Publications
68. Gayan J, Gonzalez-Perez A, Ruiz A. Does replication groups scoring reduce false positive rate in SNP interaction discovery?: Response. BMC Genomics. 2010 June 24;11:403 DOI: :10.1186/1471-2164-11-403
67. Gayan J, Galan JJ, Gonzalez-Perez A, Saez ME, Martinez-Larrad MT, Zabena C, Rivero MC, Salinas A, Ramirez-Lorca R, Moron FJ, Royo JL, Moreno-Rey C, Velasco J, Carrasco JM, Molero E, Ochoa C, Ochoa MD, Gutierrez M, Reina M, Pascual R, Romo-Astorga A, Susillo-Gonzalez JL, Vazquez E, Real LM, Ruiz A, Serrano-Rios M. Genetic Structure of the Spanish Population. BMC Genomics. 2010 May 25;11:326.
66. Moreno-Luna R, Abrante A, Esteban F, Gonzalez-Moles M.A, Delgado-Rodriguez M, Saez M.E, Gonzalez-Perez A, Ramirez-Lorca R, Real L.M, Ruiz A, Calpain 10 Gene and Laryngeal Cancer:
A Survival Analysis. Head & Neck. In Press. DOI: 10.1002/hed.21404
65. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M, Bis JC, Smith AV, Carassquillo MM, Lambert JC, Harold D, Schrijvers EM, Ramirez-Lorca R, Debette S, Longstreth WT Jr, Janssens AC, Pankratz VS, Dartigues JF, Hollingworth P, Aspelund T, Hernandez I, Beiser A, Kuller LH, Koudstaal PJ, Dickson DW, Tzourio C, Abraham R, Antunez C, Du Y, Rotter JI, Aulchenko YS, Harris TB, Petersen RC, Berr C, Owen MJ, Lopez-Arrieta J, Varadarajan BN, Becker JT, Rivadeneira F, Nalls MA, Graff-Radford NR, Campion D, Auerbach S, Rice K, Hofman A, Jonsson PV, Schmidt H, Lathrop M, Mosley TH, Au R, Psaty BM, Uitterlinden AG, Farrer LA, Lumley T, Ruiz A, Williams J, Amouyel P, Younkin SG, Wolf PA, Launer LJ, Lopez OL, van Duijn CM, Breteler MM; CHARGE Consortium; GERAD1 Consortium; EADI1 Consortium. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010 May 12;303(18):1832-40.
64. Ruiz Marin M, Matilla Garcia M, Garcia Cordoba JA, Susillo Gonzalez JL, Romo Astorga A, Gonzalez Perez A, Ruiz A, Gayan J. An entropy test for single-locus genetic association analysis. BMC Genet. 2010 Mar 23;11:19.
63. Boada M, Antúnez C, López-Arrieta J,Galán J.J, Morón F.J, Hernández I, Marín J, Martínez-Lage P, Alegret M, Carrasco J.M, Moreno C, Real L.M, González-Pérez A, Tárraga L, Ruiz A. CALHM1 P86L Polymorphism is Associated with Late-Onset Alzheimer’s Disease in a Recessive Model. Journal of Alzheimer's Disease. 2010 Apr;20(1):247-51. .
62. Antúnez C, Boada M, López-Arrieta J, Ramirez-Lorca R, Hernández I, Marín J, Martínez-Lage P, González-Pérez A, Jorge Galan J, Gayán J, Real LM, Ruiz A. GOLPH2 Gene Markers are Not Associated with Alzheimer's Disease in a Sample of the Spanish Population. Journal of Alzheimer's Disease. 2009 Dec, 18(4):751-754.
61. Moron FJ, Ruiz A, Galan JJ. Genetic and genomic insights into age at natural menopause. Genome Medicine. 2009 Aug 6;1(8):76.
