUS CHORIORETINOPATHY. Retinal cases & brief reports. 2024;18(6):735-739. DOI · PubMed · PMID: 37582336
4. Fabian-Morales GE, Ordoñez-Labastida V, Garcia-Martínez F, Montes-Almanza L, Zenteno JC. Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach. Molecular genetics & genomic medicine. 2024;12(10):e70019. DOI · PubMed · PMID: 39400524
5. de J López-Rodríguez VR, Arce-González R, Navas-Pérez A, Graue-Hernández E, García-Martínez F, Montes-Almanza L, Chacón-Camacho OF, Zenteno JC. Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene. Ophthalmic genetics. 2024;45(5):532-536. DOI · PubMed · PMID: 38956867
6. Chacon-Camacho OF, Ordaz-Robles T, Cid-García MA, Hofmann-Blancas ME, Ledesma-Gil J, García-Huerta MM, Prado-Larrea C, Cortés-González V, Lozano-Garza RI, García-Vega D, Kim J, Khang R, et al.. 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;194(10):e63716. DOI · PubMed · PMID: 38847211
7. Chacon-Camacho OF, Xilotl-de Jesús N, Calderón-Martínez E, Ordoñez-Labastida V, Neria-Gonzalez MI, Villafuerte-de la Cruz R, Martinez-Rojas A, Zenteno JC. 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;299(1):79. DOI · PubMed · PMID: 39162841
8. Villarroel CE, Zenteno JC, Barragán-Arévalo T, Leal-Anaya P, Pérez-Muñoz E, Frías-Soria CL, López-Corella E, Yokoyama E. Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis. Reproductive sciences (Thousand Oaks, Calif.). 2024;31(7):1861-1867. DOI · PubMed · PMID: 38448741
9. Ruiz-Chavolla D, Barragán-Arévalo T, Cortes-Muñoz D, Sánchez-Ruiz J, Zenteno JC, Ledesma-Gil G. Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome. Ophthalmic genetics. 2024;45(3):299-302. DOI · PubMed · PMID: 38526149
10. Fuentes-Nava AG, Fierro-Arias L, Zenteno JC, Apam-Garduño D. Clinical and genetic analysis of the first Mexican patient with a diagnosis of pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. Clinical and experimental dermatology. 2024;49(4):441-443. DOI · PubMed · PMID: 37942851
11. López-Rodríguez VR, Arce-González R, Martínez-Aguilar A, Rodríguez-López CE, Groman-Lupa S, Neria-González MI, Rodríguez-Uribe G, Zenteno JC. Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort. Journal of ophthalmology. 2024;2024:4003914. DOI · PubMed · PMID: 38468717
12. Mora-Roldan GA, Nava J, Gazarian K, Zenteno JC. Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome. Stem cell research. 2024;75:103309. DOI · PubMed · PMID: 38217995
13. Corona-Rivera JR, Rios-Flores IM, Zenteno JC, Peña-Padilla C, Castillo-Reyes K, Bobadilla-Morales L, Corona-Rivera A, Acosta-Fernández E, Bruckman-Jiménez A. A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene. Molecular syndromology. 2024;15(1):51-57. DOI · PubMed · PMID: 38357259
14. Zenteno JC, Chacón-Camacho OF, Ordoñez-Labastida V, Miranda-Duarte A, Del Castillo C, Nava J, Mendoza F, Montes-Almanza L, Mora-Roldán G, Gazarian K. Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes. BioMed research international. 2024;2024:2052766. DOI · PubMed · PMID: 38249632
15. Chacon-Camacho OF, Arce-Gonzalez R, Sanchez-de la Rosa F, Urióstegui-Rojas A, Hofmann-Blancas ME, Mata-Flores F, Zenteno JC. Genetic Aspects of Glaucoma: An Updated Review. Current molecular medicine. 2024;24(10):1231-1249. DOI · PubMed · PMID: 37272463

2023 (10)

