Zobrazeno 1 - 10
of 58
pro vyhledávání: '"J. C. Zenteno"'
Autor:
R. Villafuerte-De la Cruz, O. F. Chacon-Camacho, A. C. Rodriguez-Martinez, N. Xilotl-De Jesus, R. Arce-Gonzalez, C. Rodriguez-De la Torre, J. E. Valdez-Garcia, A. Rojas-Martinez, J. C. Zenteno
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD)
Externí odkaz:
https://doaj.org/article/0907b4bd13b540dfacbfde584d291a32
Autor:
M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, A. Cardenas-Conejo, J. C. Zenteno
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a fem
Externí odkaz:
https://doaj.org/article/d11ae94a2843476791ee20c0de042b43
Publikováno v:
Case Reports in Genetics, Vol 2011 (2011)
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH) gene cause 37% of familial HPE. A couple was referred to our unit with a family
Externí odkaz:
https://doaj.org/article/88951445bbfd403faf7b6b7a2291b2ed
Autor:
J. C. Zenteno-Suárez, A. L. Medina-Almazán, N. López-García, C. Arganis-Juárez, G. Galicia-Aguilar, M. Marín-Almazo
Publikováno v:
Volume 6B: Materials and Fabrication.
For operation of existing nuclear power plants (NPPs) beyond their design lifetime (up to 80 years), one of the main issues is the assessment of the performance of its structures, systems and components (SSC) during the period of extended operation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d49c631bb41ba4f89e66331f1d8c07a1
https://doi.org/10.1115/pvp2017-65040
https://doi.org/10.1115/pvp2017-65040
Autor:
J. C. Zenteno Suárez, C. R. Arganis Juárez, J. A. Aguilar Torres, L. Díaz Pérez, Andrés Sandoval, L. Zamora Rangel
Publikováno v:
Materials Performance and Characterization. 8:20180139
The alloys 82 and 182 have been widely used as filler metal to join austenitic stainless steel with alloy 600 by a shielded metal arc welding process in the reactor pressure vessel and pressure vessel nozzles, which are both components in boiling wat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56c1aea7037d3a1d129e940b0b63145e
https://doi.org/10.1520/mpc20180139
https://doi.org/10.1520/mpc20180139
Autor:
C, Montecinos-Contreras, H E, Sepúlveda-Vázquez, E, Pelcastre-Luna, J C, Zenteno, C, Villanueva-Mendoza
Publikováno v:
Archivos de la Sociedad Espanola de Oftalmologia. 92(4)
To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4.The proband is a 13 year-old boy who consulted for low vision. Fundus examination r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::54b94f1a1d343ac66a82ea099e5109db
https://pubmed.ncbi.nlm.nih.gov/27746066
https://pubmed.ncbi.nlm.nih.gov/27746066
Publikováno v:
Clinical Genetics. 50:152-155
A new Mexican family with the triphalangeal thumb-brachyectrodactyly syndrome is described. The proposita, a 17-year-old female, showed the classic malformation pattern: triphalangeal thumb, brachysyndactyly in the hands and ectrodactyly in the feet.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::319d9ee0769b7182e09ec9c8fa46bd5b
https://doi.org/10.1111/j.1399-0004.1996.tb02371.x
https://doi.org/10.1111/j.1399-0004.1996.tb02371.x
Autor:
J. C. Zenteno, V. Berdón-Zapata, Susana Kofman-Alfaro, M. Granillo-Álvarez, José Elías García-Ortiz, M. Valdés-Flores
Publikováno v:
Journal of Orthopaedic Research. 22:1-5
Ectrodactyly is a congenital limb malformation that involves a central reduction defect of the hands and/or feet which is frequently associated with other phenotypic abnormalities. The condition appears to be genetically heterogeneous and recently it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d55aaf117cc5ba5f17c0416f056bc734
https://doi.org/10.1016/s0736-0266(03)00166-9
https://doi.org/10.1016/s0736-0266(03)00166-9
Autor:
J. C. Zenteno
Publikováno v:
Journal of Clinical Endocrinology & Metabolism. 84:3803-3806
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2f733016f4da9ecb94961a589354b14
https://doi.org/10.1210/jc.84.10.3803
https://doi.org/10.1210/jc.84.10.3803
Publikováno v:
Fetal and Pediatric Pathology. 18:143-150
We report a stillborn female with most of the clinical, histologic, and radiographic characteristics of the short rib-polydactyly syndrome (SRPS) type IV (Beemer-Langer) but also presenting prominent metaphyseal and scapular irregularities and spikin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fb35d47e7c291c285dbab59d2b66b9d
https://doi.org/10.3109/15513819809168782
https://doi.org/10.3109/15513819809168782