Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Pestaña, Ángel"'
Autor:
Lázcoz, Paula, Muñoz, Jorge, Nistal, Manuel, Pestaña, Ángel, Encío, Ignacio J., Castresana, Javier S.
Publikováno v:
In Cancer Genetics and Cytogenetics 2007 174(1):1-8
Autor:
Alonso, Javier, Palacios, Itziar, Gámez, Ángelo, Camino, Isabel, Frayle, Helena, Menéndez, Ibis, Kontic, Milica, García-Miguel, Purificación, Sastre, Ana, Abelairas, José, Sarret, Enric, Sabado, Constantino, Navajas, Aurora, Artigas, Mercé, Indiano, José M., Carbone, Ana, Rosell, Jordi, Pestaña, Ángel
Publikováno v:
In Medicina Clinica 2006 126(11):401-405
Publikováno v:
Science, 1971 Oct 01. 174(4005), 142-144.
Externí odkaz:
https://www.jstor.org/stable/1732593
Publikováno v:
BMC Cancer, Vol 6, Iss 1, p 254 (2006)
Abstract Background Epigenetic alterations and loss of heterozygosity are mechanisms of tumor suppressor gene inactivation. A new carcinogenic pathway, targeting the RAS effectors has recently been documented. RASSF1A, on 3p21.3, and NORE1A, on 1q32.
Externí odkaz:
https://doaj.org/article/82406de0a883486d9f642e44eccce820
Publikováno v:
BMC Genetics, Vol 6, Iss 1, p 53 (2005)
Abstract Background Retinoblastoma, a prototype of hereditary cancer, is the most common intraocular tumour in children and potential cause of blindness from therapeutic eye ablation, second tumours in germ line carrier's survivors, and even death wh
Externí odkaz:
https://doaj.org/article/7a44146297e54b1bafb009358f72cea3
Autor:
Alonso, Javier, Frayle, Helena, Menéndez, Ibis, López, Andres, Palacios, Itziar, Pestaña, Ángel
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Constitutional mutations in the RB1 gene predispose to retinoblastoma development. Hence genetic screening of retinoblastoma patients and relatives is important for genetic counseling purposes. In addition, RB1 gene mutation studies may help decipher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f260511954c7d6f7ef3755b26b47282
http://hdl.handle.net/10261/81188
http://hdl.handle.net/10261/81188
Autor:
Alonso, Javier, Menéndez, Ibis, López, Andres, Frayle, Helena, Ruisánchez, Nora, Pestaña, Ángel
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
5 pages, 2 figures.
We report the presence of a hemizygous inactivating germ-line RB1 mutation (a recurrent g.78250C-->T transition, resulting in a stop codon in exon 17) in peripheral blood DNA from a patient with hereditary bilateral retinobla
We report the presence of a hemizygous inactivating germ-line RB1 mutation (a recurrent g.78250C-->T transition, resulting in a stop codon in exon 17) in peripheral blood DNA from a patient with hereditary bilateral retinobla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e23665dae0cdfeb3983f2ae89ab4ba53
http://hdl.handle.net/10261/24565
http://hdl.handle.net/10261/24565
Fecha de solicitud:01.11.2003.- Titular: Consejo Superior de Investigaciones Científicas (CSIC).
[EN]The set of five polymorphisms of a retinoblastoma gene nucleotide comprises agents for use as genetic markers of the gene RB1. The agents also
[EN]The set of five polymorphisms of a retinoblastoma gene nucleotide comprises agents for use as genetic markers of the gene RB1. The agents also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1106::c9bb5f088492a768307b539cbfbaf54a
http://hdl.handle.net/10261/31339
http://hdl.handle.net/10261/31339
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Fecha de solicitud:01.11.2003.- Titular: Consejo Superior de Investigaciones Científicas (CSIC). [EN]The set of five polymorphisms of a retinoblastoma gene nucleotide comprises agents for use as genetic markers of the gene RB1. The agents also mark
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::c9bb5f088492a768307b539cbfbaf54a
http://hdl.handle.net/10261/31339
http://hdl.handle.net/10261/31339
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Mutation analysis of retinoblastoma is considered important for genetic counseling purposes, as well as for understanding the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of an analysis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8e7e0b45ac63f81ccb62c7e889e8856c
http://hdl.handle.net/10261/79895
http://hdl.handle.net/10261/79895