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Page 1
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B. Matamala N, et al. Among authors: saez r. Am J Respir Cell Mol Biol. 2018 Jun;58(6):706-716. doi: 10.1165/rcmb.2017-0179OC. Am J Respir Cell Mol Biol. 2018. PMID: 29232161 Free article.
New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Gomez-Mariano G, Perez JA, Baladrón B, Torres-Durán M, Michel FJ, Saez R, Hernández-Pérez JM, Belmonte I, Rodriguez-Frias F, Blanco I, Strnad P, Janciauskiene S, Martinez-Delgado B. Matamala N, et al. Among authors: saez r. Am J Respir Cell Mol Biol. 2020 Oct;63(4):444-451. doi: 10.1165/rcmb.2020-0021OC. Am J Respir Cell Mol Biol. 2020. PMID: 32515985
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L, Ercibengoa M, Mercadillo F, Gómez-Sánchez D, Inglada-Pérez L, Santos M, Lanillos J, Gutiérrez-Abad D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez-Antona C, Perea J, Urioste M; PHTS Working Group. Pena-Couso L, et al. Orphanet J Rare Dis. 2022 Feb 28;17(1):85. doi: 10.1186/s13023-021-02079-7. Orphanet J Rare Dis. 2022. PMID: 35227301 Free PMC article.
Deletion at 6q24.2-26 predicts longer survival of high-grade serous epithelial ovarian cancer patients.
Kamieniak MM, Rico D, Milne RL, Muñoz-Repeto I, Ibáñez K, Grillo MA, Domingo S, Borrego S, Cazorla A, García-Bueno JM, Hernando S, García-Donas J, Hernández-Agudo E, Y Cajal TR, Robles-Díaz L, Márquez-Rodas I, Cusidó M, Sáez R, Lacambra-Calvet C, Osorio A, Urioste M, Cigudosa JC, Paz-Ares L, Palacios J, Benítez J, García MJ. Kamieniak MM, et al. Among authors: saez r. Mol Oncol. 2015 Feb;9(2):422-36. doi: 10.1016/j.molonc.2014.09.010. Epub 2014 Oct 5. Mol Oncol. 2015. PMID: 25454820 Free PMC article.
Phenotypic characterization of hereditary epithelial ovarian cancer based on a tissue microarray study.
Muñoz-Repeto I, García MJ, Kamieniak M, Ramón Y Cajal T, Domingo S, Cazorla A, García Donas J, Hernando Polo S, García Sagredo JM, Hernández E, Lacambra C, Saez R, Robles L, Borrego S, Prat J, Palacios J, Benítez J. Muñoz-Repeto I, et al. Among authors: saez r. Histol Histopathol. 2013 Jan;28(1):133-44. doi: 10.14670/HH-28.133. Histol Histopathol. 2013. PMID: 23233066
DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas.
Kamieniak MM, Muñoz-Repeto I, Rico D, Osorio A, Urioste M, García-Donas J, Hernando S, Robles-Díaz L, Ramón Y Cajal T, Cazorla A, Sáez R, García-Bueno JM, Domingo S, Borrego S, Palacios J, van de Wiel MA, Ylstra B, Benítez J, García MJ. Kamieniak MM, et al. Among authors: saez r. Br J Cancer. 2013 Apr 30;108(8):1732-42. doi: 10.1038/bjc.2013.141. Epub 2013 Apr 4. Br J Cancer. 2013. PMID: 23558894 Free PMC article.
The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients.
Gayarre J, Kamieniak MM, Cazorla-Jiménez A, Muñoz-Repeto I, Borrego S, García-Donas J, Hernando S, Robles-Díaz L, García-Bueno JM, Ramón Y Cajal T, Hernández-Agudo E, Heredia Soto V, Márquez-Rodas I, Echarri MJ, Lacambra-Calvet C, Sáez R, Cusidó M, Redondo A, Paz-Ares L, Hardisson D, Mendiola M, Palacios J, Benítez J, García MJ. Gayarre J, et al. Among authors: saez r. J Gynecol Oncol. 2016 Jan;27(1):e7. doi: 10.3802/jgo.2016.27.e7. Epub 2015 Nov 27. J Gynecol Oncol. 2016. PMID: 26463438 Free PMC article.
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E. Domingo-Gallego A, et al. Among authors: saez r. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
The role of the orthodontist in the diagnosis of Gorlin's syndrome.
Maroto MR, Porras JL, Saez RS, de los Rios MH, Gonzalez LB. Maroto MR, et al. Among authors: saez rs. Am J Orthod Dentofacial Orthop. 1999 Jan;115(1):89-98. doi: 10.1016/s0889-5406(99)70321-5. Am J Orthod Dentofacial Orthop. 1999. PMID: 9878963
122 results