60
. García Rodríguez LA, Patrignani P, González-Pérez A. Risk of myocardial infarction persisting after discontinuation of non-steroidal anti-inflammatory drugs in the general population. Journal of Thrombosis and Haemostasis. 2009 May;7(5):892-4. Epub 2009 Feb 13.
59. Brocklebank D, Gayán J, Andresen JM, Roberts SA, Young AB, Snodgrass SR, Penney JB, Ramos-Arroyo MA, Cha JJ, Rosas HD, Hersch SM, Feigin A, Cherny SS, Wexler NS, Housman DE, Cardon LR; International-Venezuela Collaborative Research Group. Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications. American Journal of Medical Genetics B Neuropsychiatric Genetics. 2009 Apr 5;150B(3):425-9.
58. Rice M, Smith SD, Gayán J. Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment . Journal of Neurodevelomental Disorders. 2009; DOI 10.1007/s11689-009-9031-x.
57. Royo JL, Galán JJ. Pyrosequencing for SNP genotyping. Methods Molecular Biology. 2009;578:123-33.
56. Ramirez-Lorca R, Boada M, Sáez ME, Hernández I, Mauleón A, Rosende-Roca M, Martínez-Lage P, Gutiérrez M, Real LM, López-Arrieta J, Gayán J, Antúnez C, González-Pérez A, Tárraga L, Ruiz A. GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE e4 carriers. Journal of Health Nutrition and Aging 2009 Mar;13(3):214-9.
55. González-Pérez A, Gayán J, Marín J, Galán JJ, Sáez ME, Real LM, Antúnez C, Ruiz A. Whole-genome conditional two-locus analysis identifies novel candidate genes for late-onset Parkinson's disease. Neurogenetics. 2009. 10(3):173-81.
54. Natalia Soriano-Sarabia, PhD; Alejandro Vallejo, PhD; Reposo Ramírez-Lorca, hD; María del Mar Rodríguez; Ana Salinas; Ildefonso Pulido; María Eugenia Sáez, PhD; ManuelLeal, MD, PhD. Influence of the Toll-like receptor 9 1635A/G polymorphism on the CD4 count, HIV viral load and clinical progression. Journal of Acquired Immune Deficciency Syndrome 2008 Oct 1;49(2):128-35.
53. Hidalgo-Pascual M, Saez ME, Martinez-Tello FJ, Moron FJ, Ferrero Herrero E, Labalde Martinez M, Rigopoulou D Ballestin Carcavilla C, Ruiz A, Royo JL, Ramirez-Lorca R. Allelic Imbalance analysis of EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma. Journal of Endocrine Investigation 31:618-623, 2008.
52. Sáez ME, Grilo A, Morón Fj, Manzano L, González-Pérez A, Serrano-Hernando A, Ruiz A,Ramírez-Lorca R, Serrano-Ríos M. The peroxisome proliferator-activated receptor delta gene is associated with obesity and interacts with the calpain 5 gene to modulate the phenotype. Cardiovascular Diabetology 2008 Jul 25;7:23.
51. Gayán J, González-Pérez A, Bermudo F, Sáez ME, Royo JL, Quintas A, Galan JJ, Morón FJ, Ramirez-Lorca R, Real LM, Ruiz A.A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis. BMC Genomics. 2008 Jul 31;9:360.
50. Sáez ME, González-Sánchez JL, Ramírez-Lorca R, Martínez-Larrad MT, Zabena C, González A, Morón FJ, Ruiz A, Serrano-Ríos M. The CAPN10 gene is associated with insulin resistance phenotypes in the Spanish population. PLoS ONE. 2008 Aug 13;3(8):e2953.
49. Ramírez-Lorca R, Sáez M.E, Ruiz A. Aplicación de la Medicina genómica al síndrome de ovario poliquístico. Cuadernos de medicina reproductiva. Vol. 14, Número 2, Capítulo 3, pags. 37-51, Año 2008. Ovario poliquístico: situación actual. Editor: Dr. J. A. García-Velasco. Coordinador: Dr. Alejandro González.