1. Chacon-Camacho OF, Astiazarán MC, Vera-Duarte G, Gutiérrez-Múgica H, Macriz-Romero N, Graue-Hernandez EO, Zenteno JC. High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox". European journal of medical genetics. 2023;66(10):104842. DOI · PubMed · PMID: 37709012
2. Corona-Rivera JR, Zenteno JC, Ordoñez-Labastida V, Cruz-Cruz JP, Cortés-Pastrana RC, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Martínez-Herrera A. MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype. European journal of medical genetics. 2023;66(10):104826. DOI · PubMed · PMID: 37657631
3. Macriz-Romero N, Vera-Duarte GR, Guerrero-Becerril J, Chacón-Camacho OF, Astiazarán MC, Zenteno JC, Graue-Hernandez EO. Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population. International ophthalmology. 2023;43(10):3659-3665. DOI · PubMed · PMID: 37542530
4. Velazquez-Soto H, Groman-Lupa S, Cruz-Aguilar M, Salazar AL, Zenteno JC, Jimenez-Martinez MC. Exogenous CFH Modulates Levels of Pro-Inflammatory Mediators to Prevent Oxidative Damage of Retinal Pigment Epithelial Cells with the At-Risk CFH Y402H Variant. Antioxidants (Basel, Switzerland). 2023;12(8). DOI · PubMed · PMID: 37627535
5. Ordoñez-Labastida V, Chacon-Camacho OF, Lopez-Rodriguez VR, Zenteno JC. USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients. Molecular vision. 2023;29:31-38. PubMed · PMID: 37287646
6. Corona-Rivera JR, Zenteno JC, López-Pérez LG, Yokoyama-Rebollar E, Villarroel CE, Barragán-Arévalo T, Montes-Almanza LÁ, Zepeda-Romero LC, Morales-Domínguez GE, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A. First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations. Molecular syndromology. 2023;14(2):143-151. DOI · PubMed · PMID: 37064331
7. Leal-Rodríguez R, Barragán-Arévalo T, Pérez-Torres A, Giraldo-Gómez DM, Zenteno JC. Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy. Clinical dysmorphology. 2023;32(2):62-64. DOI · PubMed · PMID: 36779776
8. Arce-González R, Chacon-Camacho OF, Ordoñez-Labastida V, Graue-Hernandez EO, Navas-Pérez A, Zenteno JC. A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers. International ophthalmology. 2023;43(3):807-815. DOI · PubMed · PMID: 36048286
9. Zenteno JC, Arce-Gonzalez R, Matsui R, Lopez-Bolaños A, Montes L, Martinez-Aguilar A, Chacon-Camacho OF. 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 = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 2023;261(2):353-365. DOI · PubMed · PMID: 35947183
10. Chacón-Camacho ÓF, Arce-González R, Zenteno JC, Granillo MT. 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;80(5):269-278. DOI · PubMed · PMID: 37963299

2022 (10)

1. Irusteta L, Ramírez-Miranda A, Navas-Pérez A, Montes-Almanza L, Arteaga J, García-Martínez F, Graue-Hernández E, Zenteno JC. Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant. Ophthalmic genetics. 2022;43(5):589-593. DOI · PubMed · PMID: 35470743
2. Kumari A, Ayala-Ramirez R, Zenteno JC, Huffman K, Sasik R, Ayyagari R, Borooah S. Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration. Scientific reports. 2022;12(1):15273. DOI · PubMed · PMID: 36088481
3. Villafuerte-De la Cruz R, Chacon-Camacho OF, Rodriguez-Martinez AC, Xilotl-De Jesus N, Arce-Gonzalez R, Rodriguez-De la Torre C, Valdez-Garcia JE, Rojas-Martinez A, Zenteno JC. Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1. Frontiers in genetics. 2022;13:949437. DOI · PubMed · PMID: 36051698
4. Mora-Roldan GA, Galaviz-Hernandez C, Hiebert-Froese J, Hernandez A, Montes L, Duran-Pasten ML, Gazarian K, Zenteno JC. 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?. American journal of medical genetics. Part A. 2022;188(7):1972-1978. DOI · PubMed · PMID: 35274444
5. Dalma-Weiszhausz J, Chacón-Camacho O, Chevez-Barrios P, Zenteno JC, Franco-Cárdenas V, García-Montaño LA, Pérez-Bravo J, García-Montalvo IA, Jiménez-Sierra JM, Dalma A. AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up. Retina (Philadelphia, Pa.). 2022;42(5):981-991. DOI · PubMed · PMID: 35125479
6. Arce-Gonzalez R, Chacon-Camacho OF, Navas-Perez A, Gonzalez-Gonzalez MC, Martinez-Aguilar A, Zenteno JC. Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females. Ophthalmic genetics. 2022;43(2):224-229. DOI · PubMed · PMID: 34844512
7. Bautista-Martínez JS, Mata-Marín JA, Sandoval-Ramírez JL, Chaparro-Sánchez A, Manjarrez-Téllez B, Uribe-Noguez LA, Gaytán-Martínez J, Núñez-Armendáriz M, Cruz-Sánchez A, Núñez-Rodríguez N, Iván MA, Morales-González GS, et al.. Contribution of APOA5, APOC3, CETP, ABCA1 and SIK3 genetic variants to hypertriglyceridemia development in Mexican HIV-patients receiving antiretroviral therapy. Pharmacogenetics and genomics. 2022;32(3):101-110. DOI · PubMed · PMID: 34693928
8. Ordoñez-Labastida V, Montes-Almanza L, García-Martínez F, Zenteno JC. Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 2022;74(4):219-226. DOI · PubMed · PMID: 36087940
9. Ramírez-García MÁ, Dávila-Ortiz de Montellano DJ, Martínez-Ruano L, Ochoa-Morales A, Romero-Hidalgo S, Zenteno JC, Yescas-Gómez P. Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population. Neuro-degenerative diseases. 2022;22(1):34-42. DOI · PubMed · PMID: 35926480
10. Chacón-Camacho OF, Pozo-Molina G, Méndez-Catalá CF, Reyes-Reali J, Méndez-Cruz R, Zenteno JC. Familial Hypercholesterolemia: Update and Review. Endocrine, metabolic & immune disorders drug targets. 2022;22(2):198-211. DOI · PubMed · PMID: 33563162

