Juan Carlos Zenteno

Summary

Country: Mexico

Publications

  1. ncbi request reprint A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome
    G Maya-Nunez
    Research Unit in Developmental Biology, Centro Medico Nacional Siglo XXI, Instituto Mexicano del Seguo Social, Mexico City, Mexico
    J Clin Endocrinol Metab 83:1650-3. 1998
  2. ncbi request reprint Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy
    Juan Carlos Zenteno
    Department of Genetics and the Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Mol Vis 12:331-5. 2006
  3. ncbi request reprint Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes
    Juan Carlos Zenteno
    Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Am J Med Genet A 140:1899-903. 2006
  4. ncbi request reprint [Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]
    J C Zenteno
    Instituto de Oftalmología Conde de Valenciana, Mexico D F, Mexico
    Arch Soc Esp Oftalmol 81:369-74. 2006
  5. ncbi request reprint Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63
    Juan Carlos Zenteno
    Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico
    Am J Med Genet A 134:74-6. 2005
  6. ncbi request reprint CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract
    Juan Carlos Zenteno
    Department of Genetics, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico
    Mol Vis 11:438-42. 2005
  7. doi request reprint Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity
    David Rivera-De la Parra
    Retina Department, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico
    Gene 519:173-6. 2013
  8. ncbi request reprint Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene
    Felipe Vilchis
    Department of Reproductive Biology, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Vasco de Quiroga 15, Tlalpan C P 14000, Mexico D F, Mexico
    J Hum Genet 48:346-51. 2003
  9. ncbi request reprint The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy
    Vicente Correa-Gomez
    Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Mol Vis 13:1695-700. 2007
  10. doi request reprint Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos
    Juan Carlos Zenteno
    Faculty of Medicine, Department of Biochemistry, National Autonomous University of Mexico, Mexico City, Mexico
    Am J Med Genet A 155:1001-6. 2011

