J. Zenteno

发表

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia–anophthalmia–coloboma (MAC) spectrum cases

J. García-Ortiz, J. González-Rodríguez, E. Pelcastre, 2010, British Journal of Ophthalmology.

Mutations in a novel serine protease PRSS56 in families with nanophthalmos

M. Dubé, M. Matsuoka, S. Evans, 2011, Molecular vision.

A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting

S. Canún, J. Zenteno, G. Pozo, 2004, The British journal of dermatology.

p63 gene analysis in Mexican patients with syndromic and non‐syndromic ectrodactyly

J. García-Ortiz, J. Zenteno, M. Valdés-Flores, 2004, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb—brachyectrodactyly syndrome

J. Zenteno, S. Kofman‐Alfaro, A. Pérez-Cabrera, 2002, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Sarah C. Nelson, U. Thorsteinsdóttir, M. Nöthen, 2017, Nature Genetics.

J. Zenteno, D. Matías-Pérez, I. García-Montalvo, 2019, Gaceta de M�xico.

CHM gene molecular analysis and X‐chromosome inactivation pattern determination in two families with choroideremia

J. Zenteno, H. Perez-Cano, R. Garnica-Hayashi, 2009, American journal of medical genetics. Part A.

Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches

J. Zenteno, F. J. Estrada-Mena, Claudia Palacio-Pastrana, 2020, Ophthalmic genetics.

Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity

J. Zenteno, J. Crespí, B. Buentello-Volante, 2014, Graefe's Archive for Clinical and Experimental Ophthalmology.

Erratum to: Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity

J. Zenteno, J. Crespí, B. Buentello-Volante, 2014, Graefe's Archive for Clinical and Experimental Ophthalmology.

Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome☆

J. Zenteno, M. Granillo-Alvarez, O. Chacon-Camacho, 2013, Meta gene.

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

J. Zenteno, M. A. Ramírez-García, O. Chacon-Camacho, 2013, Case reports in genetics.

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.

J. Zenteno, M. Granillo-Alvarez, O. Chacon-Camacho, 2013, Experimental eye research.

Significant Association Between Variant in SGCD and Age-Related Macular Degeneration

J. Zenteno, A. Luna-Angulo, F. J. Estrada-Mena, 2018, Genes.

Differential Expression of the apsXRS System by Antimicrobial Peptide LL-37 in Commensal and Clinical Staphylococcus epidermidis Isolates

M. Cancino-Diaz, S. Rodríguez-Martínez, N. Velázquez-Guadarrama, 2019, Indian Journal of Microbiology.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

C. Villanueva-Mendoza, J. Zenteno, C. E. Villarroel, 2018, Journal of Human Genetics.

The PTPN22 R620W polymorphism in anti-neutrophil cytoplasmic antibody-associated vasculitis in Mexican Mestizos.

G. Lima, L. Flores-Suárez, J. Zenteno, 2016, Rheumatology.

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

C. González-Bonilla, J. Zenteno, S. Kofman‐Alfaro, 2005, American journal of medical genetics. Part A.

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.

J. Zenteno, J. Crespí, J. Buil, 2008, American journal of ophthalmology.

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

M. Amato-Almanza, J. Zenteno, R. Ayala-Ramírez, 2006, Molecular vision.

Phenotypic Heterogeneity Associated with Identical Mutations in Residue 870 of the Androgen Receptor

J. Zenteno, S. Kofman‐Alfaro, B. Chávez, 2002, Hormone Research in Paediatrics.

Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation

J. Zenteno, M. Jiménez-Martínez, F. Cruz, 2011, International journal of immunogenetics.

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

M. Pérezpeña-Díazconti, J. Zenteno, O. Chacon-Camacho, 2020, American journal of medical genetics. Part A.

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

J. Zenteno, A. Ulloa-Aguirre, J. P. Méndez, 1998, The Journal of clinical endocrinology and metabolism.

Sonic hedgehog mutation analysis in patients with VACTERL association

J. Zenteno, H. Perez-Cano, M. Aguinaga, 2010, American journal of medical genetics. Part A.

Contribution of APOA5, APOC3, CETP, ABCA1 and SIK3 genetic variants to hypertriglyceridemia development in Mexican HIV-patients receiving antiretroviral therapy

R. Ribas-Aparicio, J. Zenteno, A. Gómez-Delgado, 2021, Pharmacogenetics and genomics.

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.