2020 (8)

1. López-Ramírez S, Santillán-Hernández Y, Carrasco-Gerard E, Rodas-Serrano A, Zenteno JC. Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 2020;73(3):129-131. DOI · PubMed · PMID: 33262542
2. Barreda Fierro R, Herrera Mora P, Zenteno JC, Villarroel Cortés CE. Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease. Neuromuscular disorders : NMD. 2020;30(12):986-990. DOI · PubMed · PMID: 33187793
3. Martínez-Velasco A, Perez-Ortiz AC, Antonio-Aguirre B, Martínez-Villaseñor L, Lira-Romero E, Palacio-Pastrana C, Zenteno JC, Ramirez I, Zepeda-Palacio C, Mendoza-Velásquez C, Camacho-Ordóñez A, Ortiz Bibriesca DM, et al.. Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches. Ophthalmic genetics. 2020;41(6):539-547. DOI · PubMed · PMID: 32838591
4. Chacon-Camacho OF, Arce-Gonzalez R, Ordaz-Robles T, Perezpeña-Diazconti M, Nava-Castañeda A, Zenteno JC. 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;182(11):2773-2777. DOI · PubMed · PMID: 32902915
5. Cabral-Macias J, Garcia-Montaño LA, Pérezpeña-Díazconti M, Aguilar MC, Garcia G, Vencedor-Meraz CI, Graue-Hernandez EO, Chacón-Camacho OF, Zenteno JC. 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;26:345-354. PubMed · PMID: 32368002
6. Chacon-Camacho OF, Barragán-Arévalo T, Villarroel CE, Almanza-Monterrubio M, Zenteno JC. Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome. European journal of medical genetics. 2020;63(5):103877. DOI · PubMed · PMID: 32028042
7. Acosta-Fernández E, Zenteno JC, Chacón-Camacho OF, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Romo-Huerta CO, Zepeda-Romero LC, López-Marure E, Acosta-León J, García-Cruz D, Maciel-Cruz EJ, et al.. Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. American journal of medical genetics. Part A. 2020;182(5):1223-1229. DOI · PubMed · PMID: 32022998
8. Zenteno JC, García-Montaño LA, Cruz-Aguilar M, Ronquillo J, Rodas-Serrano A, Aguilar-Castul L, Matsui R, Vencedor-Meraz CI, Arce-González R, Graue-Wiechers F, Gutiérrez-Paz M, Urrea-Victoria T, et al.. Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing. Molecular genetics & genomic medicine. 2020;8(1). DOI · PubMed · PMID: 31736247

2019 (9)

