| 1 | A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant | Coautor: Zenteno J.C., Chacon-Camacho O.F., Ordaz-Robles T., Cid-García M.A., et al. | 2025 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 001311168300001
Scopus-id: 2-s2.0-85203966290
| 0 | 0 |
| 2 | Exome sequencing and molecular dynamics simulation characterizes a compound heterozygous GCDH missense variant leading to glutaric aciduria type 1 in a paediatric patient from Jammu and Kashmir, India | Coautor: Zenteno, JC, Mir, YR, Agrahari, AK, Choudhary, A, et al. | 2025 | Gene Reports | WoS-id: 001367226200001
Scopus-id: 2-s2.0-85209871749
| 0 | 0 |
| 3 | Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants | Coautor: Zenteno J.C., Díazceballos-García A.L., Matsui R., Chairez Miranda M.G., et al. | 2025 | INTERNATIONAL OPHTHALMOLOGY | WoS-id: 001392642600001
Scopus-id: 2-s2.0-85211114859
| 0 | 0 |
| 4 | ABCC6 gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks | Coautor: Zenteno, JC, Rosales-Padron, J, Chacon-Camacho, OF, Ordoñez-Labastida, V, et al. | 2025 | OPHTHALMIC GENETICS | WoS-id: 001438404100001
Scopus-id: 2-s2.0-86000462907
| 0 | 0 |
| 5 | Diagnosis of inborn errors of metabolism through massive DNA sequencing: benefits and limitations | 2ᵒ autor y autor de correspondencia: Zenteno, JC, Ordóñez-Labastida, V | 2025 | GACETA MEDICA DE MEXICO | WoS-id: 001491913600005
| 0 | 0 |
| 6 | Unveiling the complexity of Schimmelpenning?Feuerstein?Mims syndrome: A comprehensive case study | Coautor: Zenteno J.C., Vera-Duarte G.R., Eskenazi-Betech R., De la Fuente-Batta I., et al. | 2025 | American Journal of Ophthalmology Case Reports | Scopus-id: 2-s2.0-105002236055
| 0 | 0 |
| 7 | Clinical and genetic analysis of the first Mexican patient with a diagnosis of pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome | Coautor: Zenteno J.C., Fuentes-Nava A.G., Fierro-Arias L., Apam-Garduño D. | 2024 | CLINICAL AND EXPERIMENTAL DERMATOLOGY | WoS-id: 001139932900001
Scopus-id: 2-s2.0-85188580645
| 1 | 1 |
| 8 | Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome | Coautor: Zenteno J.C., Mora-Roldan G.A., Nava J., Gazarian K. | 2024 | STEM CELL RESEARCH | WoS-id: 001163876000001
Scopus-id: 2-s2.0-85182568837
| 0 | 0 |
| 9 | Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes | 1ᵉʳ autor: Zenteno J.C., Chacón-Camacho O.F., Ordoñez-Labastida V., Miranda-Duarte A., et al. | 2024 | BIOMED RESEARCH INTERNATIONAL | WoS-id: 001169886900012
Scopus-id: 2-s2.0-85183081791
| 1 | 0 |
| 10 | Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis | 2ᵒ autor: Zenteno, JC, Villarroel, CE, Barragán-Arévalo, T, Leal-Anaya, P, et al. | 2024 | REPRODUCTIVE SCIENCES | WoS-id: 001177015000002
Scopus-id: 2-s2.0-85186950928
| 0 | 0 |
| 11 | Mutational Profile and Retinal Phenotypes of PCARE -Related Cone-Rod Dystrophies in a Mexican Cohort | Coautor: Zenteno J.C., López-Rodríguez V.R., Arce-González R., Martínez-Aguilar A., et al. | 2024 | JOURNAL OF OPHTHALMOLOGY | WoS-id: 001186131800001
Scopus-id: 2-s2.0-85188158144
| 0 | 0 |
| 12 | Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome | Coautor: Zenteno, JC, Ruiz-Chavolla, D, Barragán-Arévalo, T, Cortes-Muñoz, D, et al. | 2024 | OPHTHALMIC GENETICS | WoS-id: 001190597400001
Scopus-id: 2-s2.0-85189561602
| 3 | 3 |
| 13 | TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families | Coautor: Zenteno J.C., Chacon-Camacho O.F., Ordaz-Robles T., Cid-García M.A., et al. | 2024 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 001240665700001
Scopus-id: 2-s2.0-85195570434
| 0 | 0 |
| 14 | Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene | Coautor: Zenteno, JC, López-Rodríguez, VRD, Arce-González, R, Navas-Pérez, A, et al. | 2024 | OPHTHALMIC GENETICS | WoS-id: 001262545300001
Scopus-id: 2-s2.0-85197391977
| 0 | 0 |
| 15 | Genetic Aspects of Glaucoma: An Updated Review | Coautor: Zenteno J.C., Chacon-Camacho O.F., Arce-Gonzalez R., Sánchez-De la Rosa F., et al. | 2024 | CURRENT MOLECULAR MEDICINE | WoS-id: 001291604500010
Scopus-id: 2-s2.0-85200681967
| 1 | 1 |
| 16 | Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants | Coautor: Zenteno, JC, Chacon-Camacho, OF, Xilotl-de Jesús, N, Calderon-Martínez, E, et al. | 2024 | MOLECULAR GENETICS AND GENOMICS | WoS-id: 001295045000001
Scopus-id: 2-s2.0-85201580148
| 0 | 0 |
| 17 | Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data-Based Read-Depth Approach | Coautor: Zenteno J.C., Fabian-Morales G.E., Ordoñez-Labastida V., Garcia-Martínez F., et al. | 2024 | Molecular Genetics & Genomic Medicine | WoS-id: 001335446900001
Scopus-id: 2-s2.0-85206280435
| 0 | 0 |
| 18 | A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family | Coautor: Zenteno J.C., Chacon-Camacho O.F., Flores-Lagunes L.L., Small K.W., et al. | 2024 | MOLECULAR VISION | WoS-id: 001412437700001
Scopus-id: 2-s2.0-85216528094
| 0 | 0 |
| 19 | X-LINKED JUVENILE RETINOSCHISIS ASSOCIATED WITH AN RS1 IN-FRAME DELETION AND BILATERAL CENTRAL SEROUS CHORIORETINOPATHY | Coautor: Zenteno J.C., Wheelock-Gutierrez L., Peña-Ortiz S., de Dios-Cuadras U., et al. | 2024 | Retinal Cases and Brief Reports | Scopus-id: 2-s2.0-85209391422
| 0 | 0 |
| 20 | Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes | 1ᵉʳ autor: Zenteno J.C., Arce-Gonzalez R., Matsui R., Lopez-Bolaños A., et al. | 2023 | GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WoS-id: 000840563000003
Scopus-id: 2-s2.0-85135841941
| 5 | 6 |
| 21 | First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations | 2ᵒ autor: Carlos Zenteno, Juan, Roman Corona-Rivera, Jorge, Gildardo Lopez-Perez, Leopoldo, Yokoyama-Rebollar, Emiy, et al. | 2023 | Molecular Syndromology | WoS-id: 000900501700001
Scopus-id: 2-s2.0-85145289036
| 0 | 0 |
| 22 | Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3-related hypotrichosis with juvenile macular dystrophy | Coautor: Zenteno, Juan Carlos, Leal-Rodriguez, Ricardo, Barragan-Arevalo, Tania, Perez-Torres, Armando, et al. | 2023 | CLINICAL DYSMORPHOLOGY | WoS-id: 000945094800003
Scopus-id: 2-s2.0-85149916988
| 1 | 1 |
| 23 | USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients | Coautor: Zenteno, Juan C., Ordoñez-Labastida V., Chacon-Camacho, Oscar F., Lopez-Rodriguez, Victor R. | 2023 | MOLECULAR VISION | WoS-id: 000989201000001
Scopus-id: 2-s2.0-85160266183
| 5 | 5 |
| 24 | Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population | Coautor: Zenteno, Juan Carlos, Macriz-Romero, Nicole, Vera-Duarte, Guillermo Raul, Guerrero-Becerril, Jesus, et al. | 2023 | INTERNATIONAL OPHTHALMOLOGY | WoS-id: 001041352900001
Scopus-id: 2-s2.0-85166931357
| 1 | 0 |
| 25 | A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G & gt;A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene | Coautor: ZENTENO, JUAN CARLOS, Corona-Rivera, Jorge Roman, Rios-Flores, Izabel Maryalexandra, Pena-Padilla, Christian, et al. | 2023 | Molecular Syndromology | WoS-id: 001053917100001
Scopus-id: 2-s2.0-85170552442
| 0 | 1 |
| 26 | Exogenous CFH Modulates Levels of Pro-Inflammatory Mediators to Prevent Oxidative Damage of Retinal Pigment Epithelial Cells with the At-Risk CFH Y402H Variant | Coautor: Zenteno, Juan C., Velazquez-Soto, Henry, Groman-Lupa, Sergio, Cruz-Aguilar, Marisa, et al. | 2023 | Antioxidants | WoS-id: 001057162100001
Scopus-id: 2-s2.0-85169109593
| 5 | 6 |
| 27 | High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the ?Réunion Paradox? | Coautor: Zenteno, J. C., Chacon-Camacho, O. F., Astiazaran, M. C., Vera-Duarte, G., et al. | 2023 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 001078550800001
Scopus-id: 2-s2.0-85171329264
| 0 | 0 |