J. González-Rodríguez, J. Zenteno, P. Medina-Bravo, 2015, Gene.

Anophthalmia‐esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes

J. Zenteno, H. Perez-Cano, M. Aguinaga, 2006, American journal of medical genetics. Part A.

An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14)

J. Zenteno, B. Buentello-Volante, S. Cuevas-Covarrubias, 2012, American journal of medical genetics. Part A.

Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity

F. Larrea, J. Zenteno, S. Kofman‐Alfaro, 2001, Clinical genetics.

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

J. Zenteno, O. Chacon-Camacho, R. Arce-González, 2022, Graefe's Archive for Clinical and Experimental Ophthalmology.

Familial case of Blau syndrome associated with a CARD15/NOD2 mutation

L. Flores-Suárez, C. Villanueva-Mendoza, J. Zenteno, 2009, Ophthalmic genetics.

Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration

R. Sásik, S. Borooah, R. Ayyagari, 2022, Scientific Reports.

Contribution of CYP1B1 Mutations and Founder Effect to Primary Congenital Glaucoma in Mexico

J. García-Ortiz, J. Zenteno, H. Mejía-López, 2008, Journal of glaucoma.

Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1

A. Rojas-Martínez, J. Zenteno, R. Villafuerte-de la Cruz, 2022, Frontiers in Genetics.

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations

J. Zenteno, H. Perez-Cano, Gabriela Ruiz, 2008, Molecular vision.

Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for TBX1 in Patients with Conotruncal Congenital Heart Disease

J. Zenteno, J. Lara-Riegos, D. Cruz-Robles, 2022, Cardiogenetics.

Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease

J. Zenteno, C. Cortés, Renée Barreda Fierro, 2020, Neuromuscular Disorders.

Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.

D. Bartsch, A. Dinculescu, Bhubanananda Sahu, 2019, Human gene therapy.

Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly

J. Zenteno, M. Aguinaga, I. Llano, 2011, Case reports in genetics.

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

C. Frausto-Reyes, J. Zenteno, J. R. Molina-Contreras, 2019, Chemical Papers.

Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD)

J. Tovilla-Canales, J. Zenteno, Marisa Cruz-Aguilar, 2016, Journal of Investigative Medicine.

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

M. Zenker, I. Wieland, C. Villanueva-Mendoza, 2019, Molecular genetics & genomic medicine.

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

D. Schorderet, J. Zenteno, V. Kheir, 2019, Human mutation.

Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.

R. Coral-Vázquez, P. Canto, R. Calzada-León, 2018, Reproductive biomedicine online.

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex

J. Zenteno, B. Buentello-Volante, Miguel A Quiroz-Reyes, 2009, Molecular vision.

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations.

C. Villanueva-Mendoza, J. Zenteno, V. Correa-Gomez, 2009, Experimental eye research.

[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family].

J. Zenteno, A. Ramirez-Miranda, C. Santacruz-Valdes, 2006, Archivos de la Sociedad Espanola de Oftalmologia.

Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.

E. Engle, J. Zenteno, V. Kon-Jara, 2009, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY

P. Chévez-Barrios, V. Franco-Cárdenas, J. Dalma-Weiszhausz, 2022, Retina.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

C. Villanueva-Mendoza, J. Zenteno, C. E. Villarroel, 2018, Journal of Human Genetics.

SOX2 anophthalmia syndrome and dental anomalies

J. Zenteno, O. Chacon-Camacho, Bertha Irene Fuerte-Flores, 2015, American journal of medical genetics. Part A.

Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome

J. Zenteno, O. Chacon-Camacho, J. Vázquez, 2011, American journal of medical genetics. Part A.

Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes.

J. Mendiola, J. Zenteno, O. Chacon-Camacho, 2012, European journal of medical genetics.

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.