Collaborators

Detail Information

Publications34

  1. ncbi request reprint A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome
    G Maya-Nunez
    Research Unit in Developmental Biology, Centro Medico Nacional Siglo XXI, Instituto Mexicano del Seguo Social, Mexico City, Mexico
    J Clin Endocrinol Metab 83:1650-3. 1998
    ..The same missense mutation was found in 6 of the 12 patients, indicating the possibility that it derived from a common ancestor or suggesting the presence of a hot spot in this region of the gene...
  2. ncbi request reprint Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy
    Juan Carlos Zenteno
    Department of Genetics and the Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Mol Vis 12:331-5. 2006
    ..To report the clinical and molecular study of a family with an autosomal dominant stromal granular dystrophy of the cornea caused by a novel and unusual TGFBI gene mutation...
  3. ncbi request reprint Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes
    Juan Carlos Zenteno
    Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Am J Med Genet A 140:1899-903. 2006
    ..We discuss the probable sources for this remarkable phenotypic heterogeneity of the anophthalmia/microphthalmia syndrome in individuals with an identical genetic constitution...
  4. ncbi request reprint [Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]
    J C Zenteno
    Instituto de Oftalmología Conde de Valenciana, Mexico D F, Mexico
    Arch Soc Esp Oftalmol 81:369-74. 2006
    ..To describe the clinical data and the results of molecular analyses of the TGFBI gene in a patient with classic granular stromal corneal dystrophy (type I)...
  5. ncbi request reprint Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63
    Juan Carlos Zenteno
    Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico
    Am J Med Genet A 134:74-6. 2005
    ..Based on the genotype-phenotype correlation observed in our patient, we hypothesize that integrity of the TA domain of Tp63 is critical for normal limb development...
  6. ncbi request reprint CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract
    Juan Carlos Zenteno
    Department of Genetics, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico
    Mol Vis 11:438-42. 2005
    ..To present a previously unreported four generation affected Mexican pedigree with congenital hereditary aculeiform cataract caused by a mutation in the gammaD-crystallin (CRYGD) gene...
  7. doi request reprint Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity
    David Rivera-De la Parra
    Retina Department, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico
    Gene 519:173-6. 2013
    ..The purpose of this study was to determine the molecular basis of retinitis pigmentosa (RP) in a 4 affected sib-family segregating this retinal phenotype...
  8. ncbi request reprint Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene
    Felipe Vilchis
    Department of Reproductive Biology, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Vasco de Quiroga 15, Tlalpan C P 14000, Mexico D F, Mexico
    J Hum Genet 48:346-51. 2003
    ..This disorder represents the first insertion/deletion mutation of the AR that probably arose by a slipped-strand mispairing mechanism...
  9. ncbi request reprint The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy
    Vicente Correa-Gomez
    Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Mol Vis 13:1695-700. 2007
    ..To report the clinical, molecular, and histopathological features of a distinct transforming growth factor-beta-induced (TGFBI) gene-linked amyloidotic corneal dystrophy exhibiting an unusual lattice pattern...
  10. doi request reprint Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos
    Juan Carlos Zenteno
    Faculty of Medicine, Department of Biochemistry, National Autonomous University of Mexico, Mexico City, Mexico
    Am J Med Genet A 155:1001-6. 2011
    ....
  11. doi request reprint Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa
    Margarita Matias-Florentino
    Research Unit, Institute of Ophthalmology, Conde de Valenciana, Chimalpopoca 14, Mexico City, Mexico
    Curr Eye Res 34:1050-6. 2009
    ..In the present study, a search for causal mutations in RHO and peripherin/RDS in a group of 28 Mexican RP probands with AD inheritance was performed...
  12. pmc Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations
    Juan Carlos Zenteno
    Department of Genetics, Conde de Valenciana, Mexico City, Mexico
    Mol Vis 14:1353-7. 2008
    ..To describe the first instance of genotyping in a Latin American family with Wolfram syndrome (WS)...
  13. doi request reprint Familial case of Blau syndrome associated with a CARD15/NOD2 mutation
    Cristina Villanueva-Mendoza
    Asociacion para Evitar la Ceguera en Mexico, Genetics, Mexico City, Mexico
    Ophthalmic Genet 31:155-8. 2010
    ..Blau syndrome is a rare autosomal dominant disorder characterized by early onset granulomatous arthritis, uveitis, skin rash and camptodactyly. We report a familial case of Blau syndrome associated with a CARD15/NOD2 mutation...
  14. doi request reprint Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations
    Juan Carlos Zenteno
    Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico
    Exp Eye Res 89:172-7. 2009
    ..Novel TGFBI mutations and new genotype-phenotype correlations were also recognized. This study stresses the importance of performing TGFBI genetic analysis in distinct CD populations...
  15. pmc Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex
    Juan Carlos Zenteno
    Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico
    Mol Vis 15:1794-8. 2009
    ....
  16. ncbi request reprint Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences
    Patricia Canto
    Research Unit in Developmental Biology, Hospital de Pediatria, Centro Medico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Cuauhtemoc Av 330, Col Doctores CP 06725, Mexico, DF, Mexico
    Cancer Genet Cytogenet 150:70-2. 2004
    ..Because of the high proportion (33%) of gonadal tumors in patients with Y-chromosome sequences found among our patients of mestizo origin, adequate counseling regarding a gonadectomy should be given...
  17. ncbi request reprint A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation
    Alberto Hidalgo-Bravo
    Department of Genetics, Hospital General de Mexico Facultad de Medicina, UNAM, Mexico City