| 28 | MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype | 2ᵒ autor: Zenteno, Juan Carlos, Corona-Rivera, Jorge Roman, Ordoñez-Labastida V., Cruz-Cruz, Jessica Paola, et al. | 2023 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 001082192200001
Scopus-id: 2-s2.0-85169618625
| 3 | 3 |
| 29 | Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire | Coautor: Zenteno J.C., Chacón-Camacho Ó.F., Arce-González R., Granillo M.T. | 2023 | BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO | WoS-id: 001104307800002
Scopus-id: 2-s2.0-85177058674
| 0 | 0 |
| 30 | Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females | Coautor: Carlos Zenteno, Juan, Arce-Gonzalez, Rocio, Chacon-Camacho, Oscar F., Navas-Perez, Alejandro, et al. | 2022 | OPHTHALMIC GENETICS | WoS-id: 000724072500001
Scopus-id: 2-s2.0-85120355659
| 1 | 3 |
| 31 | 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? | Coautor: Zenteno, Juan C., Mora-Roldan, German A., Galaviz-Hernandez, Carlos, Hiebert-Froese, Jose, et al. | 2022 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000767144800001
Scopus-id: 2-s2.0-85125993886
| 1 | 1 |
| 32 | Contribution of APOA5, APOC3, CETP, ABCA1 and SIK3 genetic variants to hypertriglyceridemia development in Mexican HIV-patients receiving antiretroviral therapy | Coautor: Zenteno, Juan C., Saul Bautista-Martinez, Jonathan, Antonio Mata-Marin, Jose, Luis Sandoval-Ramirez, Jorge, et al. | 2022 | PHARMACOGENETICS AND GENOMICS | WoS-id: 000776193000004
Scopus-id: 2-s2.0-85128159911
| 2 | 2 |
| 33 | Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant | Coautor: Zenteno, Juan C., Irusteta, Leire, Ramirez-Miranda, Arturo, Navas-Perez, Alejandro, et al. | 2022 | OPHTHALMIC GENETICS | WoS-id: 000788320400001
Scopus-id: 2-s2.0-85130022718
| 0 | 0 |
| 34 | Familial Hypercholesterolemia: Update and Review | Coautor: Zenteno J.C., Chacón-Camacho O.F., Pozo-Molina, Glustein, Méndez-Catalá C.F., et al. | 2022 | ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS | WoS-id: 000808545100002
Scopus-id: 2-s2.0-85127437521
| 3 | 6 |
| 35 | Clinical and molecular findings of intermediate allele carriers in the HTT gene from the Mexican Mestizo population | Coautor: Zenteno, Juan Carlos, Ramirez-Garcia, Miguel angel, de Montellano, David Jose Dvila-Ortiz, Martinez-Ruano, Leticia, et al. | 2022 | NEURODEGENERATIVE DISEASES | WoS-id: 000839277700001
Scopus-id: 2-s2.0-85142400491
| 3 | 3 |
| 36 | Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1 | Coautor: Zenteno, J. C., Villafuerte-De la Cruz, R., Chacon-Camacho, O. F., Rodriguez-Martinez, A. C., et al. | 2022 | Frontiers in Genetics | WoS-id: 000848345700001
Scopus-id: 2-s2.0-85137831497
| 2 | 3 |
| 37 | Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration | Coautor: ZENTENO, JUAN CARLOS, Kumari, Asha, Ayala-Ramirez, Raul, Huffman, Kristyn, et al. | 2022 | SCIENTIFIC REPORTS | WoS-id: 000852426200027
Scopus-id: 2-s2.0-85138128885
| 11 | 12 |
| 38 | Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease | Coautor: Zenteno, Juan C., Campos-Garcia, Felix-Julian, Castillo-Espinola, Addy-Manuela, Medina-Escobedo, Carolina-Elizabeth, et al. | 2022 | Cardiogenetics | WoS-id: 000858158800001
| 1 | 0 |
| 39 | Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases | Coautor: Zenteno J.C., Ordoñez-Labastida V., Montes-Almanza L., García-Martínez F. | 2022 | REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION | WoS-id: 001260859100006
Scopus-id: 2-s2.0-85138128864
| 1 | 1 |
| 40 | NEXT-GENERATION SEQUENCING IDENTIFIES A HOMOZYGOUS NONSENSE P.TYR370*MUTATION OF THE TMC6 GENE IN A MEXICAN PEDIGREE WITH EPIDERMODYSPLASIA VERRUCIFORMIS | Coautor: Zenteno, Juan C., Lopez-Ramirez, Samantha, Santillan-Hernandez, Yuritzi, Carrasco-Gerard, Eugenio, et al. | 2021 | REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION | WoS-id: 000662714800001
| 2 | 0 |
| 41 | Aicardi syndrome: A case report. Beyond ophthalmology | Coautor: Zenteno-Ruiz J.C., Kim H.J., Lozano-Garza R.I., De Dios-Cuadras U., et al. | 2021 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-85110014914
| 0 | 0 |
| 42 | Point mutation in the TGFBI gene: surface-enhanced infrared absorption spectroscopy (SEIRAS) as an analytical method | Coautor: Zenteno, J. C., Rosas-Vara, D., Molina-Contreras, J. R., Villalobos-Pina, F., et al. | 2020 | Chemical Papers | WoS-id: 000489432900003
Scopus-id: 2-s2.0-85074175242
| 4 | 3 |
| 43 | Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing | 1ᵉʳ autor: Zenteno, Juan C., Garcia-Montano, Leopoldo A., Cruz-Aguilar, Marisa, Ronquillo, Josue, et al. | 2020 | Molecular Genetics & Genomic Medicine | WoS-id: 000496700500001
Scopus-id: 2-s2.0-85075483861
| 33 | 33 |
| 44 | Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation | 2ᵒ autor: Zenteno, Juan C., Acosta-Fernandez, Elizabeth, Chacon-Camacho, Oscar F., Pena-Padilla, Christian, et al. | 2020 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000527011800029
Scopus-id: 2-s2.0-85079037479
| 6 | 7 |
| 45 | Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome | Coautor: Zenteno J.C., Chacon-Camacho, Oscar F., Barragan-Arevalo, Tania, Villarroel, Camilo E., et al. | 2020 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 000529913000011
Scopus-id: 2-s2.0-85079070554
| 7 | 9 |
| 46 | 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 | Coautor: Zenteno J.C., Cabral-Macias J., Garcia-Montaño L.A., Pérezpeña-Díazconti M., et al. | 2020 | MOLECULAR VISION | WoS-id: 000531576700001
Scopus-id: 2-s2.0-85084276425
| 9 | 12 |
| 47 | Single cell RNA sequencing of retinal immune cells identifies activation of resident retinal microglia associated with subretinal pseudodrusen-like deposits | Coautor: Carlos Zenteno, Juan, Kumari, Asha, Ayala, Raul, Roman, Sasik, et al. | 2020 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | WoS-id: 000554528300026
| 0 | 0 |
| 48 | Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches | Coautor: Zenteno J.C., Martínez-Velasco A., Perez-Ortiz A.C., Antonio-Aguirre B., et al. | 2020 | OPHTHALMIC GENETICS | WoS-id: 000562227800001
Scopus-id: 2-s2.0-85089785213
| 2 | 2 |
| 49 | Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene | Coautor: Zenteno Ruiz J.C., Ortiz-Ramirez G.Y., Villanueva-Mendoza C., Reyes M., et al. | 2020 | OPHTHALMIC GENETICS | WoS-id: 000562991600001
Scopus-id: 2-s2.0-85089857682
| 2 | 2 |
| 50 | Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability | Coautor: Zenteno J.C., Chacon-Camacho, Oscar F., Arce-Gonzalez, Rocio, Ordaz-Robles, Thania, et al. | 2020 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000567409100001
Scopus-id: 2-s2.0-85090445217
| 7 | 8 |
| 51 | Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease | Coautor: Carlos Zenteno, Juan, Barreda Fierro, Renee, Herrera Mora, Patricia, Villarroel Cortes, Camilo E. | 2020 | NEUROMUSCULAR DISORDERS | WoS-id: 000598364000005
Scopus-id: 2-s2.0-85095947060
| 9 | 9 |
| 52 | Competition/antagonism associations of biofilm formation among Staphylococcus epidermidis Agr groups I, II, and III | Coautor: Zenteno J.C., Martínez-García S., Ortiz-García C.I., Cruz-Aguilar M., et al. | 2019 | JOURNAL OF MICROBIOLOGY | WoS-id: 000457417200009
Scopus-id: 2-s2.0-85060830886
| 8 | 9 |
| 53 | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies | Coautor: Zenteno J.C., Chacon-Camacho, Oscar F., Lopez-Moreno, Daniel, Morales-Sanchez, Martha A., et al. | 2019 | Molecular Genetics & Genomic Medicine | WoS-id: 000468084200022
Scopus-id: 2-s2.0-85065408765
| 40 | 40 |
| 54 | Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy | Coautor: Zenteno, Juan C., Chekuri, Anil, Sahu, Bhubanananda, Chavali, Venkata Ramana Murthy, et al. | 2019 | HUMAN GENE THERAPY | WoS-id: 000468183500008
Scopus-id: 2-s2.0-85065927777
| 12 | 12 |