1. Campos-Garcia FJ, Chacon-Camacho OF, Contreras-Capetillo S, Cruz-Aguilar M, Medina-Escobedo CE, Moreno-Graciano CM, Rodas A, Herrera-Perez LDA, Zenteno JC. Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico. Molecular genetics and metabolism reports. 2019;21:100533. DOI · PubMed · PMID: 31788423
2. Córdoba A, Graue-Hernández EO, Navas A, Chacon-Camacho OF, Zenteno JC, Ramirez-Miranda A, Bermudez-Magner JA, Ordaz-Robles T, Pérez-Solórzano S, Olivo-Payne A. Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis. The American journal of case reports. 2019;20:1566-1571. DOI · PubMed · PMID: 31649234
3. Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, Rautenbach RM, Ziskind A, Williams SE, Carmichael TR, Ramsay M, et al.. The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome. Human molecular genetics. 2019;28(15):2531-2548. DOI · PubMed · PMID: 30986821
4. Chacón-Camacho OF, Salgado-Medina A, Alcaraz-Lares N, López-Moreno D, Barragán-Arévalo T, Nava-Castañeda A, Rodríguez-Uribe G, Lieberman E, Rodríguez-Cabrera L, González-Del Angel A, Borbolla AM, Fernández-Hernández L, et al.. Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus. Gene. 2019;706:62-68. DOI · PubMed · PMID: 31048069
5. Kheir V, Cortés-González V, Zenteno JC, Schorderet DF. Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies. Human mutation. 2019;40(6):675-693. DOI · PubMed · PMID: 30830990
6. Chacon-Camacho OF, Lopez-Moreno D, Morales-Sanchez MA, Hofmann E, Pacheco-Quito M, Wieland I, Cortes-Gonzalez V, Villanueva-Mendoza C, Zenker M, Zenteno JC. Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. Molecular genetics & genomic medicine. 2019;7(5):e625. DOI · PubMed · PMID: 30891959
7. Chekuri A, Sahu B, Chavali VRM, Voronchikhina M, Soto-Hermida A, Suk JJ, Alapati AN, Bartsch DU, Ayala-Ramirez R, Zenteno JC, Dinculescu A, Jablonski MM, et al.. Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy. Human gene therapy. 2019;30(5):632-650. DOI · PubMed · PMID: 30499344
8. Adams-Reyes N, Coral-Vázquez RM, Méndez JP, Tenorio A, Zenteno JC, Villegas-Ruiz V, Canto P. WHOLE SEQUENCING OF THE MITOCHONDRIAL GENOME OF BREAST CANCER TISSUE IN MEXICAN-MESTIZO POSTMENOPAUSAL WOMEN WITH DIFFERENT BODY MASS INDEX. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 2019;71(4):237-245. DOI · PubMed · PMID: 31448780
9. Galaz-Montoya CI, Alcaraz-Estrada S, García-Montaño LA, Zenteno JC, Piña-Aguilar RE. A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing. Boletin medico del Hospital Infantil de Mexico. 2019;76(1):49-53. DOI · PubMed · PMID: 30657467

2018 (9)

1. Blackburn PR, Chacon-Camacho OF, Ortiz-González XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, et al.. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. American journal of medical genetics. Part A. 2018;176(12):2710-2719. DOI · PubMed · PMID: 30450772
2. Astiazarán MC, García-Montaño LA, Sánchez-Moreno F, Matiz-Moreno H, Zenteno JC. Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes. American journal of medical genetics. Part A. 2018;176(12):2637-2645. DOI · PubMed · PMID: 30450742
3. Matías-Pérez D, García-Montaño LA, Cruz-Aguilar M, García-Montalvo IA, Nava-Valdéz J, Barragán-Arevalo T, Villanueva-Mendoza C, Villarroel CE, Guadarrama-Vallejo C, la Cruz RV, Chacón-Camacho O, Zenteno JC. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. Journal of human genetics. 2018;63(11):1169-1180. DOI · PubMed · PMID: 30181649
4. Jiménez-Ávila CE, Villegas-Ruíz V, Zapata-Tarres M, Rubio-Portillo AE, Pérez López EI, Zenteno JC, Juárez-Méndez S. Centromere-associated protein E expresses a novel mRNA isoform in acute lymphoblastic leukemia. International journal of molecular epidemiology and genetics. 2018;9(5):43-54. PubMed · PMID: 30515258
5. Perez-Ortiz AC, Luna-Angulo A, Zenteno JC, Rendon A, Cortes-Ballinas LG, Jimenez-Collado D, Antonio-Aguirre B, Peralta-Ildefonso MJ, Ramírez I, Jacob-Kuttothara S, Estrada-Mena FJ. Significant Association Between Variant in SGCD and Age-Related Macular Degeneration. Genes. 2018;9(10). DOI · PubMed · PMID: 30257524
6. Quiroz-Casian N, Chacon-Camacho OF, Barragan-Arevalo T, Nava-Valdez J, Lieberman E, Salgado-Medina A, Navas A, Graue-Hernandez EO, Zenteno JC. Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature. Cornea. 2018;37(9):1178-1181. DOI · PubMed · PMID: 29878917
7. López-Hernández B, Méndez JP, Coral-Vázquez RM, Benítez-Granados J, Zenteno JC, Villegas-Ruiz V, Calzada-León R, Soderlund D, Canto P. Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development. Reproductive biomedicine online. 2018;37(1):107-112. DOI · PubMed · PMID: 29673731
8. López-Rubio S, Chacon-Camacho OF, Matsui R, Guadarrama-Vallejo D, Astiazarán MC, Zenteno JC. Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation. Molecular vision. 2018;24:105-114. PubMed · PMID: 29422768
9. Quiroz-Casian N, Lozano-Giral D, Miranda-Duarte A, Garcia-Montalvo I, Rodriguez-Loaiza JL, Zenteno JC. ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION. Retina (Philadelphia, Pa.). 2018;38(1):187-191. DOI · PubMed · PMID: 28106707