J. Zenteno, A. González-del Angel, E. Lieberman, 2019, Gene.

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

M. Pérezpeña-Díazconti, J. Zenteno, Jesús Cabral-Macías, 2020, Molecular vision.

Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation

J. Zenteno, A. Navas, A. Ramirez-Miranda, 2016, Cornea.

Molecular and Phenotypic Characterization of Staphylococcus epidermidis Isolates from Healthy Conjunctiva and a Comparative Analysis with Isolates from Ocular Infection

M. Cancino-Diaz, S. Rodríguez-Martínez, J. Zenteno, 2015, PloS one.

Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI

R. Frausto, Anushree Sharma, A. Aldave, 2017, Cornea.

Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

C. Inglehearn, C. Toomes, Manir Ali, 2013, Cornea.

Sclerocornea–Microphthalmia–Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature

J. Zenteno, A. Navas, N. Quiroz-Casian, 2018, Cornea.

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

J. Zenteno, A. Navas, O. Chacon-Camacho, 2017, Cornea.

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

M. McKibbin, C. Inglehearn, N. Fernandez-Fuentes, 2010, Molecular vision.

An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village

Manir Ali, J. Zenteno, C. Pantoja-Meléndez, 2013, Molecular vision.

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

J. Zenteno, A. Navas, A. Ramirez-Miranda, 2019, The American journal of case reports.

TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies

J. González-Rodríguez, J. Zenteno, A. Ramirez-Miranda, 2014, Graefe's Archive for Clinical and Experimental Ophthalmology.

Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant

J. Zenteno, A. Ramirez-Miranda, Enrique O. Graue-Hernández, 2022, Ophthalmic genetics.

Review and update on the molecular basis of Leber congenital amaurosis.

J. Zenteno, O. Chacon-Camacho, 2015, World journal of clinical cases.

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

S. Carranza-Lira, J. Zenteno, S. Kofman‐Alfaro, 2004, Archives of Gynecology and Obstetrics.

Comparative expression analysis of aquaporin-5 (AQP5) in keratoconic and healthy corneas

L. Villalvazo, J. Zenteno, A. Navas, 2008, Molecular vision.

Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.

J. Tovilla-Canales, J. Zenteno, O. Chacon-Camacho, 2018, Ophthalmic plastic and reconstructive surgery.

Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III

J. Zenteno, J. Toral-López, T. Córdoba-Cabeza, 2013, Journal of Pediatric Genetics.

Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism

G. García-Aguirre, C. Villanueva-Mendoza, J. Zenteno, 2014, International Ophthalmology.

Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue.

P. Canto, J. Zenteno, J. P. Méndez, 2001, American journal of medical genetics.

Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences.

P. Canto, J. Zenteno, D. Söderlund, 2004, Cancer genetics and cytogenetics.

Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes.

S. Canún, J. Zenteno, Marisol López, 2002, American journal of medical genetics.

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases

G. Queipo, Rocío Peña, J. Zenteno, 2002, Human Genetics.

Two SRY-negative XX male brothers without genital ambiguity

J. Zenteno, J. P. Méndez, Marisol López, 1997, Human Genetics.

A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis

S. Carranza-Lira, J. Zenteno, S. Kofman, 2003, Journal of endocrinological investigation.

Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA.

P. Canto, J. Zenteno, J. P. Méndez, 2000, American journal of medical genetics.

Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism

M. Soriano-Ursúa, R. Coral-Vázquez, P. Canto, 2015, Endocrine research.

46,XY agonadism associated with adrenal adenoma/myelolipoma: report of a case analyzing Y-chromosome-specific sequences

S. Carranza-Lira, J. Zenteno, S. Kofman‐Alfaro, 2003, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2014, Human Genetics.

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing

J. Zenteno, Marisa Cruz-Aguilar, O. Chacon-Camacho, 2019, Molecular genetics & genomic medicine.

The clinical implications of molecular monitoring and analyses of inherited retinal diseases

J. Zenteno, O. Chacon-Camacho, Leopoldo A García-Montaño, 2017, Expert review of molecular diagnostics.

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

J. Zenteno, O. Chacon-Camacho, R. Arce-González, 2022, Graefe's Archive for Clinical and Experimental Ophthalmology.

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

C. Villanueva-Mendoza, J. Zenteno, B. Buentello-Volante, 2011, American journal of medical genetics. Part A.

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations

C. Villanueva-Mendoza, J. Zenteno, V. Cortés-González, 2016, American journal of medical genetics. Part A.

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

M. Zenker, D. Schanze, J. Zenteno, 2017, European journal of medical genetics.

Centromere-associated protein E expresses a novel mRNA isoform in acute lymphoblastic leukemia.