| 55 | Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies | Coautor: Zenteno J.C., Kheir V., Cortés-González V., Schorderet D.F. | 2019 | HUMAN MUTATION | WoS-id: 000468625200002
Scopus-id: 2-s2.0-85063644847
| 30 | 33 |
| 56 | 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 | Coautor: Zenteno J.C., Chacon-Camacho, Oscar F., Salgado-Medina, Acatzin, Alcaraz-Lares, Nayeli, et al. | 2019 | Gene | WoS-id: 000472241500008
Scopus-id: 2-s2.0-85065077602
| 6 | 9 |
| 57 | Differential Expression of the apsXRS System by Antimicrobial Peptide LL-37 in Commensal and Clinical Staphylococcus epidermidis Isolates | Coautor: Zenteno J.C., Martínez-García S., Chávez-Cabrera C., Quintana E.T., et al. | 2019 | INDIAN JOURNAL OF MICROBIOLOGY | WoS-id: 000476782300005
Scopus-id: 2-s2.0-85064243074
| 4 | 5 |
| 58 | Mutación de novo recurrente en el gen ATP1A3 en una paciente mexicana con hemiplejia alternante de la infancia detectada por secuenciación masiva en paralelo | Coautor: Zenteno, Juan C., Galaz-Montoya, I, Carolina, Alcaraz-Estrada, Sofia, Garcia-Montano, Leopoldo A., et al. | 2019 | BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO | WoS-id: 000477983300006
Scopus-id: 2-s2.0-85060139810
| 3 | 3 |
| 59 | Panel-based next generation sequencing reveals extensive locus and allelic heterogeneity underlying inherited retinal degenerations in Mexican population | 1ᵉʳ autor: Carlos Zenteno, Juan, Garcia-Montano, Leopoldo, Cruz-Aguilar, Marisa, Matsui-Serrano, Rodrigo, et al. | 2019 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | WoS-id: 000488628107094
| 0 | 0 |
| 60 | Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis | Coautor: Zenteno, Juan C., Cordoba, Andrea, Graue-Hernandez, Enrique O., Navas, Alejandro, et al. | 2019 | American Journal of Case Reports | WoS-id: 000492862000001
Scopus-id: 2-s2.0-85074069691
| 1 | 4 |
| 61 | The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome | Coautor: Zenteno, Juan C., Berner, Daniel, Hoja, Ursula, Zenkel, Matthias, et al. | 2019 | HUMAN MOLECULAR GENETICS | WoS-id: 000493061600006
Scopus-id: 2-s2.0-85073241138
| 23 | 23 |
| 62 | Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico | Coautor: Zenteno, Juan C., Campos-Garcia F.-J., Chacon-Camacho, Oscar F., Contreras-Capetillo, Silvina, et al. | 2019 | Molecular Genetics and Metabolism Reports | WoS-id: 000500718300023
Scopus-id: 2-s2.0-85074752440
| 8 | 9 |
| 63 | WHOLE SEQUENCING OF THE MITOCHONDRIAL GENOME OF BREAST CANCER TISSUE IN MEXICAN-MESTIZO POSTMENOPAUSAL WOMEN WITH DIFFERENT BODY MASS INDEX | Coautor: Zenteno, Juan C., Adams-Reyes, Nishi, Coral-Vazquez, Ramon M., Mendez, Juan P., et al. | 2019 | REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION | WoS-id: 000505684200003
Scopus-id: 2-s2.0-85071492631
| 0 | 0 |
| 64 | The Relevance of Cataract as a Risk Factor for Age-Related Macular Degeneration: A Machine Learning Approach | Coautor: Zenteno, Juan C., Martinez-Velasco, Antonieta, Martinez-Villasenor, Lourdes, Miralles-Pechuan, Luis, et al. | 2019 | APPLIED SCIENCES-BASEL | WoS-id: 000518042000285
Scopus-id: 2-s2.0-85077305624
| 1 | 1 |
| 65 | Catarata congénita bilateral: Ambliopía por deprivación y su relación con el desarrollo | Coautor: Zenteno-Ruíz J.C., Uribe-Campos L., Arroyo-Muñoz L., Mandujano-Valdés M., et al. | 2019 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-85111703289
| 0 | 0 |
| 66 | Retinal phenotypic characterization of patients with ABCA4 retinopathy due to the homozygous p.Ala1773Val mutation | Coautor: Zenteno J.C., López-Rubio S., Chacon-Camacho O.F., Matsui R., et al. | 2018 | MOLECULAR VISION | WoS-id: 000424814600001
Scopus-id: 2-s2.0-85041385490
| 9 | 9 |
| 67 | Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome | Coautor: Zenteno, Juan C., Zuazo, Francisca, Astiazaran, Mirena C., Rodriguez-Cabrera, Lourdes, et al. | 2018 | OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY | WoS-id: 000427817000012
Scopus-id: 2-s2.0-85050674629
| 4 | 5 |
| 68 | ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION | Coautor: Zenteno J.C., Quiroz-Casian N., Lozano-Giral D., Miranda-Duarte A., et al. | 2018 | RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES | WoS-id: 000428734800027
Scopus-id: 2-s2.0-85009950394
| 4 | 3 |
| 69 | Duplication of SOX9 associated with 46, XX ovotesticular disorder of sex development | Coautor: Zenteno J.C., López-Hernández B., Méndez J.P., Coral-Vázquez R.M., et al. | 2018 | REPRODUCTIVE BIOMEDICINE ONLINE | WoS-id: 000434476500014
Scopus-id: 2-s2.0-85045427304
| 11 | 15 |
| 70 | Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature | Coautor: Zenteno J.C., Quiroz-Casian N., Chacon-Camacho O.F., Barragan-Arevalo T., et al. | 2018 | Cornea | WoS-id: 000443952300020
Scopus-id: 2-s2.0-85052579022
| 14 | 13 |
| 71 | Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing | Coautor: Zenteno, Juan C., Matias-Perez, Diana, Garcia-Montano, Leopoldo A., Cruz-Aguilar, Marisa, et al. | 2018 | JOURNAL OF HUMAN GENETICS | WoS-id: 000448318700008
Scopus-id: 2-s2.0-85053417936
| 19 | 19 |
| 72 | Significant association between variant in sgcd and age-related macular degeneration | Coautor: Zenteno J.C., Perez-Ortiz A.C., Luna-Angulo A., Rendon A., et al. | 2018 | GENES | WoS-id: 000448656700005
Scopus-id: 2-s2.0-85054883682
| 4 | 4 |
| 73 | Centromere-associated protein E expresses a novel mRNA isoform in acute lymphoblastic leukemia | Coautor: Zenteno, Juan C., Jimenez-Avila, Cindy E., Villegas-Ruiz, Vanessa, Zapata-Tarres, Marta, et al. | 2018 | International Journal of Molecular Epidemiology and Genetics | WoS-id: 000449839700001
| 5 | 0 |
| 74 | Bilateral Congenital Cataract: Deprivation Amblyopia and its relation to development | Coautor: Zenteno-Ruíz J.C., Uribe-Campos L., Arroyo-Muñoz L., Mandujano-Valdés M., et al. | 2018 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-85053524290
| 0 | 1 |
| 75 | Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated with the p.(Arg555Trp) Mutation in TGFBI | Coautor: Carlos Zenteno, Juan, Kattan, Jaffer M., Carlos Serna-Ojeda, Juan, Sharma, Anushree, et al. | 2017 | Cornea | WoS-id: 000392287100017
Scopus-id: 2-s2.0-85009959813
| 5 | 7 |
| 76 | 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 | Coautor: Zenteno, Juan C., Pantoja-Melendez, Carlos A., Miranda-Duarte, Antonio, Roque-Ramirez, Bladimir | 2017 | PLOS ONE | WoS-id: 000392381100050
Scopus-id: 2-s2.0-85010075922
| 20 | 20 |
| 77 | The 95 G mutation in the 5'untranslated region of the norA gene increases efflux activity in Staphylococcus epidermidis isolates | Coautor: Zenteno, Juan C., Garcia-Gomez, Elizabeth, Jaso-Vera, Marcos E., Juarez-Verdayes, Marco A., et al. | 2017 | MICROBIAL PATHOGENESIS | WoS-id: 000393348600019
Scopus-id: 2-s2.0-85007425342
| 2 | 2 |
| 78 | Genome-wide mRNA analysis reveals a TUBD1 isoform profile as a potential biomarker for diabetic retinopathy development | Coautor: Zenteno, Juan C., Villegas-Ruiz, Vanessa, Hendlmeier, Ferdinand, Buentello-Volante, Beatriz, et al. | 2017 | EXPERIMENTAL EYE RESEARCH | WoS-id: 000398017000011
Scopus-id: 2-s2.0-85013226595
| 10 | 12 |
| 79 | Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature | Coautor: Zenteno, Juan C., Chacon-Camacho, Oscar F., Zenker, Martin, Schanze, Denny, et al. | 2017 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 000398068600009
Scopus-id: 2-s2.0-85010202463
| 14 | 15 |
| 80 | Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD) | Coautor: Zenteno, Juan C., Cruz-Aguilar, Marisa, Guerrero-de Ferran, Caroline, Luis Tovilla-Canales, Jose, et al. | 2017 | JOURNAL OF INVESTIGATIVE MEDICINE | WoS-id: 000399374600007
Scopus-id: 2-s2.0-85014728105
| 7 | 9 |
