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Marta Pineda
Marta Pineda
IDIBELL-ICO
在 iconcologia.net 的电子邮件经过验证
标题
引用次数
引用次数
年份
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
P Møller, TT Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ...
Gut 67 (7), 1306-1316, 2018
6152018
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
M Dominguez-Valentin, JR Sampson, TT Seppälä, SW Ten Broeke, ...
Genetics in Medicine 22 (1), 15-25, 2020
6122020
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
P Møller, T Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ...
Gut 66 (3), 464-472, 2017
5982017
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
BA Thompson, AB Spurdle, JP Plazzer, MS Greenblatt, K Akagi, ...
Nature genetics 46 (2), 107-115, 2014
5152014
Identification of a membrane protein, LAT-2, that co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large …
M Pineda, E Fernández, D Torrents, R Estévez, C López, M Camps, ...
Journal of Biological Chemistry 274 (28), 19738-19744, 1999
4931999
Identification and characterization of a membrane protein (y+ L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+ L: a …
D Torrents, R Estévez, M Pineda, E Fernández, J Lloberas, YB Shi, ...
Journal of Biological Chemistry 273 (49), 32437-32445, 1998
4031998
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+ AT) of rBAT
L Feliubadaló, M Font, J Purroy, F Rousaud, X Estivill, V Nunes, E Golomb, ...
Nature genetics 23 (1), 52-57, 1999
3861999
Identification of SLC7A7, encoding y+ LAT-1, as the lysinuric protein intolerance gene
D Torrents, J Mykkänen, M Pineda, L Feliubadaló, R Estévez, R Cid, ...
Nature genetics 21 (3), 293-296, 1999
3641999
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
F Bellido, M Pineda, G Aiza, R Valdés-Mas, M Navarro, DA Puente, ...
Genetics in Medicine 18 (4), 325-332, 2016
2832016
Cancer risks for PMS2-associated Lynch syndrome
W Sanne, HM van der Klift, CMJ Tops, S Aretz, I Bernstein, DD Buchanan, ...
Journal of Clinical Oncology 36 (29), 2961, 2018
217*2018
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
L Valle, E Hernandez-Illan, F Bellido, G Aiza, A Castillejo, MI Castillejo, ...
Human molecular genetics 23 (13), 3506-3512, 2014
1952014
Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc–
M Bassi, E Gasol, M Manzoni, M Pineda, M Riboni, R Martín, A Zorzano, ...
Pflügers Archiv 442 (2), 286-296, 2001
1912001
The genetics of heteromeric amino acid transporters
M Palacín, V Nunes, M Font-Llitjós, M Jiménez-Vidal, J Fort, E Gasol, ...
Physiology 20 (2), 112-124, 2005
1802005
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
P Møller, T Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ...
Gut 66 (9), 1657-1664, 2017
1612017
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ...
Human mutation 40 (9), 1557-1578, 2019
1432019
rBAT-b0,+AT heterodimer is the main apical reabsorption system for cystine in the kidney
E Fernández, M Carrascal, F Rousaud, J Abián, A Zorzano, M Palacín, ...
American Journal of Physiology-Renal Physiology 283 (3), F540-F548, 2002
1372002
Genetic predisposition to colorectal cancer: where we stand and future perspectives
L Valle
World journal of gastroenterology: WJG 20 (29), 9828, 2014
1322014
Germline mutations in FAN1 cause hereditary colorectal cancer by impairing DNA repair
N Seguí, LB Mina, C Lázaro, R Sanz-Pamplona, T Pons, M Navarro, ...
Gastroenterology 149 (3), 563-566, 2015
1262015
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
L Feliubadaló, A Lopez-Doriga, E Castellsagué, J Del Valle, M Menéndez, ...
European Journal of Human Genetics 21 (8), 864-870, 2013
1262013
Role of POLE and POLD1 in familial cancer
P Mur, S García-Mulero, J Del Valle, L Magraner-Pardo, A Vidal, ...
Genetics in Medicine 22 (12), 2089-2100, 2020
1222020
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