Inicio > INFANTE SANZ, MARIA DEL MAR

INFANTE SANZ, MARIA DEL MAR

PROFESOR AYUDANTE DOCTOR
Bioquímica y Biología Molecular y Fisiología
 
mariamar.infante@uva.es

Índice H en Scopus: 16
 

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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=54863]], camposKey:1479-5876 2020-01-01 A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=54949]], camposKey:2674-3248 2020-01-01 BRCA Tumor Analysis as Molecular Screening for Germline Testing17, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=56617]], camposKey:2072-6694 2020-01-01 Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=57959]], camposKey:1465-5411 2020-01-01 Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia1080, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=49918]], camposKey:0960-9776 2019-01-01 A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer9196, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=49919]], camposKey:0899-1987 2019-01-01 Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer156160, 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camposKey:0008-5472 2015-08-01 Transcontinental characterization of the Hispanic BRCA1 3450del4 breast cancer founder mutation00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40410]], camposKey:1389-9600 2015-01-01 BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study505513, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40412]], camposKey:0020-7136 2014-01-01 About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants20882097, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40411]], camposKey:1553-7390 2014-01-01 DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40413]], camposKey:1059-7794 2014-01-01 GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X5052, 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ifccomptador=40418]], camposKey:1462-8910 2013-01-01 Incidence of -93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40414]], camposKey:0143-3334 2013-01-01 The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins25052511, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40420]], camposKey:1465-542X 2012-01-01 Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes00, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40421]], camposKey:0167-6806 2012-01-01 Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer307315, 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com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40426]], camposKey:1078-0432 2010-01-01 A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients19571967, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40427]], camposKey:0009-9163 2010-01-01 BRCA1 5272-1G > A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin6069, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40425]], camposKey:0167-6806 2010-01-01 Two founder BRCA2 mutations predispose to breast cancer in young women567571, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40428]], camposKey:0959-8049 2009-01-01 A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR14851493, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40406]], camposKey:1754-2189 2007-01-01 Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes237246, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40407]], camposKey:1434-5161 2006-01-01 High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-Leon (central Spain)611617, com.sigma.fs3.argos.domain.gpc.GpcArticlesRev[id=com.sigma.fs3.argos.domain.gpc.GpcArticlesRevPK[ifcactivitat=ARE, ifccomptador=40408]], camposKey:0173-0835 2005-01-01 Rapid mutation detection in complex genes by heteroduplex analysis with capillary array 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Artículos de revista (42)

Infante M.; Arranz-Ledo M.; Lastra E.; Olaverri A.; Ferreira R.; Orozco M.; Hernandez L.; Martinez N.; Duran M. Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations . CLINICA CHIMICA ACTA 2024; 552

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Capítulos de libros (1)

Infante Sanz, Mª del Mar. Cuándo aparecieron las mutaciones que predisponen a cáncer de mama y ovario hereditario en Castilla y León . En: -. Fémina. Mujeres en la historia. -; p. 203-215


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AYUDA A LA INVESTIGACIÓN

Proyectos (13)

Estrategias tempranas de detección de cáncer gástrico hereditario mediante análisis multigénico en secuenciación masiva.. Equipo Investigadores: ENRIQUE LASTRA ARAS (IP); INFANTE SANZ, MARIA DEL MAR; DURAN DOMINGUEZ, MARIA MERCEDES; MARIA GARCIA GONZALEZ. GRS/2351/A/2021. Entidades Participantes: HOSPITAL UNIVERSITARIO DE BURGOS, UNIVERSIDAD DE VALLADOLID (UVa). 01/01/2022-31/12/2022

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Convenios/Contratos OTC (6)

ORDEN DE 08/07/2020 DE LA CONSEJERÍA DE SANIDAD DE LA JUNTA DE CASTILLA Y LEÓN POR LA QUE SE CONCEDE UNA SUBVENCIÓN DIRECTA PARA ESTUDIOS E INVESTIGACIONES EN CANCER HEREDITARIO DE MAMA, OVARIO Y COLORRECTAL.. Equipo Investigadores: ROCHER MARTIN, MARIA ASUNCION (IP). Personal Contratado: HERNANDEZ SANZ, LARA; MARTINEZ MARTIN, NOEMI; INFANTE SANZ, MARIA DEL MAR; DURAN DOMINGUEZ, MARIA MERCEDES. Entidades Participantes: UNIVERSIDAD DE VALLADOLID (UVa).. Entidades Financiadoras: JUNTA DE CASTILLA Y LEÓN .-CONSEJERÍA DE SANIDAD.. 01/11/2019

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Tesis doctorales (1)


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Congresos (12)

European Human Genetics Conference 2024, BERLIN ( ALEMANIA ) 01/06/2024 - 04/06/2024
(Póster). Mónica Arranz Ledo, Enrique Lastra Aras, Amaya Olaverri Hernández, Marta Orozco Belinchón, Enrique Pérez Riesgo, Lara Hernández Sanz, Noemy Martínez Martín, Mar Infante, Mercedes Durán. Retrospective study of non-informative BRCA1/2 families using NGS. The path towards preventive and personalized medicine
(Póster). Noemí Martínez Martín, Lara Hernández Sanz, Mónica Arranz Ledo, Enrique Lastra Aras, Mª del Mar Infante Sanz y Mercedes Durán Domínguez. Análisis de metilación del promotor del gen MLH1, en ADN de tumores con Inmunohistoquímica MLH1¿PMS2 deficiente, mediante MS¿MLPA
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Colaboración en revistas (11)

Revisor. BMC CANCER, 2023 - 2023
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Participación en tribunales (3)

. MÁSTER EN INVESTIGACIÓN BIOMÉDICA; SEC. 20/09/2024
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