| 81 | Gene therapy for vision restoration in patients with Leber congenital amaurosis (LCA) due to RPE65 gene mutations: beginning the phase IV trial | 2ᵒ autor y autor de correspondencia: Carlos Zenteno, Juan, Francisco Chacon-Camacho, Oscar | 2017 | GACETA MEDICA DE MEXICO | WoS-id: 000400671500017
Scopus-id: 2-s2.0-85020484186
| 2 | 2 |
| 82 | A Nonsense ALMS1 Mutation Underlies Alstrom Syndrome in an Extended Mennonite Kindred Settled in North Mexico | Coautor: Carlos Zenteno, Juan, Cruz-Aguilar, Marisa, Galaviz-Hernandez, Carlos, Hiebert-Froese, Jose, et al. | 2017 | GENETIC TESTING AND MOLECULAR BIOMARKERS | WoS-id: 000403058900008
Scopus-id: 2-s2.0-85020412264
| 4 | 4 |
| 83 | Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci | Coautor: Zenteno, Juan C., Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, et al. | 2017 | NATURE GENETICS | WoS-id: 000404253300007
Scopus-id: 2-s2.0-85021706287
| 107 | 120 |
| 84 | Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome | Coautor: Zenteno J.C., Astiazarán M.C., Cervantes-Sodi M., Rebolledo-Enríquez E., et al. | 2017 | GENETIC TESTING AND MOLECULAR BIOMARKERS | WoS-id: 000416432700001
Scopus-id: 2-s2.0-85038599359
| 9 | 10 |
| 85 | PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants | Coautor: Zenteno J.C., Pérez-Solórzano S., Chacón-Camacho O.F., Astiazarán M.C., et al. | 2017 | CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WoS-id: 000418661600005
Scopus-id: 2-s2.0-85020721272
| 5 | 5 |
| 86 | The clinical implications of molecular monitoring and analyses of inherited retinal diseases | Coautor y autor de correspondencia: Zenteno, Juan C., Chacon-Camacho, Oscar F., Garcia-Montano, Leopoldo A. | 2017 | EXPERT REVIEW OF MOLECULAR DIAGNOSTICS | WoS-id: 000422752100007
Scopus-id: 2-s2.0-85031429540
| 5 | 9 |
| 87 | CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of von Hippel | Coautor: Zenteno J.C., Oliva-Biénzobas V., Navas A., Astiazarán M.C., et al. | 2017 | Cornea | WoS-id: 000423103300024
Scopus-id: 2-s2.0-85021166336
| 2 | 2 |
| 88 | CFH and HTRA1 genes associated with AMD in Mexican population | Coautor: Carlos Zenteno, Juan, Martinez-Velasco, Antonieta, Christopher Perez-Ortiz, Andric, Berenice Luna-Angulo, Alexa, et al. | 2017 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | WoS-id: 000432170306014
| 2 | 0 |
| 89 | Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis | Coautor: Zenteno, J.C., Montecinos-Contreras, C., Sepúlveda-Vázquez, H.E., Pelcastre-Luna, E., et al. | 2017 | Archivos de la Sociedad Espanola de Oftalmologia | Scopus-id: 2-s2.0-85008957386
| 0 | 1 |
| 90 | Genes relacionados con microftalmia y anoftalmia hereditarias | Coautor y autor de correspondencia: Zenteno J.C., Matías-Pérez D., García-Montalvo I.A. | 2017 | GACETA MEDICA DE MEXICO | Scopus-id: 2-s2.0-85060904660
| 0 | 1 |
| 91 | Genes related to inherited microphthalmia and anophthalmia | Coautor y autor de correspondencia: Zenteno J.C., Matías-Pérez D., García-Montalvo I.A. | 2017 | GACETA MEDICA DE MEXICO | Scopus-id: 2-s2.0-85160648525
| 0 | 1 |
| 92 | A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy | Coautor: Carlos Zenteno, Juan, Eduardo Pina-Aguilar, Raul, Angel Regalado-Hernandez, Miguel, Daniel Moreno-Garcia, Jesus, et al. | 2016 | SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE | WoS-id: 000371929400007
Scopus-id: 2-s2.0-84960475009
| 1 | 1 |
| 93 | Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma | Coautor: Zenteno, Juan C., Khor, Chiea Chuen, Do, Tan, Jia, Hongyan, et al. | 2016 | NATURE GENETICS | WoS-id: 000374834100016
Scopus-id: 2-s2.0-84963502585
| 128 | 148 |
| 94 | Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation | 2ᵒ autor: Zenteno, Juan C., Cabral-Macias, Jesus, Ramirez-Miranda, Arturo, Navas, Alejandro, et al. | 2016 | Cornea | WoS-id: 000379614000015
Scopus-id: 2-s2.0-84965007031
| 2 | 5 |
| 95 | TP63 Mutation in a Patient with Acro-Dermo-Ungual-Lacrimal-Tooth Syndrome: Additional Evidence of Molecular Overlap of the ADULT and EEC Syndromes | Coautor y autor de correspondencia: Carlos Zenteno, Juan, Francisco Chacon-Camacho, Oscar, Irene Fuerte-Flores, Bertha | 2016 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000379946300038
Scopus-id: 2-s2.0-84962799371
| 3 | 3 |
| 96 | Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome | Coautor: Zenteno, Juan C., Chacon-Camacho, Oscar F., Sobreira, Nara, You, Jing, et al. | 2016 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000379948000036
Scopus-id: 2-s2.0-84975138730
| 3 | 3 |
| 97 | Tietz/Waardenburg Type 2A Syndrome Associated with Posterior Microphthalmos in Two Unrelated Patients with Novel MITF Gene Mutations | 2ᵒ autor: Carlos Zenteno, Juan, Cortes-Gonzalez, Vianney, Guzman-Sanchez, Martin, Giordano-Herrera, Veronica, et al. | 2016 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000388199100037
Scopus-id: 2-s2.0-84995776204
| 11 | 10 |
| 98 | Machine learning method to establish the connection between age related macular degeneration and some genetic variations | 2ᵒ autor: Zenteno, J.C., Martínez-Velasco, A., Martínez-Villaseñor, L., Miralles-Pechúan, L., et al. | 2016 | Lecture Notes in Computer Science | WoS-id: 000389507400004
Scopus-id: 2-s2.0-85009789286
| 1 | 1 |
| 99 | The PTPN22 R620W polymorphism in anti-neutrophil cytoplasmic antibody-associated vasculitis in Mexican Mestizos | 1ᵉʳ autor: Carlos Zenteno, Juan, Correa-Gomez, Vicente, Pompa-Mera, Ericka N., Lima, Guadalupe, et al. | 2016 | Rheumatology | WoS-id: 000393316300021
Scopus-id: 2-s2.0-85019889771
| 3 | 3 |
| 100 | CLINICAL AND GENETIC FINDINGS IN MEXICAN PATIENTS WITH DUANE ANOMALY AND RADIAL RAY MALFORMATIONS/OKIHIRO SYNDROME | Coautor: Carlos Zenteno, Juan, Chacon-Camacho, Oscar F., Cabral-Macias, Jesus, Ayala-Ramirez, Raul, et al. | 2016 | REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION | WoS-id: 000393357100007
Scopus-id: 2-s2.0-85024401573
| 2 | 2 |
| 101 | Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence | Coautor: Zenteno J.C., Chacon-Camacho O.F., Villegas-Ruiz V., Buentello-Volante B., et al. | 2015 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000348843600005
Scopus-id: 2-s2.0-84921329902
| 3 | 5 |
| 102 | Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration | Coautor: Zenteno J.C., Morales-Briceño H., Chacón-Camacho O.F., Pérez-González E.A., et al. | 2015 | CLINICAL GENETICS | WoS-id: 000350052000008
Scopus-id: 2-s2.0-84922760322
| 14 | 14 |
| 103 | A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome | Coautor: Zenteno, JC, Abu Safieh, L, AbuAmero, KK, AbuAmero, KK, et al. | 2015 | NATURE GENETICS | WoS-id: 000351922900015
Scopus-id: 2-s2.0-84941616197
| 85 | 105 |
| 104 | Submicroscopic deletions at 13q32.1 cause congenital microcoria | Coautor: Zenteno J.C., Fares-Taie L., Gerber S., Tawara A., et al. | 2015 | AMERICAN JOURNAL OF HUMAN GENETICS | WoS-id: 000352212600010
Scopus-id: 2-s2.0-84926249605
| 14 | 15 |
| 105 | Erratum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (Nature Genetics (2015) 47 (387-392)) | Coautor: Zenteno J.C., Aung T., Ozaki M., Mizoguchi T., et al. | 2015 | NATURE GENETICS | WoS-id: 000355386500026
Scopus-id: 2-s2.0-84930069466
| 1 | 1 |
| 106 | Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients | Coautor: Zenteno J.C., Blanco-Aguirre M.E., RiveraDe la Parra, D, Tapia-Garcia H., et al. | 2015 | Gene | WoS-id: 000355711500010
Scopus-id: 2-s2.0-84929273859
| 14 | 13 |
| 107 | Corrigendum to "Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients" | Coautor: Zenteno J.C., Blanco-Aguirre M.E., Rivera-De la Parra D., Tapia-Garcia H., et al. | 2015 | Gene | WoS-id: 000357229400018
Scopus-id: 2-s2.0-84930823357
| 0 | 0 |