J. Zenteno, M. Zapata-Tárres, S. Juárez-Méndez, 2018, International journal of molecular epidemiology and genetics.

PAX6 gene intragenic deletions in Mexican patients with congenital aniridia.

J. Zenteno, A. Ramirez-Miranda, 2006, Molecular vision.

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma‐coloboma syndrome

N. Sobreira, J. Zenteno, R. Piña-Aguilar, 2016, American journal of medical genetics. Part A.

Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution

J. Zenteno, S. Kofman‐Alfaro, M. Aguinaga, 1996, Clinical genetics.

Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population

J. Zenteno, M. Jaimes, A. Miranda-Duarte, 2012, Ophthalmic genetics.

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

J. Zenteno, M. Aguinaga, Beatriz Buentello, 2013, Prenatal diagnosis.

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

J. Parisi, P. Blackburn, X. Ortiz-González, 2018, American journal of medical genetics. Part A.

Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia–Esophageal Atresia Syndrome Negative for SOX2 Mutation

J. Zenteno, Jesús Cabral-Macías, L. Bobadilla-Morales, 2013, American journal of medical genetics. Part A.

Bilateral anophthalmia and brain malformations caused by a 20‐bp deletion in the SOX2 gene

J. Tovilla-Canales, J. Zenteno, G. Gascón–Guzmán, 2005, Clinical genetics.

The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome

M. Ramsay, U. Schlötzer-Schrehardt, T. Aung, 2019, Human molecular genetics.

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

J. Zenteno, A. Miranda-Duarte, Dalia Guadarrama-Vallejo, 2013, Molecular vision.

Clinical and molecular features of familial and sporadic cases of von Hippel‐Lindau disease from Mexico

A. Rasmussen, J. Zenteno, A. Camacho-Molina, 2010, Clinical & experimental ophthalmology.

Nasopalpebral Lipoma‐Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case

J. Zenteno, R. Piña-Aguilar, O. Chacon-Camacho, 2013, American journal of medical genetics. Part A.

Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.

J. Zenteno, B. Buentello-Volante, O. Chacon-Camacho, 2014, Gene.

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

J. Zenteno, Juan C Zenteno, Oscar F Chacon-Camacho, 2013, Gene.

ASSOCIATION STUDY BETWEEN POLYMORPHISMS OF THE p53 AND LYMPHOTOXIN ALPHA (LTA) GENES AND THE RISK OF PROLIFERATIVE VITREORETINOPATHY/RETINAL DETACHMENT IN A MEXICAN POPULATION

J. Zenteno, N. Quiroz-Casian, I. García-Montalvo, 2018, Retina.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Yusuke Nakamura, Toshihiro Tanaka, A. Munnich, 2015, American journal of human genetics.

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

J. Zenteno, L. C. Zepeda-Romero, L. Bobadilla-Morales, 2020, American journal of medical genetics. Part A.

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation

J. Zenteno, O. Chacon-Camacho, R. Matsui, 2018, Molecular vision.

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

J. Zenteno, B. Roque-Ramírez, A. Miranda-Duarte, 2017, PloS one.

Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

J. Zenteno, Leopoldo A García-Montaño, Leopoldo A. García-Montaño, 2018, American journal of medical genetics. Part A.

Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia.

P. Canto, J. Zenteno, J. P. Méndez, 1999, The Journal of clinical endocrinology and metabolism.

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects

C. Villanueva-Mendoza, J. Zenteno, H. Mejía-López, 2008, British Journal of Ophthalmology.

Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population

P. Valencia-Mayoral, M. Cerbón, J. Zenteno, 2013, Meta gene.

Triple A or Allgrove Syndrome. A Case Report with Ophthalmic Abnormalities and a Novel Mutation in the AAAS Gene

C. Villanueva-Mendoza, J. Zenteno, David Rivera-Parra, 2009, Ophthalmic genetics.

Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

Alfonso Baldi, Michelle Cheung, Mustafa Sahin, 2008, Science.

Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63

O. Mutchinick, J. Zenteno, S. Kofman‐Alfaro, 2005, American journal of medical genetics. Part A.

A New GJA1 (Connexin 43) Mutation Causing Oculodentodigital Dysplasia Associated to Uncommon Features

J. Zenteno, David Rivera de la Parra, 2007, Ophthalmic genetics.

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

M. Nöthen, M. Brown, Y. Teo, 2015, Nature Genetics.

Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population

S. Romero-Hidalgo, J. Zenteno, M. A. Ramírez-García, 2022, Neurodegenerative Diseases.

OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations

J. Zenteno, O. Chacon-Camacho, Leyla Camarillo-Blancarte, 2011, Ophthalmic genetics.

Genome‐wide mRNA analysis reveals a TUBD1 isoform profile as a potential biomarker for diabetic retinopathy development

J. Zenteno, B. Buentello-Volante, V. Villegas-Ruíz, 2017, Experimental eye research.

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

J. Zenteno, O. Chacon-Camacho, Tania Barragán-Arévalo, 2020, European journal of medical genetics.

D14 repeat polymorphism of the asporin gene is associated with primary osteoarthritis of the knee in a Mexican Mestizo population

J. Zenteno, V. Borgonio-Cuadra, A. Miranda-Duarte, 2017, International journal of rheumatic diseases.

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

J. Zenteno, Marisa Cruz-Aguilar, O. Chacon-Camacho, 2019, Molecular genetics and metabolism reports.

CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans

J. Fernández-López, I. Silva-Zolezzi, A. Contreras, 2014, Molecular vision.

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

S. R. Krishnadas, Chaw Chaw Khaing, Y. Teo, 2016, Nature Genetics.

Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population.

J. Zenteno, Jesús Cabral-Macías, B. Buentello-Volante, 2013, Experimental eye research.

Differential Expression of the apsXRS System by Antimicrobial Peptide LL-37 in Commensal and Clinical Staphylococcus epidermidis Isolates

M. Cancino-Diaz, S. Rodríguez-Martínez, N. Velázquez-Guadarrama, 2019, Indian Journal of Microbiology.

Molecular Screening of Rhodopsin and Peripherin/RDS Genes in Mexican Families with Autosomal Dominant Retinitis Pigmentosa

J. Zenteno, R. Ayala-Ramírez, F. Graue-Wiechers, 2009, Current eye research.

Competition/antagonism associations of biofilm formation among Staphylococcus epidermidis Agr groups I, II, and III

M. Cancino-Diaz, S. Rodríguez-Martínez, J. Zenteno, 2019, Journal of Microbiology.

Staphylococcus epidermidis with the icaA⁻/icaD⁻/IS256⁻ genotype and protein or protein/extracellular-DNA biofilm is frequent in ocular infections.

M. Cancino-Diaz, J. Zenteno, J. Cancino-Diaz, 2013, Journal of medical microbiology.

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

J. Zenteno, O. Chacon-Camacho, R. Arce-González, 2021, Ophthalmic genetics.

Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease

J. Zenteno, R. Piña-Aguilar, O. Chacon-Camacho, 2014, Case reports in neurological medicine.

Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.

J. Zenteno, V. Villegas-Ruíz, S. Contreras-Capetillo, 2015, Clinical biochemistry.

Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.

J. Zenteno, Jesús Cabral-Macías, Gabriela Rodríguez-Ruiz, 2013, Gene.

The Relevance of Cataract as a Risk Factor for Age-Related Macular Degeneration: A Machine Learning Approach

J. Zenteno, F. J. Estrada-Mena, Antonieta Martínez-Velasco, 2019, Applied Sciences.

Competition/antagonism associations of biofilm formation among Staphylococcus epidermidis Agr groups I, II, and III

M. Cancino-Diaz, S. Rodríguez-Martínez, J. Zenteno, 2019, Journal of Microbiology.

[Gene therapy for vision restoration in patients with Leber congenital amaurosis (LCA) due to RPE65 gene mutations: beginning the phase IV trial].