48. Sáez Goñi M.E . Aspectos genéticos y moleculares del síndrome metabólico. Cuadernos de medicina reproductiva. Vol. 14, Número 2, Capitulo 2, pags. 19-35, Año 2008. Ovario poliquístico: situación actual. Editor: Dr. J. A. García-Velasco. Coordinador: Dr. Alejandro González.
47. Ruiz A. Introducción a la Medicina genómica y predictiva. Vol. 14, Número 2, Capítulo 1, pags. 9-17, Año 2008. Ovario poliquístico: situación actual. Editor: Dr. J. A. García-Velasco. Coordinador: Dr. Alejandro González.
46. Romero-Gómez M, Jover M, Galán JJ, Ruiz A. Gut ammonia production and its modulation. Metabolic Brain Disease. 2009 Mar;24(1):147-57. Epub 2008 Dec 10. Review.
45. Carretero R, Romero JM, Ruiz-Cabello F, Maleno I, Rodriguez F, Camacho FM, Real LM, Garrido F, Cabrera T. Analysis of HLA class I expression in progressing and regressing metastatic melanoma lesions after immunotherapy. Immunogenetics. 2008 Aug;60(8):439-47. Epub 2008 Jun 11.
44. Gayán J, Brocklebank D, Andresen JM, Alkorta-Aranburu G; US-Venezuela Collaborative Research Group, Zameel Cader M, Roberts SA, Cherny SS, Wexler NS, Cardon LR, Housman DE. Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds. Genetic Epidemiology. 2008 Jul;32(5):445-53.
43. Aptsiauri N, Carretero R, Garcia-Lora A, Real LM, Cabrera T, Garrido F. Regressing and progressing metastatic lesions: resistance to immunotherapy is predetermined by irreversible HLA class I antigen alterations. Cancer Immunology and Immunotherapy. 2008 Nov;57(11):1727-33. Epub 2008 May 20. Review.
42. Hidalgo M, Galan JJ, Sáez C, Ferrero E, Castilla C, Ramirez-Lorca R, Pelaez P, Ruiz A, Japón MA, Royo JL. Methylation alterations are not a major cause of PTTG1 misregulation. BMC Cancer. 2008 Apr 21;8:110.
41. Mendoza N,Morón FJ, Quereda F, Vázquez F, Rivero MC, Martínez-Astorquiza T, Real LM, Sánchez-Borrego R, González-Pérez A, Ruiz A. A Digenic Combination of Polymorphisms Within ESR1 and ESR2 Genes Are Associated With Age at Menarche in the Spanish Population. Reproductive Sciences 2008 Apr;15(3):305-11.
40. Galan JJ, Buch B, Pedrinaci S, Jimenez-Gamiz P, Gonzalez A, Serrano-Rios M, SalinasA, Rivero MC, Real LM, Royo JL, Ruiz A. Identification of a 2244 base-pair interstitial deletion within the human ESR1 gene in the Spanish Population. Journal of Medical Genetics. 2008 Jul;45(7):420-4.
39. Gonzalez-Mancha R., Galan JJ., Crespo C., Iglesias-Pérez L.,González Pérez A., Morón FJ., Moreno Nogueira JA., Real LM., Hidalgo Pascual M., Ruiz A., Royo JL. Analysis of the ERalpha germline Pvull marker in breast cancer risk. Medical Science Monitor. 2008 Mar;14(3):CR136-43.
38. María Eugenia Sáez, Manuel Romero. The genetics of nonalcoholic steatohepatitis and insulin resistance. Genetics in liver diseases. Capítulo 1, páginas 1-14. Año 2007. International Hepatology Updates. Editor: Jesús Prieto. Editor jefe: Vicente Arroyo. Permanyer publications
37. Hidalgo-Pascual M., Galan JJ., Chaves-Conde M., Ramírez-Armengol JA., Moreno C., Calvo E., Pelaez P., Crespo C., Ruiz A., Royo JL. Analysis of CXCL12 3'UTR G> A polymorphism in colorectal cancer. Oncology Report 2007 Dec;18(6):1583-7.