| 108 | Erratum to: Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity | 1ᵉʳ autor: Zenteno J.C., Crespí J., Buentello-Volante B., Buil J.A., et al. | 2015 | GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WoS-id: 000358736700033
Scopus-id: 2-s2.0-84938413925
| 0 | 0 |
| 109 | Molecular and phenotypic characterization of staphylococcus epidermidis isolates from healthy conjunctiva and a comparative analysis with isolates from ocular infection | 2ᵒ autor: Zenteno J.C., Flores-Páez L.A., Alcántar-Curiel M.D., Vargas-Mendoza C.F., et al. | 2015 | PLOS ONE | WoS-id: 000359493600138
Scopus-id: 2-s2.0-84942881331
| 28 | 28 |
| 110 | Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism | 2ᵒ autor: Zenteno J.C., Mendez, JP, Coronel A., Soriano-Ursúa M.A., et al. | 2015 | ENDOCRINE RESEARCH | WoS-id: 000359858500009
Scopus-id: 2-s2.0-84936945001
| 6 | 7 |
| 111 | Gene therapy for hereditary ophthalmological diseases: Advances and perspectives | Coautor y autor de correspondencia: Zenteno J.C., Chacón-Camacho Ó.F., Astorga-Carballo A. | 2015 | GACETA MEDICA DE MEXICO | WoS-id: 000361188100011
Scopus-id: 2-s2.0-84942777317
| 2 | 2 |
| 112 | Identification of RB1 gene germline mutations in Mexican patients with sporadic unilateral retinoblastoma | 2ᵒ autor: Zenteno, JC, Vallejo, DCG, Cuevas, AF | 2015 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | WoS-id: 000362882200071
| 0 | 0 |
| 113 | Genetic association of polymorphisms in the p53 and LTA genes with proliferative vitreoretinopathy after retinal detachment surgery in Mexican population | Coautor: Zenteno, JC, Casian, NPQ, Rodriguez, JL, LopezRubio, S, et al. | 2015 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | WoS-id: 000362882201163
| 0 | 0 |
| 114 | SOX2 anophthalmia syndrome and dental anomalies | Coautor: Zenteno J.C., Chacon-Camacho O.F., Fuerte-Flores B.I., Ricardez-Marcial E.F. | 2015 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000363281900055
Scopus-id: 2-s2.0-84945484493
| 7 | 7 |
| 115 | Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia | Coautor: Zenteno J.C., Villegas-Ruiz V., Campos-Garcia F.J., Contreras-Capetillo S., et al. | 2015 | CLINICAL BIOCHEMISTRY | WoS-id: 000367364800013
Scopus-id: 2-s2.0-84949088441
| 3 | 4 |
| 116 | Review and update on the molecular basis of Leber congenital amaurosis | 2ᵒ autor y autor de correspondencia: Carlos Zenteno, Juan, Francisco Chacon-Camacho, Oscar | 2015 | World Journal Of Clinical Cases | WoS-id: 000417235400003
| 96 | 0 |
| 117 | Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings | Coautor: Zenteno J.C., Chacon-Camacho O.F., Buentello-Volante B., Velázquez-Montoya R., et al. | 2014 | Gene | WoS-id: 000330013500012
Scopus-id: 2-s2.0-84890438030
| 4 | 5 |
| 118 | Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to harboyan syndrome | 2ᵒ autor: Zenteno J.C., Siddiqui S., Rice A., Chacón-Camacho O., et al. | 2014 | Cornea | WoS-id: 000331530700007
Scopus-id: 2-s2.0-84894060050
| 39 | 45 |
| 119 | Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements | Coautor: Zenteno J.C., Wang F., Wang H., Tuan, HF, et al. | 2014 | HUMAN GENETICS | WoS-id: 000331622700008
Scopus-id: 2-s2.0-84894431411
| 197 | 216 |
| 120 | CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans | 2ᵒ autor: Zenteno J.C., Contreras A.V., Fernández-López J.C., Rodríguez-Corona U., et al. | 2014 | MOLECULAR VISION | WoS-id: 000331825400001
Scopus-id: 2-s2.0-84892379734
| 19 | 22 |
| 121 | TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies | Coautor: Zenteno J.C., Gonzalez-Rodriguez J., Ramirez-Miranda A., Hernandez-Da Mota S.E. | 2014 | GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WoS-id: 000339829900011
Scopus-id: 2-s2.0-84908356564
| 14 | 14 |
| 122 | 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 | Coautor: Zenteno J.C., Garcia-Montalvo I.A., Pelcastre-Luna E., Nelson-Mora J., et al. | 2014 | OPHTHALMIC GENETICS | WoS-id: 000340473500012
Scopus-id: 2-s2.0-84905818061
| 9 | 12 |
| 123 | Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism | Coautor: Zenteno J.C., Sepúlveda-Vázquez H.E., Villanueva-Mendoza C., Villegas-Ruiz V., et al. | 2014 | INTERNATIONAL OPHTHALMOLOGY | WoS-id: 000341838700008
Scopus-id: 2-s2.0-84893638759
| 5 | 6 |
| 124 | Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity | 1ᵉʳ autor: Zenteno J.C., Crespí J., Buentello-Volante B., Buil J.A., et al. | 2014 | GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WoS-id: 000344631900013
Scopus-id: 2-s2.0-84920903757
| 30 | 36 |
| 125 | Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings | Coautor: Zenteno J.C., Valdes-Flores M., Hidalgo-Bravo A., Casas-Avila L., et al. | 2014 | INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE | WoS-id: 000348302100010
Scopus-id: 2-s2.0-84918586928
| 12 | 14 |
| 126 | Prenatal exclusion of von Hippel-Lindau syndrome in a Mexican family carrying a novel VHL gene mutation | Coautor y autor de correspondencia: Zenteno J.C., Chacón-Camacho O.F., Benitez-Granados J. | 2014 | Ginecología Y Obstetricia De México | Scopus-id: 2-s2.0-84900394141
| 0 | 0 |
| 127 | Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome | Coautor: Zenteno J.C., Chacon-Camacho O.F., Arce-Gonzalez R., Villegas-Ruiz V., et al. | 2014 | Meta Gene | Scopus-id: 2-s2.0-84901746059
| 0 | 4 |
| 128 | Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population | Coautor: Zenteno J.C., Vázquez-Martínez E.R., Varela-Fascinetto G., García-Delgado C., et al. | 2014 | Meta Gene | Scopus-id: 2-s2.0-84901783329
| 0 | 9 |
| 129 | Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population | Coautor: Zenteno J.C., Buentello-Volante B., Elizondo-Olascoaga C., Miranda-Duarte A., et al. | 2013 | EXPERIMENTAL EYE RESEARCH | WoS-id: 000314385200008
Scopus-id: 2-s2.0-84871641163
| 19 | 20 |
| 130 | The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss | Coautor: Zenteno J.C., Estrada H., Buentello B., Fiszman R., et al. | 2013 | PRENATAL DIAGNOSIS | WoS-id: 000315650600001
Scopus-id: 2-s2.0-84874533888
| 19 | 19 |
| 131 | ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation | Coautor: Zenteno J.C., Chacón-Camacho O.F., Granillo-Alvarez M., Ayala-Ramírez R. | 2013 | EXPERIMENTAL EYE RESEARCH | WoS-id: 000317165100010
Scopus-id: 2-s2.0-84875246289
| 37 | 39 |
| 132 | Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity | Coautor: Zenteno J.C., Rivera-De la Parra D., Cabral-Macias J., Matias-Florentino M., et al. | 2013 | Gene | WoS-id: 000317374300026
Scopus-id: 2-s2.0-84875382710
| 12 | 13 |
| 133 | Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Negative for SOX2 Mutation | 2ᵒ autor: Zenteno J.C., Corona-Rivera J.R., Pelcastre-Luna E., Miguel-Jiménez K., et al. | 2013 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000320648800044
Scopus-id: 2-s2.0-84876795759
| 0 | 0 |
| 134 | Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case | Coautor: Zenteno J.C., Chacon-Camacho O.F., Lopez-Martinez M.S., Vázquez J., et al. | 2013 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000320649700037
Scopus-id: 2-s2.0-84878240479
| 6 | 7 |
| 135 | An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village | Coautor y autor de correspondencia: Zenteno J.C., Pantoja-Melendez C., Ali M. | 2013 | MOLECULAR VISION | WoS-id: 000323890500002
Scopus-id: 2-s2.0-84883340104
| 8 | 8 |
| 136 | Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa | Coautor: Zenteno J.C., Chacon-Camacho O.F., Jitsldi, S, Buentello-Volante B., et al. | 2013 | Gene | WoS-id: 000324565600015
Scopus-id: 2-s2.0-84883050639
| 15 | 15 |
| 137 | The T allele of lysyl oxidase-like 1 rs41435250 is a novel risk factor for pseudoexfoliation syndrome and pseudoexfoliation glaucoma independently and through intragenic epistatic interaction | Coautor y autor de correspondencia: Zenteno J.C., Guadarrama-Vallejo D., Miranda-Duarte A. | 2013 | MOLECULAR VISION | WoS-id: 000324693400001
