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BUENO MARTINEZ, ELENA

PROFESOR AYUDANTE DOCTOR
Bioquímica y Biología Molecular y Fisiología
 
elena.bueno@uva.es

Índice H en Scopus: 10
 

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Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=73053]], camposKey:1355-008X 2022-06-01 Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis86101, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=65172]], camposKey:0022-3417 2022-03-01 Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants321334, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=75559]], camposKey:2072-6694 2022-02-01 Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=60657]], camposKey:2072-6694 2021-01-01 Rad51d aberrant splicing in breast cancer: Identification of splicing regulatory elements and minigene-based evaluation of 53 dna variants28450, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=86994]], camposKey:2072-6694 2020-01-01 Comprehensive functional characterization and clinical interpretation of 20 splice-site variants of the RAD51C gene00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54972]], camposKey:0909-752X 2020-01-01 Multiple familial trichoepitheliomas: Ultrasonographic findings137139, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54973]], camposKey:1610-0379 2019-01-01 Comparative genomic hybridization analysis of basal cell carcinoma197200, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54974]], camposKey:0007-0963 2018-01-01 Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series933939, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54975]], camposKey:0303-7207 2018-01-01 Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism116, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54976]], camposKey:0007-0963 2018-01-01 Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome198206, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54977]], camposKey:0007-0963 2017-01-01 A case of mosaicism in ectodermal dysplasia¿skin fragility syndrome00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54979]], camposKey:0007-0963 2017-01-01 Familial seborrhoeic keratosis associated with multiple `pure reticulated acanthomas¿ and infundibulocystic basal cell carcinomas16541663, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54978]], camposKey:0926-9959 2017-01-01 Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54980]], camposKey:0926-9959 2016-01-01 Acral peeling skin syndrome resulting from mutations in TGM5477480, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54983]], camposKey:1769-7212 2015-01-01 A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers3538, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54984]], camposKey:0019-5154 2015-01-01 Emopamil binding protein mutation in Conradi-Hünermann-Happle syndrome representing plaque-type psoriasis00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54982]], camposKey:0303-7207 2015-01-01 Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6102112, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54981]], camposKey:1420-4096 2015-01-01 Study of the true clinical progression of autosomal dominant alport syndrome in a European population435442, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54987]], camposKey:1948-1756 2014-01-01 COL4A4 gene study of a european population: Description of new mutations causing autosomal dominant alport syndrome177184, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54985]], camposKey:0007-0963 2014-01-01 Early-onset acral basal cell carcinomas in Gorlin syndrome12271229, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, 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PUBLICACIONES

Artículos de revista (31)

Iglesias Corral, Diego; García Vallés, Paula; Arroyo Garrapucho, Nuria; Bueno Martínez, Elena; Ruíz Robles, Juan Manuel; Ovejero Sánchez, María; González Sarmiento, Rogelio; Herrero, Ana Belén. Chloroquine-induced DNA damage synergizes with DNA repair inhibitors causing cancer cell death. FRONTIERS IN ONCOLOGY 2024; 14

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Capítulos de libros (1)

Sainz, María; Sánchez, Diego; Ganfornina, María Dolores; Stolle, Azucena María; Simón, Irune; Durán, Beatriz; Cidad, Pilar; Bueno, Elena; Rojo, Jonathan; Casas, Javier; Lamus, José Francisco; Bestard, Ana; Curiel, Lucía; Hernández, Marita. Docencia basada en la evidencia. En: Alvarez Alvarez, Susana; Pinedo Gonzalez, Ruth (eds.). Innovación docente en Educación Superior: interacción, participación y colaboración. Universidad de Valladolid; 2023. p. 247-260


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Proyectos (9)

Desregulación del splicing de macroexones y microexones en genes de susceptibilidad a cáncer de mama. Equipo Investigadores: Eladio Andrés Velasco Sampedro (IP); BUENO MARTINEZ, ELENA. PI23/00047. Entidades Financiadoras: INSTITUTO DE SALUD CARLOS III. 01/01/2024-31/12/2026

Instituto de Salud Carlos III
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Otras ayudas y becas (3)

CONTRATO POSTDOCTORAL UVA BUENO MARTÍNEZ, ELENA "Regulación del splicing alternativo y exones atípicos de genes de cáncer de mama: implicaciones en la susceptibilidad a la enfermedad". MARTIN ARIAS, LUIS HERMENEGILDO (Director). BUENO MARTINEZ, ELENA (Beneficiario). 01/02/2022 - 31/01/2025. 125.705,00 EUR.

Universidad de Valladolid
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OTROS

Congresos (21)

European Human Genetics Conference 2024, BERLIN ( ALEMANIA ) 01/06/2024 - 04/06/2024
(Póster). Lara Sanoguera-Miralles, Inés Llinares-Burguet, Elena Bueno-Martínez, Lobna Ramadane-Morchadi, Cristiana Stuani, Alberto Valenzuela-Palomo, Alicia García-Álvarez, Pedro Pérez-Segura, Emanuele Buratti3, Miguel de la Hoya, Eladio A. Velasco-Sampedro. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 by hybrid minigenes
(Póster). Inés Llinares-Burguet, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alicia García-Álvarez, Eladio A. Velasco-Sampedro. Mapping of Splicing Regulatory Elements-rich intervals and identification of spliceogenic variants in ATM exon 7
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Premios (1)

L. Sanoguera Miralles; I. Llinares Burguet; E. Bueno Martínez; A. Esteban Sánchez; A. Valenzuela Palomo; A. García Álvarez; M. de la Hoya; E. A. Velasco Sampedro. . Premio a las mejores comunicaciones en formato oral del IV Congreso Interdisciplinar en Genética Humana por la comunicación ¿Caracterización funcional mediante minigenes reporteros de splicing e interpretación clínica de 52 variantes del gen CHEK2¿. Asociación Española de Genética Humana. 2023

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Proyectos de innovación docente (3)

PID-DBE Docencia basada en la evidencia (continuación). Universidad de Valladolid. 01/09/2023.
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