2017 (16)

1. Astiazarán MC, Cervantes-Sodi M, Rebolledo-Enríquez E, Chacón-Camacho O, Villegas V, Zenteno JC. Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. Genetic testing and molecular biomarkers. 2017;21(12):742-746. DOI · PubMed · PMID: 29131652
2. Pérez-Solórzano S, Chacón-Camacho OF, Astiazarán MC, Ledesma-Gil G, Zenteno JC. PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants. Clinical & experimental ophthalmology. 2017;45(9):875-883. DOI · PubMed · PMID: 28488383
3. González-Huerta NC, Borgonio-Cuadra VM, Zenteno JC, Cortés-González S, Duarte-Salazar C, Miranda-Duarte A. D14 repeat polymorphism of the asporin gene is associated with primary osteoarthritis of the knee in a Mexican Mestizo population. International journal of rheumatic diseases. 2017;20(12):1935-1941. DOI · PubMed · PMID: 26620055
4. Chacón-Camacho OF, García-Montaño LA, Zenteno JC. The clinical implications of molecular monitoring and analyses of inherited retinal diseases. Expert review of molecular diagnostics. 2017;17(11):1009-1021. DOI · PubMed · PMID: 28945154
5. Oliva-Biénzobas V, Navas A, C Astiazarán M, Chacón-Camacho OF, A Bermúdez-Magner J, Takane M, Graue-Hernández E, Zenteno JC. CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel. Cornea. 2017;36(10):1256-1259. DOI · PubMed · PMID: 28644236
6. Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, et al.. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature genetics. 2017;49(7):993-1004. DOI · PubMed · PMID: 28553957
7. Cruz-Aguilar M, Galaviz-Hernández C, Hiebert-Froese J, Sosa-Macías M, Zenteno JC. A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico. Genetic testing and molecular biomarkers. 2017;21(6):397-401. DOI · PubMed · PMID: 28402684
8. Montecinos-Contreras C, Sepúlveda-Vázquez HE, Pelcastre-Luna E, Zenteno JC, Villanueva-Mendoza C. Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis. Archivos de la Sociedad Espanola de Oftalmologia. 2017;92(4):189-192. DOI · PubMed · PMID: 27746066
9. Chacón-Camacho ÓF, Zenteno JC. [Gene therapy for vision restoration in patients with Leber congenital amaurosis (LCA) due to RPE65 gene mutations: beginning the phase IV trial]. Gaceta medica de Mexico. 2017;153(2):276-278. PubMed · PMID: 28474714
10. Chacon-Camacho OF, Zenker M, Schanze D, Ledesma-Gil J, Zenteno JC. Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature. European journal of medical genetics. 2017;60(3):190-194. DOI · PubMed · PMID: 28111185
11. Cruz-Aguilar M, Guerrero-de Ferran C, Tovilla-Canales JL, Nava-Castañeda A, Zenteno JC. Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD). Journal of investigative medicine : the official publication of the American Federation for Clinical Research. 2017;65(3):705-708. DOI · PubMed · PMID: 27980005
12. Villegas-Ruiz V, Hendlmeier F, Buentello-Volante B, Rodríguez-Loaiza JL, Miranda-Duarte A, Zenteno JC. Genome-wide mRNA analysis reveals a TUBD1 isoform profile as a potential biomarker for diabetic retinopathy development. Experimental eye research. 2017;155:99-106. DOI · PubMed · PMID: 28137601
13. Kattan JM, Serna-Ojeda JC, Sharma A, Kim EK, Ramirez-Miranda A, Cruz-Aguilar M, Cervantes AE, Frausto RF, Zenteno JC, Graue-Hernandez EO, Aldave AJ. Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. Cornea. 2017;36(2):210-216. DOI · PubMed · PMID: 28060069
14. García-Gómez E, Jaso-Vera ME, Juárez-Verdayes MA, Alcántar-Curiel MD, Zenteno JC, Betanzos-Cabrera G, Peralta H, Rodríguez-Martínez S, Cancino-Díaz ME, Jan-Roblero J, Cancino-Diaz JC. The (95)(Δ)G mutation in the 5'untranslated region of the norA gene increases efflux activity in Staphylococcus epidermidis isolates. Microbial pathogenesis. 2017;103:139-148. DOI · PubMed · PMID: 28017900
15. Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC. 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. PloS one. 2017;12(1):e0170280. DOI · PubMed · PMID: 28103310
16. Matías-Pérez D, García-Montalvo IA, Zenteno JC. Genes relacionados con microftalmia y anoftalmia hereditarias. Gaceta medica de Mexico. 2017;153(7):824-829. DOI · PubMed · PMID: 29414965