Scopus-id: 2-s2.0-84884400273
| 9 | 12 |
| 138 | A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration | Coautor: Zenteno J.C., Pérez-González E.A., Chacón-Camacho O.F., Arteaga-Vázquez J., et al. | 2013 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 000325993600005
Scopus-id: 2-s2.0-84885951519
| 6 | 5 |
| 139 | Staphylococcus epidermidis with the icaA(-)/icaD(-)/IS256(-) genotype and protein or protein/extracellular-DNA biofilm is frequent in ocular infections | Coautor: Zenteno J.C., Juárez-Verdayes M.A., Ramón-Peréz M.L., Flores-Páez L.A., et al. | 2013 | JOURNAL OF MEDICAL MICROBIOLOGY | WoS-id: 000326212700013
Scopus-id: 2-s2.0-84884480593
| 25 | 29 |
| 140 | Expansion of the clinical ocular spectrum of wolfram syndrome in a family carrying a novel WFS1 gene deletion | Coautor: Zenteno J.C., Chacón-Camacho O., Arce-Gonzalez R., Granillo-Alvarez M., et al. | 2013 | OPHTHALMIC GENETICS | WoS-id: 000326969200010
Scopus-id: 2-s2.0-84887901987
| 7 | 7 |
| 141 | Prenatal exclusion syndrome von hippel-lindau in a Mexican family with a new mutation in the VHL gene | Coautor y autor de correspondencia: Zenteno J.C., Chacón-Camacho O.F., Benítez-Granados J. | 2013 | Ginecología Y Obstetricia De México | Scopus-id: 2-s2.0-84876212273
| 0 | 0 |
| 142 | Bases genéticas de las malformaciones oculares congénitas severas | 2ᵒ autor y autor de correspondencia: Zenteno J.C., García-Montalvo I.A. | 2013 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-84875768786
| 0 | 2 |
| 143 | Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III | Coautor: Zenteno J.C., Toral-López J., Córdoba-Cabeza T., Villeda M., et al. | 2013 | Journal Of Pediatric Genetics | Scopus-id: 2-s2.0-85013583010
| 0 | 0 |
| 144 | Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population | Coautor: Zenteno, JC, Jaimes, M, Rivera-Parra, D, Miranda-Duarte, A, et al. | 2012 | OPHTHALMIC GENETICS | WoS-id: 000299294700003
Scopus-id: 2-s2.0-84856104535
| 27 | 33 |
| 145 | An Intellectually Disabled Patient With the 5q14.3q15 Microdeletion Syndrome Associated With an Apparently De Novo t(2;5)(q13;q14) | Coautor: Zenteno, JC, Toral-Lopez, J, Buentello-Volante, B, Balderas-Minor, MM, et al. | 2012 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000302544200041
Scopus-id: 2-s2.0-84858997214
| 7 | 7 |
| 146 | Gene Therapy for Retinitis Pigmentosa Caused by MFRP Mutations: Human Phenotype and Preliminary Proof of Concept | Coautor: Zenteno J.C., Dinculescu A., Estreicher J., Aleman T.S., et al. | 2012 | HUMAN GENE THERAPY | WoS-id: 000303046800006
Scopus-id: 2-s2.0-84860187190
| 33 | 37 |
| 147 | 16S rRNA GENE-BASED IDENTIFICATION OF BACTERIA IN POSTOPERATIVE ENDOPHTHALMITIS BY PCR-DENATURING GRADIENT GEL ELECTROPHORESIS (PCR-DGGE) FINGERPRINTING | Coautor: Zenteno J.C., Navarro-Noya Y., Hernández-Rodríguez C., Buentello-Volante B., et al. | 2012 | BRAZILIAN JOURNAL OF MICROBIOLOGY | WoS-id: 000303939800033
Scopus-id: 2-s2.0-84861409825
| 7 | 7 |
| 148 | Klippel-Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes | Coautor: Zenteno, JC, Chacon-Camacho, O, Camarillo-Blancarte, L, Pelaez-Gonzalez, H, et al. | 2012 | EUROPEAN JOURNAL OF MEDICAL GENETICS | WoS-id: 000307540300005
Scopus-id: 2-s2.0-84862190165
| 13 | 13 |
| 149 | Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-rela | Coautor: Zenteno J.C., Buentello-Volante B., Rodriguez-Ruiz G., Miranda-Duarte A., et al. | 2012 | MOLECULAR VISION | WoS-id: 000309953200002
Scopus-id: 2-s2.0-84868096651
| 19 | 22 |
| 150 | Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature | Coautor: Zenteno, JC, Neri, A, Leaci, R, Casubolo, C, et al. | 2012 | MOLECULAR VISION | WoS-id: 000312226400001
Scopus-id: 2-s2.0-84869214187
| 18 | 20 |
| 151 | OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations | Coautor y autor de correspondencia: Zenteno J.C., Chacon-Camacho O.F., Camarillo-Blancarte L. | 2011 | OPHTHALMIC GENETICS | WoS-id: 000287589900004
Scopus-id: 2-s2.0-79952170673
| 8 | 8 |
| 152 | Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation | Coautor: Zenteno J.C., Jimenez-Martinez M.C., Cruz F., Groman-Lupa S. | 2011 | INTERNATIONAL JOURNAL OF IMMUNOGENETICS | WoS-id: 000290492600006
Scopus-id: 2-s2.0-79956289017
| 15 | 15 |
| 153 | Homozygosity Mapping Identifies the Crumbs Homologue 1 (Crb1) Gene as Responsible for a Recessive Syndrome of Retinitis Pigmentosa and Nanophthalmos | 1ᵉʳ autor: Zenteno J.C., Buentello-Volante B., Ayala-Ramirez R., Villanueva-Mendoza C. | 2011 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000290716700009
Scopus-id: 2-s2.0-79954986202
| 38 | 40 |
| 154 | Expanding the Phenotype of Gingival Fibromatosis-Mental Retardation-Hypertrichosis (Zimmermann-Laband) Syndrome | Coautor y autor de correspondencia: Zenteno, JC, Chacon-Camacho, OF, Vazquez, J | 2011 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000291944700034
Scopus-id: 2-s2.0-79959496245
| 15 | 17 |
| 155 | Mutations in a novel serine protease PRSS56 in families with nanophthalmos | Coautor: Zenteno J.C., Orr A., Dube, MP, Jiang H., et al. | 2011 | MOLECULAR VISION | WoS-id: 000292723900001
Scopus-id: 2-s2.0-79960715123
| 44 | 48 |
| 156 | Dear editor [Estimado Editor] | 2ᵒ autor y autor de correspondencia: Zenteno J.C., Villanueva-Mendoza C. | 2011 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-84856054212
| 0 | 0 |
| 157 | Atipic manifestations of retinoschisis and response to dorzolamide: A case report [Manifestacion atípica de retinosquisis y respuesta al tratamiento con orzolamida; caso clínico] | Coautor: Zenteno-Ruíz J.C., Gutiérrez-Sánchez L., Moreno-Paramo D., Ortega-Larrocea X., et al. | 2011 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-84856070964
| 0 | 3 |
| 158 | Sonic Hedgehog Mutation Analysis in Patients With VACTERL Association | 2ᵒ autor: Zenteno J.C., Aguinaga M., Pérez-Cano H., Morán V. | 2010 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000276155200036
Scopus-id: 2-s2.0-77649217211
| 25 | 28 |
| 159 | Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico | Coautor: Zenteno J.C., Chacon-Camacho O.F., Rodriguez-Dennen F., Camacho-Molina A., et al. | 2010 | CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WoS-id: 000276949000010
Scopus-id: 2-s2.0-77953203331
| 10 | 9 |
| 160 | Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy | Coautor y autor de correspondencia: Zenteno J.C., Pelcastre E.L., Villanueva-Mendoza C. | 2010 | CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WoS-id: 000279631300009
Scopus-id: 2-s2.0-77954645903
| 15 | 22 |
| 161 | Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases | Coautor: Zenteno J.C., Gonzalez-Rodriguez J., Pelcastre E.L., Tovilla-Canales J.L., et al. | 2010 | BRITISH JOURNAL OF OPHTHALMOLOGY | WoS-id: 000280575400028
Scopus-id: 2-s2.0-77955260735
| 64 | 73 |
| 162 | Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma | Coautor: Zenteno J.C., Ali M., Buentello-Volante B., McKibbin M., et al. | 2010 | MOLECULAR VISION | WoS-id: 000281282300002
Scopus-id: 2-s2.0-77955643791
| 39 | 40 |
| 163 | Familial case of Blau syndrome associated with a CARD15/NOD2 mutation | Coautor: Zenteno J.C., Villanueva-Mendoza C., Arellanes-Garca L., Cubas-Lorenzo V., et al. | 2010 | OPHTHALMIC GENETICS | WoS-id: 000282248100010
Scopus-id: 2-s2.0-77955545389
| 14 | 18 |
| 164 | Triple A or Allgrove Syndrome. A Case Report with Ophthalmic Abnormalities and a Novel Mutation in the AAAS Gene | Coautor: Zenteno J.C., Villanueva-Mendoza C., Martínez-Guzmán O., Rivera-Parra D. | 2009 | OPHTHALMIC GENETICS | WoS-id: 000262789600009
Scopus-id: 2-s2.0-61649084955
| 15 | 15 |