36. Ramirez-Lorca R., Grilo A., Martinez-Larraz MT., Manzano L., Serrano-Hernando FJ., Morn FJ., Perez-González V., González-Sánchez JL., Fresneda J., Fernández-Parrilla R., Moux G., Molero E., Sánchez E., Martínez-Calatrava MJ:, Saban-Ruiz J., Ruiz A., Saez ME., Serrano-Rios M. Sex and Body Mass Index Specific Regulation of Blood Pressure by CYP19A1 Gene Variants. Hypertension. 2007 Nov;50(5):884-90.
35. González A. Ramírez-Lorca R. Calatayud C., Mendoza N., Ruiz A., Saez M.E., Moron F.J. Association of genetic markers within the BMP15 gene with anovulation and infertility in women with polycystic ovary syndrome. Fertility and Sterility. 2007 Sep 28;
34. Moron F.J., Galan J.J., Ruiz A. Controlled ovarian hyperstimulation pharmacogenetics: a simplified model to genetically dissect estrogen-related diseases. Pharmacogenomics. 2007 Jul;8(7):775-85.
33. Royo J.L., Hidalgo M., Ruiz A. Pyrosequencing protocol using a universal biotinylated primer for mutation detection and SNP genotyping. Nature Protocols. 2007;2(7):1734-9.
32. Carmen Poves Frances, Manuel Chaves Conde, Maria Eugenia Saez, Servando Fernandez Diez, Concha Moreno Rey, Juan Andres Ramirez-Armengol, Manuel Hidalgo Pascual, Antonio Gonzalez-Perez, Pablo Pelaez Torres, Luis Miguel Real, Manuel Serrano-Rios, José Luis Garca Lopez, Agustin Ruiz, Jose Luis Royo. Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility. Journal of Gastroenterology and Hepatology. 2007 Jun 7.
31. Moron FJ, Mendoza N, Quereda F, Vazquez F, Ramirez-Lorca R, Velasco J, Gallo JL, Salinas A, Martinez-Astorquiza T, Sanchez-Borrego R, Saez ME, Ruiz A. Pyrosequencing Technology for Automated Detection of the BMP15 A180T Variant in Spanish Postmenopausal Women. Clinical Chemistry. 2007 Jun; 53: 1162-64.
30. Esteban F, Royo JL, Gonzalez-Moles MA, Gonzalez-Perez A, Redondo M, Moreno-Luna R, Rodriguez-Sola M, Gonzalez A, Real LM, Ruiz A, Ramirez-Lorca R. CAPN10 alleles modify laryngeal cancer risk in the Spanish population. European Journal of Surgical Oncology. 2007 Mar 21.
29. Galan JJ, Guarducci E, Nuti F, Gonzalez A, Ruiz M, Ruiz A, Krausz C. Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility. Human Reproduction. 2007 Feb;22(2):444-9.
28. Saez M.E., Martinez-Larraz M.T., Ramirez-Lorca R., González-Sánchez JL, Zabena C., Martínez-Calatrava M.J., González A., Morón F.J., Ruiz A., Serrano-Rios M. Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels. BMC medical genetics 2007.
27. Galan JJ, De Felici M, Buch B, Rivero MC, Segura A, Royo JL, Cruz N, Real LM, Ruiz A. Association of genetic markers within the KIT and KITLG genes with human male infertility. Human Reproduction. 2006 Dec;21(12):3185-92.
26. Royo JL, Moreno-Nogueira JA, Galan JJ, Gonzalez-Martin A, Ruiz A, Gonzalez-Mancha R, Real LM. Lack of Association Between NOS3 Glu298Asp and Breast Cancer Risk: a Case-ontrol Study. Breast Cancer Research and Treatment. 2006 Dec;100(3):331-3.