2016 (8)

1. Zenteno JC, Correa-Gómez V, Pompa-Mera EN, Lima G, Pedroza-Seres M, Flores-Suárez LF. The PTPN22 R620W polymorphism in anti-neutrophil cytoplasmic antibody-associated vasculitis in Mexican Mestizos. Rheumatology (Oxford, England). 2016;55(12):2271-2273. DOI · PubMed · PMID: 27686100
2. Cortés-González V, Zenteno JC, Guzmán-Sánchez M, Giordano-Herrera V, Guadarrama-Vallejo D, Ruíz-Quintero N, Villanueva-Mendoza C. Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations. American journal of medical genetics. Part A. 2016;170(12):3294-3297. DOI · PubMed · PMID: 27604145
3. Chacón-Camacho ÓF, Cabral-Macías J, Ayala-Ramírez R, Arteaga-Vázquez J, Svyryd Y, Helmes K, Pérez-Hernández N, Mutchinick OM, Zenteno JC. Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 2016;68(5):269-274. PubMed · PMID: 27941963
4. Cabral-Macias J, Zenteno JC, Ramirez-Miranda A, Navas A, Bermudez-Magner JA, Boullosa-Graña VM, Graue-Hernandez EO, Buentello-Volante B. Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation. Cornea. 2016;35(7):987-90. DOI · PubMed · PMID: 27149532
5. Chacón-Camacho OF, Sobreira N, You J, Piña-Aguilar RE, Villegas-Ruiz V, Zenteno JC. Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. American journal of medical genetics. Part A. 2016;170(7):1934-7. DOI · PubMed · PMID: 27139419
6. Chacon-Camacho OF, Fuerte-Flores BI, Zenteno JC. TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes. American journal of medical genetics. Part A. 2016;170(6):1635-8. DOI · PubMed · PMID: 27028492
7. Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, Duvesh R, Chen LJ, Li Z, Nongpiur ME, Perera SA, Qiao C, et al.. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nature genetics. 2016;48(5):556-62. DOI · PubMed · PMID: 27064256
8. Piña-Aguilar RE, Regalado-Hernández MÁ, Moreno-García JD, Buentello-Volante B, Chacón-Camacho OF, Gallegos-Rivas MC, Kazakova E, Santillán-Hernández Y, Zenteno JC. A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy. Systems biology in reproductive medicine. 2016;62(2):146-51. DOI · PubMed · PMID: 26901084

2015 (9)

1. Villegas-Ruiz V, Campos-Garcia FJ, Contreras-Capetillo S, Moreno-Graciano CM, Maldonado-Solis FA, Maldonado-Solis MA, Zenteno JC. Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia. Clinical biochemistry. 2015;48(18):1273-6. DOI · PubMed · PMID: 26169240
2. Chacon-Camacho OF, Fuerte-Flores BI, Ricardez-Marcial EF, Zenteno JC. SOX2 anophthalmia syndrome and dental anomalies. American journal of medical genetics. Part A. 2015;167A(11):2830-3. DOI · PubMed · PMID: 26250054
3. Flores-Páez LA, Zenteno JC, Alcántar-Curiel MD, Vargas-Mendoza CF, Rodríguez-Martínez S, Cancino-Diaz ME, Jan-Roblero J, Cancino-Diaz JC. Molecular and Phenotypic Characterization of Staphylococcus epidermidis Isolates from Healthy Conjunctiva and a Comparative Analysis with Isolates from Ocular Infection. PloS one. 2015;10(8):e0135964. DOI · PubMed · PMID: 26275056
4. Zenteno JC, Crespí J, Buentello-Volante B, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Marieges MT. Erratum to: Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 2015;253(8):1417. DOI · PubMed · PMID: 26142150
5. Blanco-Aguirre ME, la Parra DR, Tapia-Garcia H, Gonzalez-Rodriguez J, Welschen D, Arroyo-Yllanes ME, Escudero I, Nuñez-Hernandez JA, Medina-Bravo P, Zenteno JC. Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients. Gene. 2015;566(1):63-7. DOI · PubMed · PMID: 25895475
6. Chacón-Camacho ÓF, Astorga-Carballo A, Zenteno JC. [Gene therapy for hereditary ophthalmological diseases: Advances and future perspectives]. Gaceta medica de Mexico. 2015;151(4):501-11. PubMed · PMID: 26290027
7. Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, et al.. Submicroscopic deletions at 13q32.1 cause congenital microcoria. American journal of human genetics. 2015;96(4):631-9. DOI · PubMed · PMID: 25772937
8. Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, et al.. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nature genetics. 2015;47(4):387-92. DOI · PubMed · PMID: 25706626
9. Méndez JP, Zenteno JC, Coronel A, Soriano-Ursúa MA, Valencia-Villalvazo EY, Soderlund D, Coral-Vázquez RM, Canto P. Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism. Endocrine research. 2015;40(3):166-71. DOI · PubMed · PMID: 25531638