| 165 | Mutations in rpoB and katG genes in Mycobacterium isolates from the Southeast of Mexico | 2ᵒ autor: Zenteno J.C., Zenteno-Cuevas R., Cuellar A., Cuevas B., et al. | 2009 | Memorias Do Instituto Oswaldo Cruz | WoS-id: 000267332000012
Scopus-id: 2-s2.0-67649509616
| 29 | 30 |
| 166 | Clinical features associated with an I126M alpha 2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome | Coautor: Zenteno J.C., Murillo-Correa C.E., Kon-Jara V., Engle E.C. | 2009 | JOURNAL OF AAPOS | WoS-id: 000267343700006
Scopus-id: 2-s2.0-67449085064
| 14 | 18 |
| 167 | Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype-phenotype correlations | 1ᵉʳ autor: Zenteno J.C., Correa-Gomez V., Santacruz-Valdez C., Suarez-Sanchez R., et al. | 2009 | EXPERIMENTAL EYE RESEARCH | WoS-id: 000268707200008
Scopus-id: 2-s2.0-67650588816
| 27 | 30 |
| 168 | Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex | 1ᵉʳ autor: Zenteno J.C., Buentello-Volante B., Quiroz-González M.A., Quiroz-Reyes M.A. | 2009 | MOLECULAR VISION | WoS-id: 000270391700002
Scopus-id: 2-s2.0-70149097769
| 45 | 47 |
| 169 | CHM Gene Molecular Analysis and X-Chromosome Inactivation Pattern Determination in Two Families With Choroideremia | Coautor y autor de correspondencia: Zenteno J.C., Perez-Cano H.J., Garnica-hayashi R.E. | 2009 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000270745000012
Scopus-id: 2-s2.0-70349498495
| 29 | 32 |
| 170 | Molecular Screening of Rhodopsin and Peripherin/RDS Genes in Mexican Families with Autosomal Dominant Retinitis Pigmentosa | Coautor: Zenteno J.C., Matias-Florentino M., Ayala-Ramirez R., Graue-Wiechers F. | 2009 | CURRENT EYE RESEARCH | WoS-id: 000272677400006
Scopus-id: 2-s2.0-72449199525
| 14 | 12 |
| 171 | Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico | 1ᵉʳ autor: Zenteno J.C., Hernandez-Merino E., Mejia-Lopez H., Matías-Florentino M., et al. | 2008 | JOURNAL OF GLAUCOMA | WoS-id: 000255368700005
Scopus-id: 2-s2.0-42149113372
| 19 | 24 |
| 172 | Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy | 1ᵉʳ autor: Zenteno J.C., Ayala-Ramirez R., Graue-Wiechers F. | 2008 | CURRENT EYE RESEARCH | WoS-id: 000255438500002
Scopus-id: 2-s2.0-41949135860
| 21 | 22 |
| 173 | A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico | Coautor: Zenteno-Ruiz J.C., García-Ortiz L., Vargas-Alarcón G., Fragoso J.M., et al. | 2008 | GENETICS AND MOLECULAR RESEARCH | WoS-id: 000256387200002
Scopus-id: 2-s2.0-40749108090
| 5 | 4 |
| 174 | Comparative expression analysis of aquaporin-5 (AQP5) in keratoconic and healthy corneas | Coautor: Zenteno J.C., Garfias Y., Navas A., Pérez-Cano H.J., et al. | 2008 | MOLECULAR VISION | WoS-id: 000257264000001
Scopus-id: 2-s2.0-43149098349
| 22 | 22 |
| 175 | A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen | Coautor: Zenteno J.C., Crespí J., Buil J.A., Bassaganyas F., et al. | 2008 | AM J OPHTHALMOL | WoS-id: 000258128700024
Scopus-id: 2-s2.0-47549087325
| 77 | 84 |
| 176 | Human CHN1 mutations hyperactivate alpha 2-chimaerin and cause Duane's retraction syndrome | Coautor: Zenteno J.C., Miyake N., Chilton J., Psatha M., et al. | 2008 | Science | WoS-id: 000258261000047
Scopus-id: 2-s2.0-49449115659
| 127 | 148 |
| 177 | Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations | 1ᵉʳ autor: Zenteno J.C., Ruiz G., Pérez-Cano H.J., Camargo M. | 2008 | MOLECULAR VISION | WoS-id: 000258345400001
Scopus-id: 2-s2.0-48249119938
| 13 | 13 |
| 178 | PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome [Detección de deleciones en DNA mitocondrial heteroplásmico por medio de PCR en el síndrome de Kearns-Sayre] | Coautor: Zenteno J.C., Ramírez-Miranda A., Navas-Pérez A., Gurria-Quintana L., et al. | 2008 | Archivos de la Sociedad Espanola de Oftalmologia | Scopus-id: 2-s2.0-42949113921
| 0 | 8 |
| 179 | Updates in the treatment of retinitis pigmentosa [Actualidades en el tratamiento de la retinosis pigmentaria] | 2ᵒ autor y autor de correspondencia: Zenteno J.C., Achar V. | 2008 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-55249083988
| 0 | 0 |
| 180 | The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy | Coautor y autor de correspondencia: Zenteno J.C., Correa-Gomez V., Villalvazo-Cordero L. | 2007 | MOLECULAR VISION | WoS-id: 000249675100001
Scopus-id: 2-s2.0-34748864182
| 13 | 16 |
| 181 | A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features | 2ᵒ autor y autor de correspondencia: Zenteno J.C., De La Parra D.R. | 2007 | OPHTHALMIC GENETICS | WoS-id: 000252150700003
Scopus-id: 2-s2.0-37649015479
| 21 | 21 |
| 182 | Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia | Coautor y autor de correspondencia: Zenteno J.C., Garnica-Hayashi R.E., Vargas-Ortega J. | 2007 | Strabismus | Scopus-id: 2-s2.0-34250342515
| 0 | 2 |
| 183 | PAX6 gene intragenic deletions in Mexican patients with congenital aniridia | 2ᵒ autor y autor de correspondencia: Zenteno J.C., Ramirez-Miranda A. | 2006 | MOLECULAR VISION | WoS-id: 000236795900003
Scopus-id: 2-s2.0-33645720646
| 10 | 9 |
| 184 | Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation(Val113Ile) in a family with granular dystrophy | 1ᵉʳ autor: Zenteno J.C., Ramirez-Miranda A., Santacruz-Valdes C., Suarez-Sanchez R. | 2006 | MOLECULAR VISION | WoS-id: 000237026500002
Scopus-id: 2-s2.0-33645709434
| 19 | 25 |
| 185 | Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes | 1ᵉʳ autor: Zenteno J.C., Perez-Cano H.J., Aguinaga M. | 2006 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000240391800002
Scopus-id: 2-s2.0-33748595567
| 42 | 48 |
| 186 | A new autosomal recessive syndrome consisting of pasterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation | Coautor: Zenteno J.C., Ayala-Ramirez R., Graue-Wiechers F., Robredo V., et al. | 2006 | MOLECULAR VISION | WoS-id: 000243129300001
Scopus-id: 2-s2.0-33845733173
| 100 | 111 |
| 187 | Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family [Distrofia corneal granular autosómica dominante causada por mutación del gen TGFBI en una familia Mexicana] | 1ᵉʳ autor: Zenteno J.C., Santacruz-Valdés C., Ramírez-Miranda A. | 2006 | Archivos de la Sociedad Espanola de Oftalmologia | Scopus-id: 2-s2.0-33847004409
| 0 | 11 |
| 188 | A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype | Coautor: Zenteno J.C., Mutchinick O.M., Morales J.J., Del Castillo C.F. | 2005 | FERTILITY AND STERILITY | WoS-id: 000226445200029
Scopus-id: 2-s2.0-11844250637
| 7 | 7 |
| 189 | Clinical and cytogenetic findings in 14 patients with madelung anomaly | Coautor: Zenteno J.C., Blanco M.E., Pérez-Cabrera A., Kofman-Alfaro S. | 2005 | Orthopedics | WoS-id: 000227793600012
Scopus-id: 2-s2.0-15844375182
| 7 | 10 |
| 190 | Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63 | 1ᵉʳ autor: Zenteno J.C., Berdón-Zapata V., Kofman-Alfaro S., Mutchinick O.M. | 2005 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000227966700011
Scopus-id: 2-s2.0-15744380371
| 11 | 13 |
| 191 | Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome | Coautor: Zenteno J.C., García-Ortiz J.E., Banda-Espinoza F., Galván-Uriarte L.M., et al. | 2005 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000228759200005
Scopus-id: 2-s2.0-18244373461
| 5 | 7 |
| 192 | A novel filamin a D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation | Coautor: Zenteno J.C., Hidalgo-Bravo A., Pompa-Mera E.N., Kofman-Alfaro S., et al. | 2005 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WoS-id: 000230229100014
Scopus-id: 2-s2.0-22044435648
| 19 | 19 |
| 193 | CRYGD gene analysis in a family with autosomal dominant congenital cataract: Evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract | 1ᵉʳ autor: Zenteno J.C., Morales M.E., Moran-Barroso V., Sanchez-Navarro A. | 2005 | MOLECULAR VISION | WoS-id: 000230603000001