J. Zenteno, O. Chacon-Camacho, 2017, Gaceta medica de Mexico.

A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing

J. Zenteno, R. Piña-Aguilar, Carolina Galaz-Montoya, 2019, Boletín Médico del Hospital Infantil de México (English Edition).

A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.

J. Zenteno, R. Piña-Aguilar, Carolina Galaz-Montoya, 2019, Boletin medico del Hospital Infantil de Mexico.

Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis.

J. Zenteno, E. Carrasco-Gerard, Agustín Rodas-Serrano, 2020, Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion.

Acro‐spondylo‐pubic dysostosis associated with cataracts, microcephaly, and normal intelligence

J. González-Rodríguez, J. Zenteno, R. Piña-Aguilar, 2015, American journal of medical genetics. Part A.

Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population

J. Zenteno, B. Buentello-Volante, R. Ayala-Ramírez, 2012, Molecular vision.

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.

J. Zenteno, O. Chacon-Camacho, Vanessa Villegas, 2017, Genetic testing and molecular biomarkers.

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X‐linked exudative vitreoretinopathy

E. Pelcastre, C. Villanueva-Mendoza, J. Zenteno, 2010, Clinical & experimental ophthalmology.

Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase‐associated neurodegeneration

M. Rodríguez-Violante, J. Arteaga-Vázquez, O. Mutchinick, 2015, Clinical genetics.

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

J. Zenteno, O. Chacon-Camacho, Vianey Ordóñez-Labastida, 2023, Molecular vision.

Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis.

C. Villanueva-Mendoza, J. Zenteno, E. Pelcastre-Luna, 2017, Archivos de la Sociedad Española de Oftalmología.

Novel CYP4V2 Gene Mutation in a Mexican Patient with Bietti's Crystalline Corneoretinal Dystrophy

J. Zenteno, R. Ayala-Ramírez, F. Graue-Wiechers, 2008, Current Eye Research.

The 95ΔG mutation in the 5'untranslated region of the norA gene increases efflux activity in Staphylococcus epidermidis isolates.

M. Cancino-Diaz, S. Rodríguez-Martínez, J. Zenteno, 2017, Microbial pathogenesis.

Correction: Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

M. Nöthen, M. Brown, Y. Teo, 2015, Nature Genetics.

Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.

A. J. Roman, W. Hauswirth, T. Aleman, 2012, Human gene therapy.

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

C. Macaluso, J. Zenteno, R. Leaci, 2012, Molecular vision.

Machine Learning Method to Establish the Connection Between Age Related Macular Degeneration and Some Genetic Variations

María de Lourdes Martínez-Villaseñor, Luis Miralles Pechuán, Antonieta Martínez-Velasco, 2016, UCAmI.

[Gene therapy for hereditary ophthalmological diseases: Advances and future perspectives].

J. Zenteno, O. Chacon-Camacho, Aline Astorga-Carballo, 2015, Gaceta medica de Mexico.

Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene

J. Zenteno, J. P. Méndez, S. Kofman‐Alfaro, 2003, Journal of Human Genetics.

Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.

J. Zenteno, A. Ramirez-Miranda, R. Suárez-Sánchez, 2006, Molecular vision.

Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome

J. García-Ortiz, J. Zenteno, Jose E García-Ortiz, 2005, American journal of medical genetics. Part A.

A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype.

O. Mutchinick, J. Zenteno, C. D. del Castillo, 2005, Fertility and sterility.

Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.

J. Zenteno, E. Hazan-Lasri, M. Valdés-Flores, 2014, International journal of clinical and experimental medicine.

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

J. Zenteno, O. Chacon-Camacho, R. Arce-González, 2022, International Ophthalmology.

Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion

J. Zenteno, M. Granillo-Alvarez, O. Chacon-Camacho, 2013, Ophthalmic genetics.

Exogenous CFH Modulates Levels of Pro-Inflammatory Mediators to Prevent Oxidative Damage of Retinal Pigment Epithelial Cells with the At-Risk CFH Y402H Variant

J. Zenteno, Marisa Cruz-Aguilar, Alberto Salazar, 2023, Antioxidants.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2013, Human Genetics.

