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Items: 15

1.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

2.

A Probabilistic Model for Cushing's Syndrome Screening in At-Risk Populations: A Prospective Multicenter Study.

León-Justel A, Madrazo-Atutxa A, Alvarez-Rios AI, Infantes-Fontán R, Garcia-Arnés JA, Lillo-Muñoz JA, Aulinas A, Urgell-Rull E, Boronat M, Sánchez-de-Abajo A, Fajardo-Montañana C, Ortuño-Alonso M, Salinas-Vert I, Granada ML, Cano DA, Leal-Cerro A; Spanish CRISALIDA Study Group.

J Clin Endocrinol Metab. 2016 Oct;101(10):3747-3754. Epub 2016 Aug 4.

PMID:
27490917
3.

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.

Ruiz de Garibay G, Gutiérrez-Enríquez S, Garre P, Bonache S, Romero A, Palomo L, Sánchez de Abajo A, Benítez J, Balmaña J, Pérez-Segura P, Díaz-Rubio E, Díez O, Caldés T, de la Hoya M.

Breast Cancer Res Treat. 2012 May;133(1):273-83. doi: 10.1007/s10549-011-1909-0. Epub 2012 Mar 21. Review.

PMID:
22434521
4.

Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.

Giráldez MD, Balaguer F, Caldés T, Sanchez-de-Abajo A, Gómez-Fernández N, Ruiz-Ponte C, Muñoz J, Garre P, Gonzalo V, Moreira L, Ocaña T, Clofent J, Carracedo A, Andreu M, Jover R, Llor X, Castells A, Castellví-Bel S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Fam Cancer. 2009;8(4):525-31. doi: 10.1007/s10689-009-9282-4. Epub 2009 Aug 15.

PMID:
19685280
5.

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.

Milne RL, Osorio A, Cajal TR, Vega A, Llort G, de la Hoya M, Díez O, Alonso MC, Lazaro C, Blanco I, Sánchez-de-Abajo A, Caldés T, Blanco A, Graña B, Durán M, Velasco E, Chirivella I, Cardeñosa EE, Tejada MI, Beristain E, Miramar MD, Calvo MT, Martínez E, Guillén C, Salazar R, San Román C, Antoniou AC, Urioste M, Benítez J.

Clin Cancer Res. 2008 May 1;14(9):2861-9. doi: 10.1158/1078-0432.CCR-07-4436.

6.

Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways.

Sánchez-de-Abajo A, de la Hoya M, van Puijenbroek M, Tosar A, López-Asenjo JA, Díaz-Rubio E, Morreau H, Caldes T.

Clin Cancer Res. 2007 Oct 1;13(19):5729-35.

7.

Molecular haplotyping of tandem single nucleotide polymorphisms by allele-specific PCR.

Cañadas C, Sánchez-de-Abajo A, Fernández JM, Martín M, Diaz-Rubio E, Caldés T, de la Hoya M.

Anal Biochem. 2007 May 15;364(2):153-8. Epub 2007 Mar 3.

PMID:
17399677
8.

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

Gutiérrez-Enríquez S, de la Hoya M, Martínez-Bouzas C, Sanchez de Abajo A, Ramón y Cajal T, Llort G, Blanco I, Beristain E, Díaz-Rubio E, Alonso C, Tejada MI, Caldés T, Diez O.

Breast Cancer Res Treat. 2007 May;103(1):103-7. Epub 2006 Oct 25.

PMID:
17063271
9.

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

de la Hoya M, Gutiérrez-Enríquez S, Velasco E, Osorio A, Sanchez de Abajo A, Vega A, Salazar R, Esteban E, Llort G, Gonzalez-Sarmiento R, Carracedo A, Benítez J, Miner C, Díez O, Díaz-Rubio E, Caldes T.

Clin Chem. 2006 Aug;52(8):1480-5. Epub 2006 Jun 22.

10.

Increased frequency of disease-causing MYH mutations in colon cancer families.

Peterlongo P, Mitra N, Sanchez de Abajo A, de la Hoya M, Bassi C, Bertario L, Radice P, Glogowski E, Nafa K, Caldes T, Offit K, Ellis NA.

Carcinogenesis. 2006 Nov;27(11):2243-9. Epub 2006 Jun 14.

PMID:
16774938
11.

Lack of germ-line mutations at the specific BRCA1-IRIS coding sequence in 114 Spanish high-risk breast/ovarian families.

de la Hoya M, Fernández JM, Sánchez de Abajo A, Tosar A, Díaz-Rubio E, Caldés T.

Fam Cancer. 2005;4(4):317-9.

PMID:
16341810
12.

Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer?

Sanchez de Abajo A, de la Hoya M, van Puijenbroek M, Godino J, Díaz-Rubio E, Morreau H, Caldes T.

Oncogene. 2006 Mar 30;25(14):2124-30.

PMID:
16288214
13.

Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.

Sánchez de Abajo A, de la Hoya M, Tosar A, Godino J, Fernández JM, Asenjo JL, Villamil BP, Segura PP, Diaz-Rubio E, Caldes T.

World J Gastroenterol. 2005 Oct 7;11(37):5770-6.

14.

The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families.

Sánchez de Abajo A, de la Hoya M, Godino J, Furió V, Tosar A, Pérez-Segura P, Díaz-Rubio E, Caldés T.

Fam Cancer. 2005;4(2):183-6.

PMID:
15951971
15.

Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer, or both.

de la Hoya M, Fernández JM, Tosar A, Godino J, Sánchez de Abajo A, Vidart JA, Pérez-Segura P, Díaz-Rubio E, Caldés T.

JAMA. 2003 Aug 20;290(7):929-31.

PMID:
12928470

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