Zobrazeno 1 - 10
of 33
pro vyhledávání: '"L. Arnaud-López"'
Autor:
M A, Ramírez-Hernández, L E, Figuera, L C, Rizo-de la Torre, M T Magaña-Torres S C, Mendoza-Ruvalcaba, L, Arnaud-López, J E, García-Ortiz, G M, Zúñiga-González, A M, Puebla-Pérez, B C, Gómez-Meda, M P, Gallegos-Arreola
Publikováno v:
European review for medical and pharmacological sciences. 26(14)
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which is responsible for degrading heparan and dermatan sulfate. The IDS gene is located on chromosome Xq28; path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::67145960449f0cea070337dfd4c49a88
https://pubmed.ncbi.nlm.nih.gov/35916809
https://pubmed.ncbi.nlm.nih.gov/35916809
Autor:
Lizeth Martínez-Jacobo, Kame A Galán-Huerta, Yadira X. Perez-Paramo, J.A. Nastasi-Catanese, Rocio Ortiz-Lopez, Martha M Rangel-Sosa, L.E. Figuera-Villanueva, Augusto Rojas-Martinez, Carlos Córdova-Fletes, Ana María Rivas-Estilla, I.A. González-Ramos, L. Arnaud-López
Publikováno v:
Clinical genetics. 93(6)
Splicing-related gene mutations might affect the expression of a single gene or multiple genes and cause clinically heterogeneous diseases. With the advent of next-generation sequencing, several splicing gene mutations have been exposed, yet most maj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7327d0a22f68f98a7fcd7fd16e2b1c
https://pubmed.ncbi.nlm.nih.gov/29437235
https://pubmed.ncbi.nlm.nih.gov/29437235
Publikováno v:
Clinical Genetics. 72:405-410
Patients with Crouzon and acanthosis nigricans syndrome show craniofacial features similar to those observed in patients with classic Crouzon syndrome, in addition to acanthosis nigricans with peculiar characteristics. More severe physical manifestat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e87340561b40694621396b36ea633ff6
https://doi.org/10.1111/j.1399-0004.2007.00884.x
https://doi.org/10.1111/j.1399-0004.2007.00884.x
Autor:
L. Arnaud-López, John A. Crolla, M.L. Ayala-Madrigal, J.P. Barros-Núñez, Horacio Rivera, V. Maloney
Publikováno v:
Cytogenetic and Genome Research. 114:83-88
A two-year-old boy presenting with bilateral aniridia and psychomotor retardation had a de novo (2;3;11) highly complex rearrangement which was characterized as far as possible by means of G-banding and FISH assays with multiple probes including cosm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5635439c1270c7153b07ba9661203b3e
https://doi.org/10.1159/000091933
https://doi.org/10.1159/000091933
Autor:
L. Arnaud-López, Fernando Rivas, Martha Patricia Gallegos-Arreola, Luis E. Figuera, Guillermo Moisés Zúñiga-González, Lucila Sandoval-Ramírez, R.P. Mariaud-Schmidt
Publikováno v:
European Journal of Medical Genetics. 48:29-32
Background. – The frequency of haplotypes of Nsp I– Eco 47 III sites, at the IDUA (α-L iduronidase) gene, in Huichol, Tarahumara and Mestizo Mexican population is reported. Methods. – Eco 47 III and Nsp I intragenic polymorphisms in IDUA gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a4d1795b861785fe7b42164ce61bdc1
https://doi.org/10.1016/j.ejmg.2005.01.012
https://doi.org/10.1016/j.ejmg.2005.01.012
Autor:
Sunji Thomatsu, T.S.Beltrán Jaramillo, Martha Patricia Gallegos-Arreola, L. Arnaud-López, Luis E. Figuera, Guillermo Moisés Zúñiga-González, Héctor Rangel-Villalobos
Publikováno v:
Annales de Génétique. 46:7-10
Background. – Mucopolysaccharidosis I (MPS-I) is an autosomal recessive disorder, which is caused by mutations in the IDUA gene. It induces the deficiency of glycosidase α-L-duronidase. The enzyme that is required for the degradation of heparan an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a35e19003aac1e116a262af79b77ba9
https://doi.org/10.1016/s0003-3995(03)00010-8
https://doi.org/10.1016/s0003-3995(03)00010-8
Akademický článek
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Autor:
Luis E. Figuera, Guillermo Moisés Zúñiga-González, L. Arnaud-López, R.P. Mariaud-Schmidt, Fernando Rivas, Martha Patricia Gallegos-Arreola, Lucila Sandoval-Ramírez
Publikováno v:
Annales de G�n�tique.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cfefa67551951606620e2fe784c4bc9c
https://doi.org/10.1016/j.anngen.2004.09.002
https://doi.org/10.1016/j.anngen.2004.09.002
Autor:
Belinda C. Gómez-Meda, R. Gaxiola, Martha Patricia Gallegos-Arreola, Guillermo Moisés Zúñiga-González, G. Morgan-Villela, M. R. Arechavaleta-Granell, T. J. Beltrán-Jaramillo, L. Arnaud-López
Publikováno v:
Scopus-Elsevier
Disease Markers
Disease Markers, Vol 19, Iss 6, Pp 259-261 (2004)
Disease Markers
Disease Markers, Vol 19, Iss 6, Pp 259-261 (2004)
Glutathione S-transferase (GST) is a dimeric detoxifying isoenzyme, involved in the deactivation of carcinogens, several tobacco-derived carcinogens, and xenobiotics. It catalyzes the reduction of glutathione to its thioester; thus, deficiency in GST
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8220907ac52422c9ae1b816aac8deaf9
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.