Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Gema Castañeda-Cisneros"'
Autor:
José Sánchez-Corona, Sergio Alberto Ramirez-Garcia, Gema Castañeda-Cisneros, Susan Andrea Gutiérrez-Rubio, Víctor Volpini, Diana M. Sánchez-Garcia, José Elías García-Ortiz, Diana García-Cruz
Publikováno v:
Genetics and Molecular Biology, Vol 43, Iss 3 (2020)
Abstract The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cogniti
Externí odkaz:
https://doaj.org/article/7cd6f226a29645b0b2ed8a9e11f94316
Autor:
Adrián Santana-Ramirez, Felipe Farias-Serratos, José Sanchez-Corona, Gema Castañeda-Cisneros, Nadia M Farias-Serratos
Publikováno v:
Iranian Journal of Public Health, Vol 43, Iss 12 (2014)
We report an unusual case of hemimegalencephaly (HMG) associated with ipsilateral congenital-infiltrating lipomatosis of the face in a five-month-old boy. Hemimegalencephaly is a rare but unique malformation characterized by enlargement of all or par
Externí odkaz:
https://doaj.org/article/e4629ec03dc14c0799eb3c84959e7fdf
Autor:
Sergio A, Ramirez-Garcia, José, Sánchez-Corona, Víctor, Volpini-Bertran, María Cristina, Moran-Moguel, Susan A, Gutiérrez-Rubio, Gema, Castañeda-Cisneros, Javier, Jiménez-Gil, Diana, Garcia-Cruz
Publikováno v:
Actas espanolas de psiquiatria. 50(1)
Spinocerebellar ataxia type 10 (SCA10) is characteri- zed by ataxia, psychiatric disorders convulsions, and locus at 22q13.311. It is caused by expansions between 800-4500 pentanucleotide ATTCT repeats in intron 9 of the ATXN10 gene1-2. The ATXN10 ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::086a20bdad7da436e0e581a2a9929031
https://pubmed.ncbi.nlm.nih.gov/35103298
https://pubmed.ncbi.nlm.nih.gov/35103298
Autor:
Iván Cervantes-Aragón, Sergio Alberto Ramírez-García, Diana García-Cruz, Luz M. Baltazar-Rodriguez, Gema Castañeda-Cisneros
Publikováno v:
Gaceta medica de Mexico. 155(5)
The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c22cb152af56f4409d7a3bc093a7379
https://pubmed.ncbi.nlm.nih.gov/32091028
https://pubmed.ncbi.nlm.nih.gov/32091028
Autor:
Sergio Alberto Ramirez-Garcia, Diana M Sánchez-Garcia, José Sánchez-Corona, Gema Castañeda-Cisneros, Diana García-Cruz, Susan Andrea Gutierrez-Rubio, José Elías García-Ortiz, Víctor Volpini
Publikováno v:
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 43, Issue: 3, Article number: e20190325, Published: 21 AUG 2020
Genetics and Molecular Biology, Vol 43, Iss 3 (2020)
Genetics and Molecular Biology, Volume: 43, Issue: 3, Article number: e20190325, Published: 21 AUG 2020
Genetics and Molecular Biology, Vol 43, Iss 3 (2020)
The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562b5201f8010ae2ac484fcd7c813ae3
https://doi.org/10.1590/1678-4685-gmb-2019-0325
https://doi.org/10.1590/1678-4685-gmb-2019-0325
Autor:
José Elías García-Ortiz, Eunice López-Muñoz, Jose J. Toscano-Flores, Luis E. Becerra-Solano, Jorge Román Corona-Rivera, Manuel Díaz-Rodríguez, Gema Castañeda-Cisneros, Jose A. Nastasi-Catanese, María de Lourdes Ramírez-Dueñas, Luis E. Figuera
Publikováno v:
Fetal and Pediatric Pathology. 37:27-37
Background: Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. Objective: We describe six ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9bd5ef59d8357a4a90689f4d8a34324
https://doi.org/10.1080/15513815.2017.1392663
https://doi.org/10.1080/15513815.2017.1392663
Autor:
Carlos Zúñiga-Ramírez, Mariana Aurora Cansino-Torres, Michel Sáenz-Farret, Gema Castañeda-Cisneros, Gabriel Moreno, Valeria Sandoval-Rodríguez
Publikováno v:
Multiple Sclerosis and Related Disorders. 17:230-233
Autosomal dominant leukodystrophy is a neurodegenerative disorder caused by either point mutations or duplication of the lamin B1 gene on chromosome 5q23. The typical clinical picture consists of autonomic symptoms as well as cerebellar and pyramidal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43196d43a2ce6117081bc0e1a0196ee1
https://doi.org/10.1016/j.msard.2017.08.014
https://doi.org/10.1016/j.msard.2017.08.014
Autor:
Luz M. Baltazar-Rodriguez, Iván Cervantes-Aragón, Gema Castañeda-Cisneros, Sergio Alberto Ramírez-García, Diana García-Cruz
Publikováno v:
Gaceta Médica de México. 155
The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8732348084b3183617df4c49dfdf58
https://doi.org/10.24875/gmm.19004927
https://doi.org/10.24875/gmm.19004927
Autor:
Jorge Román Corona-Rivera, Mario Humberto Orozco-Gutiérrez, Gema Castañeda-Cisneros, Nory Omayra Dávalos-Rodríguez, José Sánchez-Corona, D. García-Cruz, José Elías García-Ortiz
Publikováno v:
Archivos Argentinos de Pediatria. 114
The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal prominence. We present a 12-year-old boy with anterior cervical hypertrichosis and mild generali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9922105a4c48085e49b1edde27c4cdf7
https://doi.org/10.5546/aap.2016.e314
https://doi.org/10.5546/aap.2016.e314
Autor:
Gema Castañeda-Cisneros, Xiaojing Wang, Luis E. Becerra-Solano, José Elías García-Ortiz, Charles E. Schwartz, Diane E. McCloskey, Anthony E. Pegg, José Sánchez-Corona, J. Butler
Publikováno v:
American Journal of Medical Genetics Part A. :328-335
Snyder–Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3–p22.12, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d781b96f193b220c05640162cfa240de
https://doi.org/10.1002/ajmg.a.32641
https://doi.org/10.1002/ajmg.a.32641