    Am J Med Genet A 136:190-3. 2005
    ..Our results add to the molecular spectrum of the oto-palato-digital related syndromes and contribute to the delineation of phenotype-genotype correlation in this group of X-linked skeletal disorders...
  18. doi request reprint Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene
    Cristina Villanueva-Mendoza
    Department of Genetics, Asociacion para Evitar la Ceguera en Mexico, Mexico City, Mexico
    Ophthalmic Genet 30:45-9. 2009
    ..We report a nine year old patient with alacrima, optic atrophy and achalasia with mutation in the AAAS gene...
  19. doi request reprint 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
    Higinio Estrada
    Genetics Department, Instituto Nacional de Perinatologia, Mexico City, Mexico
    Prenat Diagn 33:205-8. 2013
    ..The aim of this study is to analyze NLRP7 mutation frequency in 20 Mexican patients with recurrent hydatidiform moles (RHMs)...
  20. ncbi request reprint PAX6 gene intragenic deletions in Mexican patients with congenital aniridia
    Arturo Ramirez-Miranda
    Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Mol Vis 12:318-23. 2006
    ..To present the results of molecular analysis of the PAX6 gene in a group of patients with congenital aniridia from Mexican mestizo origin, a previously unstudied ethnic group...
  21. doi request reprint Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico
    Juan Carlos Zenteno
    Department of Genetics Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    J Glaucoma 17:189-92. 2008
    ..In this work, the molecular analysis of the CYP1B1 gene in a group of Mexican PCG patients is reported...
  22. ncbi request reprint Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor
    Juan Carlos Zenteno
    Servicio de Genetica, Hospital General de Mexico, Facultad de Medicina, UNAM, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, D F, Mexico
    Horm Res 57:90-3. 2002
    ..Here, we studied a patients with an AIS characterized by bilateral gynecomastia, normal male external genitalia, and normal sperm counts...
  23. pmc Comparative expression analysis of aquaporin-5 (AQP5) in keratoconic and healthy corneas
    Yonathan Garfias
    Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Mol Vis 14:756-61. 2008
    ..In this study, we sought to evaluate AQP5 mRNA and protein expression in KC and non-KC corneal tissues using a combination of techniques...
  24. ncbi request reprint Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes
    Nancy Monroy
    Servicio de Genetica, Hospital General de Mexico Facultad de Medicina, UNAM, Mexico, D F, Mexico
    Am J Med Genet 107:181-9. 2002
    ....
  25. ncbi request reprint A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features
    David Rivera de la Parra
    Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Ophthalmic Genet 28:198-202. 2007
    ..The phenotype of three previously described patients with Cx43 first intracellular domain mutation is discussed and compared with that observed in our patient. This case expands the phenotypic and genotypic spectrum of ODDD...
  26. ncbi request reprint 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
    Juan Carlos Zenteno
    Department of Genetics, Hospital General de Mexico Facultad de Medicina UNAM, Dr Balmis 148, Col Doctores, 06726 Mexico City, Mexico
    Arch Gynecol Obstet 269:270-3. 2004
    ..It has been suggested that activating mutations in the anti-Müllerian hormone (AMH) or in its receptor (AMHRII) are potential sources for the defect...
  27. ncbi request reprint Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia
    Rosa E Garnica-Hayashi
    Department of Strabismus, Instituto de Oftalmologia, Fundacion Conde de Valenciana, Mexico City, Mexico
    Strabismus 15:113-7. 2007
    ..This is the first case of non-syndromic unilateral DURS associated with a contralateral major ocular malformation. This unusual clinical combination probably arose from the embryonic action of an eye-specific disruptor...
  28. ncbi request reprint Genetic services in Mexico City
    Susana Kofman-Alfaro
    Department of Genetics, General Hospital of Mexico, Faculty of Medicine, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico
    Community Genet 7:142-5. 2004
    ..We also comment on the deficiencies identified and suggest recommendations to improve the quality of the genetic services offered to the Mexican population...
  29. ncbi request reprint [Prenatal exclusion of von Hippel-Lindau syndrome in a Mexican family carrying a novel VHL gene mutation]
    Oscar Francisco Chacón-Camacho
    Unidad de Investigacion, Departamento de Genetica, Instituto de Oftalmología Conde de Valenciana, Mexico, DF
    Ginecol Obstet Mex 81:206-10. 2013
    ....
  30. ncbi request reprint A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation
    Raul Ayala-Ramirez
    Department of Retina, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico
    Mol Vis 12:1483-9. 2006
    ....
  31. ncbi request reprint Congenital absence of the breasts: a case report
    Juan Carlos Martínez-Chequer
    Unit of Medical Research in Reproductive Medicine, Department of Endocrinology and Gynecology of Luis Castelazo Ayala Hospital, Mexican Institute of Social Security, Mexico City, Mexico
    Am J Obstet Gynecol 191:372-4. 2004
    ..The current case was not associated with any known syndrome. This is the first report of congenital absence of the breasts associated with a cardiovertebral alteration and absence of axillary hair...
  32. doi request reprint Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects
    D Rivera
    Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
    Br J Ophthalmol 92:998-1002. 2008
    ....
  33. ncbi request reprint p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly
    V Berdón-Zapata
    Department of Genetics, Facultad de Medicina UNAM, Hospital General de Mexico, Dr Balmis 148, Col Doctores, CP 06726, Mexico City, Mexico
    J Orthop Res 22:1-5. 2004
    ..This finding supports the view of a clinical overlap in this group of autosomal dominant syndromes caused by p63 mutations and demonstrates that there are exceptions in the previously established p63 genotype-phenotype correlation...
  34. ncbi request reprint Nested polymerase chain reaction--not ready for gold standard status yet!
    Francisco Alvarez-Nava
    Fertil Steril 82:1471; author reply 1471-2. 2004