2014 (8)

1. Valdes-Flores M, Hidalgo-Bravo A, Casas-Avila L, Chima-Galan C, Hazan-Lasri EJ, Pineda-Gomez E, Lopez-Estrada D, Zenteno JC. Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings. International journal of clinical and experimental medicine. 2014;7(11):3915-23. PubMed · PMID: 25550899
2. Zenteno JC, Crespí J, Buentello-Volante B, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Marieges MT. Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 2014;252(11):1789-94. DOI · PubMed · PMID: 25228067
3. Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M. Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome. Cornea. 2014;33(3):247-51. DOI · PubMed · PMID: 24351571
4. Chacon-Camacho OF, Buentello-Volante B, Velázquez-Montoya R, Ayala-Ramirez R, Zenteno JC. Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings. Gene. 2014;534(2):218-21. DOI · PubMed · PMID: 24211322
5. Contreras AV, Zenteno JC, Fernández-López JC, Rodríguez-Corona U, Falfán-Valencia R, Sebastian L, Morales F, Ochoa-Contreras D, Carnevale A, Silva-Zolezzi I. CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans. Molecular vision. 2014;20:105-16. PubMed · PMID: 24453474
6. Piña-Aguilar RE, Vera-Loaiza A, Chacón-Camacho OF, Zenteno JC, Nuñez-Orozco L, Santillán-Hernández Y. Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease. Case reports in neurological medicine. 2014;2014:785890. DOI · PubMed · PMID: 25349751
7. Vázquez-Martínez ER, Varela-Fascinetto G, García-Delgado C, Rodríguez-Espino BA, Sánchez-Boiso A, Valencia-Mayoral P, Heller-Rosseau S, Pelcastre-Luna EL, Zenteno JC, Cerbón M, Morán-Barroso VF. Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population. Meta gene. 2014;2:32-40. DOI · PubMed · PMID: 25606387
8. Chacon-Camacho OF, Arce-Gonzalez R, Villegas-Ruiz V, Pelcastre-Luna E, Uría-Gómez CE, Granillo-Alvarez M, Zenteno JC. Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome. Meta gene. 2014;2:25-31. DOI · PubMed · PMID: 25606386

2013 (2)

1. Pantoja-Melendez C, Ali M, Zenteno JC. An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village. Molecular vision. 2013;19:1866-70. PubMed · PMID: 24019743
2. Toral-López J, Córdoba-Cabeza T, Villeda M, Cortes-Castillo G, Zenteno JC. Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III. Journal of pediatric genetics. 2013;2(1):43-7. DOI · PubMed · PMID: 27625839

2011 (2)

1. Jimenez-Martinez MC, Cruz F, Groman-Lupa S, Zenteno JC. Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. International journal of immunogenetics. 2011;38(3):233-42. DOI · PubMed · PMID: 21320290
2. Zenteno JC, Buentello-Volante B, Ayala-Ramirez R, Villanueva-Mendoza C. Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. American journal of medical genetics. Part A. 2011;155A(5):1001-6. DOI · PubMed · PMID: 21484995

2009 (2)