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?

J. Zenteno, C. Galaviz-Hernández, Arturo Hernández, 2022, American journal of medical genetics. Part A.

Additional Evidence of a Continuous Phenotypic Spectrum in the Short Rib-Polydactyly Syndromes

J. Zenteno, S. Kofman‐Alfaro, J. M. Valdes, 1998 .

Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6

J. García-Ortiz, J. Zenteno, L. Becerra-Solano, 2016, Clinical dysmorphology.

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

J. Arteaga-Vázquez, O. Mutchinick, J. Zenteno, 2013, European Journal of Medical Genetics.

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants

J. Zenteno, O. Chacon-Camacho, G. Ledesma-Gil, 2017, Clinical & experimental ophthalmology.

Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.

J. Arteaga-Vázquez, O. Mutchinick, J. Zenteno, 2016, Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion.

A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy

J. Zenteno, R. Piña-Aguilar, M. C. Gallegos-Rivas, 2016, Systems biology in reproductive medicine.

CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.

J. Zenteno, V. Morán-Barroso, M. E. Morales, 2005, Molecular vision.

Congenital absence of the breasts: a case report.

S. Carranza-Lira, J. Zenteno, J. C. Martínez-Chéquer, 2004, American Journal of Obstetrics and Gynecology.

J. Zenteno, L. Bobadilla-Morales, J. Corona-Rivera, 2023, European Journal of Medical Genetics.

WHOLE SEQUENCING OF THE MITOCHONDRIAL GENOME OF BREAST CANCER TISSUE IN MEXICAN-MESTIZO POSTMENOPAUSAL WOMEN WITH DIFFERENT BODY MASS INDEX.

R. Coral-Vázquez, P. Canto, J. Zenteno, 2019, Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion.

Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

C. Inglehearn, C. Toomes, Manir Ali, 2013, Cornea.

Triple A or Allgrove Syndrome. A Case Report with Ophthalmic Abnormalities and a Novel Mutation in the AAAS Gene

C. Villanueva-Mendoza, J. Zenteno, David Rivera-Parra, 2009, Ophthalmic genetics.

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X‐linked exudative vitreoretinopathy

E. Pelcastre, C. Villanueva-Mendoza, J. Zenteno, 2010, Clinical and Experimental Ophthalmology.

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

J. Zenteno, I. García-Montalvo, B. Buentello-Volante, 2014, Ophthalmic genetics.

16S rRNA gene-based identification of bacteria in postoperative endophthalmitis by PCR-Denaturing Gradient Gel Electrophoresis (PCR-DGGE) fingerprinting

Yendi E. Navarro-Noya, C. Hernández-Rodríguez, M. Cancino-Diaz, 2012, Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology].

Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.

J. Zenteno, V. Villegas-Ruíz, S. Contreras-Capetillo, 2015, Clinical biochemistry.

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”

J. Zenteno, O. Chacon-Camacho, M.C. Astiazarán, 2023, European Journal of Medical Genetics.

Clinical and molecular features of familial and sporadic cases of von Hippel‐Lindau disease from Mexico

A. Rasmussen, J. Zenteno, A. Camacho-Molina, 2010, Clinical & experimental ophthalmology.

Mutations in a novel serine protease PRSS56 in families with nanophthalmos

M. Dubé, M. Matsuoka, S. Evans, 2011, Molecular vision.

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

C. Villanueva-Mendoza, J. Zenteno, B. Buentello-Volante, 2011, American journal of medical genetics. Part A.

[PCR-based detection of heteroplasmic deleted mitochondrial DNA in Kearns-Sayre syndrome].

J. Zenteno, A. Ramirez-Miranda, C. Murillo-Correa, 2008, Archivos de la Sociedad Espanola de Oftalmologia.

Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.

J. Zenteno, F. García-Martínez, Vianey Ordoñez-Labastida, 2022, Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion.

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

J. Zenteno, L. Bobadilla-Morales, J. Corona-Rivera, 2023, Molecular Syndromology.