Scopus-id: 2-s2.0-26244431738
| 13 | 17 |
| 194 | Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene [6] | 1ᵉʳ autor: Zenteno J.C., Gascon-Guzman G., Tovilla-Canales J.L. | 2005 | CLINICAL GENETICS | WoS-id: 000233169500018
Scopus-id: 2-s2.0-28644438697
| 50 | 55 |
| 195 | p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly | Coautor: Zenteno J.C., Berdón-Zapata V., Granillo-Álvarez M., Valdés-Flores M., et al. | 2004 | J ORTHOP RES | WoS-id: 000187884300001
Scopus-id: 2-s2.0-17144447237
| 15 | 19 |
| 196 | Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences | Coautor: Zenteno J.C., Canto P., Kofman-Alfaro S., Jiménez A.L., et al. | 2004 | CANCER GENET CYTOGEN | WoS-id: 000220586700012
Scopus-id: 2-s2.0-1642398199
| 34 | 44 |
| 197 | Congenital absence of the breasts: A case report | Coautor: Zenteno J.C., Martínez-Chéquer J.C., Carranza-Lira S., López-Silva J.D., et al. | 2004 | AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | WoS-id: 000223139100064
Scopus-id: 2-s2.0-4043166360
| 0 | 4 |
| 198 | A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting [3] | Coautor: Zenteno J.C., Pozo G., Canún S., Kofman-Alfaro S. | 2004 | BRITISH JOURNAL OF DERMATOLOGY | WoS-id: 000224592000035
Scopus-id: 2-s2.0-8344275872
| 3 | 4 |
| 199 | Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitnasky-Küster-Hauser syndrome | 1ᵉʳ autor: Zenteno J.C., Carranza-Lira S., Kofman-Alfaro S. | 2004 | ARCHIVES OF GYNECOLOGY AND OBSTETRICS | Scopus-id: 2-s2.0-2442701406
| 0 | 40 |
| 200 | Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene | Coautor: Zenteno J.C., Vilchis F., Ramos L., Kofman-Alfaro S., et al. | 2003 | JOURNAL OF HUMAN GENETICS | WoS-id: 000184689300003
Scopus-id: 2-s2.0-0042471864
| 10 | 9 |
| 201 | 46,XY Agonadism associated with adrenal adenoma/myelolipoma: Report of a case analyzing Y-chromosome-specific sequences | Coautor: Zenteno J.C., Carranza-Lira S., Luisa Jiménez A., Quiroz E., et al. | 2003 | GYNECOLOGICAL ENDOCRINOLOGY | WoS-id: 000186228600011
Scopus-id: 2-s2.0-0242364728
| 4 | 5 |
| 202 | Genetic services in Mexico City | 2ᵒ autor y autor de correspondencia: Zenteno J.C., Kofman-Alfaro S. | 2003 | COMMUNITY GENET | WoS-id: 000228872900014
Scopus-id: 2-s2.0-8344289251
| 2 | 2 |
| 203 | A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis | 1ᵉʳ autor: Zenteno J.C., Carranza-Lira S., Jiménez A.L., Kofman S. | 2003 | JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION | Scopus-id: 2-s2.0-1042304269
| 0 | 6 |
| 204 | Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes | Coautor: Zenteno J.C., Monroy N., López M., Cervantes A., et al. | 2002 | AM J MED GENET | WoS-id: 000173116600001
Scopus-id: 2-s2.0-0037154032
| 16 | 23 |
| 205 | Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome | Coautor y autor de correspondencia: Zenteno J.C., Pérez-Cabrera A., Kofman-Alfaro S. | 2002 | J ORTHOP RES | WoS-id: 000178383400002
Scopus-id: 2-s2.0-0036375314
| 6 | 7 |
| 206 | Molecular analysis in true hermaphroditism: Demonstration of low-level hidden mosaicism for Y-derived sequence in 46,XX cases | 2ᵒ autor: Zenteno J.C., Queipo G., Peña R., Nieto K., et al. | 2002 | HUMAN GENETICS | WoS-id: 000178488600008
Scopus-id: 2-s2.0-0036765565
| 32 | 53 |
| 207 | Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor | 1ᵉʳ autor: Zenteno J.C., Chávez B., Vilchis F., Kofman-Alfaro S. | 2002 | HORM RES | Scopus-id: 2-s2.0-0036244805
| 10 | 15 |
| 208 | Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue | 1ᵉʳ autor: Zenteno J.C., Jiménez A.L., Canto P., Valdéz H., et al. | 2001 | AM J MED GENET | WoS-id: 000167463700013
Scopus-id: 2-s2.0-0035869220
| 8 | 12 |
| 209 | Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity | Coautor: Zenteno J., Chávez B., Vilchis F., Larrea F., et al. | 2001 | CLINICAL GENETICS | WoS-id: 000167644100009
Scopus-id: 2-s2.0-0035096494
| 11 | 12 |
| 210 | Kallmann syndrome (hypogonadotropism-anosmia) and Klippel-Feil anomaly in the same patient | 1ᵉʳ autor: Zenteno J.C., Venegas C., Santiago E., Kofman-Alfaro S. | 2000 | CLINICAL DYSMORPHOLOGY | WoS-id: 000084793300016
Scopus-id: 2-s2.0-0033983840
| 2 | 1 |
| 211 | Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA | Coautor: Zenteno J.C., Jiménez A.L., Kofman-Alfaro S., Berumen J., et al. | 2000 | AM J MED GENET | WoS-id: 000088501700013
Scopus-id: 2-s2.0-0034726729
| 21 | 32 |
| 212 | An atypical contiguous gene syndrome: Molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis | Coautor: Zenteno J.C., Maya-Nuñez G., Torres L., Ulloa-Aguirre A., et al. | 1999 | CLINICAL ENDOCRINOLOGY | WoS-id: 000078992700004
Scopus-id: 2-s2.0-0033017287
| 13 | 19 |
| 213 | Renal abnormalities in patients with Kallmann syndrome | 1ᵉʳ autor: Zenteno J.C., Méndez J.P., Maya-Núñez G., Ulloa-Aguirre A., et al. | 1999 | BJU INT | WoS-id: 000079776900003
Scopus-id: 2-s2.0-0033032907
| 22 | 30 |
| 214 | Evidence that AEC syndrome and Bowen-Armstrong syndrome are variable expressions of the same disease | 1ᵉʳ autor: Zenteno J.C., Venegas C., Kofman-Alfaro S. | 1999 | PEDIATRIC DERMATOLOGY | WoS-id: 000079842600004
Scopus-id: 2-s2.0-0033004696
| 10 | 13 |
| 215 | Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia | 1ᵉʳ autor: Zenteno J.C., Canto P., Kofman-Alfaro S., Mendez J.P. | 1999 | JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | WoS-id: 000083013300063
Scopus-id: 2-s2.0-0033305014
| 17 | 24 |
| 216 | Genetic factors in the blepharophimosis-ptosis and inverse epicantal folds syndrome [Aspectos geneticos en el sindrome de blefarofimosis-ptosis y epicanto inverso. Revision en 3 familias mexicanas] | 2ᵒ autor: Zenteno-Ruiz J.C., Murua-Martinez-Saldana E., Del Angel-Arenas M.T., Aguinaga-Rios M. | 1999 | Revista Mexicana De Oftalmología | Scopus-id: 2-s2.0-0032795124
| 0 | 0 |
| 217 | Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene | Coautor: Zenteno J.C., Maya-Núñez G., Cuevas-Covarrubias S., Ulloa-Aguirre A., et al. | 1998 | CLINICAL ENDOCRINOLOGY | WoS-id: 000074262600007
Scopus-id: 2-s2.0-0031839020
| 29 | 36 |
| 218 | Genetic heterogeneity and phenotypic variability in 46,XY sex reversal [Heterogeneidad genética y variabilidad fenotípica en la reversión sexual 46,XY] | 2ᵒ autor: Zenteno J.C., López-López M., Méndez J.P., Kofman-Alfaro S. | 1998 | REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION | WoS-id: 000074500400014
Scopus-id: 2-s2.0-0032015235
| 0 | 3 |
| 219 | Autosomal dominant inheritance of adducted thumbs and other digital anomalies | 2ᵒ autor: Zenteno J.C., Miranda A., Santiago E., Kofman-Alfaro S. | 1998 | CLINICAL GENETICS | WoS-id: 000075282200017
Scopus-id: 2-s2.0-0031903789
| 3 | 3 |
| 220 | A reccurent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome | 2ᵒ autor: Zenteno J.C., Maya-Nuñez G., Ulloa-Aguirre A., Kofman-Alfaro S., et al. | 1998 | JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | Scopus-id: 2-s2.0-0031596966
| 41 | 53 |
| 221 | Additional evidence of a continuous phenotypic spectrum in the short rib-polydactyly syndromes | Coautor: Zenteno J.C., Blanco M.E., Valdés J.M., Kofman-Alfaro S., et al. | 1998 | PEDIATR PATHOL MOL M | Scopus-id: 2-s2.0-0032322901
| 0 | 1 |
| 222 | Two SRY-negative XX male brothers without genital ambiguity | 1ᵉʳ autor: Zenteno J.C., López M., Vera C., Méndez J.P., et al. | 1997 | HUMAN GENETICS | WoS-id: A1997XY68100022
Scopus-id: 2-s2.0-2642680023
| 46 | 52 |
| 223 | Triphalangeal thumb and brachyectrodactyly syndrome: An uncommon entity with evidence of geographic distribution | 1ᵉʳ autor: Zenteno J.C., Aguinaga M., Chávez V., Sastré N., et al. | 1996 | CLINICAL GENETICS | WoS-id: A1996VT55100009
Scopus-id: 2-s2.0-0029862824
| 4 | 4 |
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