1. Zenteno JC, Buentello-Volante B, Quiroz-González MA, Quiroz-Reyes MA. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Molecular vision. 2009;15:1794-8. PubMed · PMID: 19753314
2. Zenteno JC, Correa-Gomez V, Santacruz-Valdez C, Suarez-Sanchez R, Villanueva-Mendoza C. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations. Experimental eye research. 2009;89(2):172-7. DOI · PubMed · PMID: 19303004

2005 (2)

1. Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC. A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. American journal of medical genetics. Part A. 2005;136(2):190-3. DOI · PubMed · PMID: 15940695
2. Mutchinick OM, Morales JJ, Zenteno JC, del Castillo CF. A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype. Fertility and sterility. 2005;83(1):201-4. DOI · PubMed · PMID: 15652909

2004 (3)

1. Zenteno JC, Carranza-Lira S, Kofman-Alfaro S. Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome. Archives of gynecology and obstetrics. 2004;269(4):270-3. DOI · PubMed · PMID: 15221321
2. Kofman-Alfaro S, Zenteno JC. Genetic services in Mexico City. Community genetics. 2004;7(2-3):142-5. DOI · PubMed · PMID: 15539831
3. Berdón-Zapata V, Granillo-Alvarez M, Valdés-Flores M, García-Ortiz JE, Kofman-Alfaro S, Zenteno JC. p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. Journal of orthopaedic research : official publication of the Orthopaedic Research Society. 2004;22(1):1-5. DOI · PubMed · PMID: 14656652

2003 (1)

1. Zenteno JC, Carranza-Lira S, Jiménez AL, Kofman S. A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis. Journal of endocrinological investigation. 2003;26(11):1117-9. DOI · PubMed · PMID: 15008251

2002 (4)

1. Pérez-Cabrera A, Kofman-Alfaro S, Zenteno JC. Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome. Journal of orthopaedic research : official publication of the Orthopaedic Research Society. 2002;20(5):899-901. DOI · PubMed · PMID: 12382951
2. Queipo G, Zenteno JC, Peña R, Nieto K, Radillo A, Dorantes LM, Eraña L, Lieberman E, Söderlund D, Jiménez AL, Ramón G, Kofman-Alfaro S. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Human genetics. 2002;111(3):278-83. DOI · PubMed · PMID: 12215841
3. Monroy N, López M, Cervantes A, García-Cruz D, Zafra G, Canún S, Zenteno JC, Kofman-Alfaro S. Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes. American journal of medical genetics. 2002;107(3):181-9. DOI · PubMed · PMID: 11807897
4. Zenteno JC, Chávez B, Vilchis F, Kofman-Alfaro S. Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor. Hormone research. 2002;57(3-4):90-3. DOI · PubMed · PMID: 12006704

2001 (1)

1. Zenteno JC, Jiménez AL, Canto P, Valdéz H, Méndez JP, Kofman-Alfaro S. Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue. American journal of medical genetics. 2001;99(3):244-7. DOI · PubMed · PMID: 11241497

2000 (1)

1. Jiménez AL, Kofman-Alfaro S, Berumen J, Hernández E, Canto P, Méndez JP, Zenteno JC. Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA. American journal of medical genetics. 2000;93(5):417-20. PubMed · PMID: 10951467

1999 (2)

1. Zenteno JC, Venegas C, Kofman-Alfaro S. Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease. Pediatric dermatology. 1999;16(2):103-7. DOI · PubMed · PMID: 10337671
2. Zenteno JC, Méndez JP, Maya-Núñez G, Ulloa-Aguirre A, Kofman-Alfaro S. Renal abnormalities in patients with Kallmann syndrome. BJU international. 1999;83(4):383-6. DOI · PubMed · PMID: 10210557

1998 (2)

1. Miranda A, Zenteno JC, Santiago E, Kofman-Alfaro S. Autosomal dominant inheritance of adducted thumbs and other digital anomalies. Clinical genetics. 1998;54(1):83-5. DOI · PubMed · PMID: 9727747
2. López-López M, Zenteno JC, Méndez JP, Kofman-Alfaro S. [Genetic heterogeneity and phenotypic variability in 46,XY sex reversal]. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 1998;50(2):171-6. PubMed · PMID: 9658940

1997 (1)

1. Zenteno JC, López M, Vera C, Méndez JP, Kofman-Alfaro S. Two SRY-negative XX male brothers without genital ambiguity. Human genetics. 1997;100(5-6):606-10. DOI · PubMed · PMID: 9341880

1996 (1)

1. Zenteno JC, Aguinaga M, Chávez V, Sastré N, Rivera MR, Kofman-Alfaro S. Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution. Clinical genetics. 1996;50(3):152-5. DOI · PubMed · PMID: 8946115