25. Gonzalez-Sanchez JL, Martinez-Larrad MT, Saez ME, Zabena C, Martinez-Calatrava MJ, Serrano-Rios M. Endothelial nitric oxide synthase haplotypes are associated with features of metabolic syndrome. Clinical Chemistry. 2007 Jan;53(1):91-7.
24. Ortiz P., Vanaclocha F., Lopez-Bran E., Esquivias J.I., Lopez Estebaranz J.L., Martin-Gonzalez M., Arrue I., Garcia-Romero D., Ochoa C., Gonzalez-Perez A., Ruiz A., Real L.M: Genetic analysis of the GRM1 gene in human melanoma susceptibility. European Journal of human Genetics 2007.
23. Saez ME, Ramirez-Lorca R, Moron FJ, Ruiz A. The therapeutic potential of the calpain family: new aspects. Drug Discovery Today. 2006 Oct;11(19-20):917-23. Review.
22. Cabrera T, Lara E, Romero JM, Maleno I, Real LM, Ruiz-Cabello F, Valero P, Camacho FM, Garrido F. HLA class I expression in metastatic melanoma correlates with tumor development during autologous vaccination. Cancer Immunology and Immunotherapy. 2006 Sep 8.
21. Conde MC, Ramirez-Lorca R, Lopez-Jamar JM, Molero E, Ramirez-Armengol JA, Moreno Nogueira JA, Pascual MH, Ruiz A, Martin-Cordova CG, Real LM, Royo JL. Genetic analysis of caveolin-1 and eNOS genes in colorectal cancer. Oncology Reports. 2006 Aug;16(2):353-9.
20. Moron FJ, de Castro F, Royo JL, Montoro L, Mira E, Saez ME, Real LM, Gonzalez A, Manes S, Ruiz A. Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS). Pharmacogenetics and Genomics. 2006 Jul;16(7):485-95.
19. Moron FJ, Mendoza N, Vazquez F, Molero E, Quereda F, Salinas A, Fontes J, Martinez-Astorquiza T, Sanchez-Borrego R, Ruiz A. Multilocus analysis of estrogen-related genes in Spanish postmenopausal women suggests an interactive role of ESR1, ESR2 and NRIP1 genes in the pathogenesis of osteoporosis. Bone. 2006 Jul;39(1):213-21.
18. Grilo A, Fernandez ML, Beltran M, Ramirez-Lorca R, Gonzalez MA, Royo JL, Gutierrez-Tous R, Moron FJ, Couto C, Serrano-Rios M, Saez ME, Ruiz A, Real LM. Genetic analysis of CAV1 gene in hypertension and metabolic syndrome. Thrombosis and Haemostasis. 2006 Apr;95(4):696-701.
17. Royo JL, Pascual MH, Salinas A, Tello FJ, Rivero Mdel C, Herrero EF, Real LM, Ruiz A. Pyrosequencing protocol requiring a unique biotinylated primer. Clinical Chemistry and Laboratory Medicine. 2006;44(4):435-41.
16. Pascual MH, Royo JL, Martinez-Tello FJ, Crespo C, Salinas A, Herrero EF, Lopez-Garcia M, Real LM, Ruiz A, Ramirez-Lorca R. Exploring allelic imbalance within paraffin-embedded tumor biopsies using pyrosequencing technology. Clinical Chemistry and Laboratory Medicine. 2006;44(9):1076-81.
15. Gonzalez A, Saez ME, Aragon MJ, Galan JJ, Vettori P, Molina L, Rubio C, Real LM, Ruiz A, Ramirez-Lorca R. Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome. Human Reproduction. 2006 Apr;21(4):943-51.
14. Mendoza N, Moron FJ, Vazquez F, Quereda F, Saez ME, Martinez-Astorquiza T, Gonzalez-Perez A, Sanchez-Borrego R, Ruiz A. Weighting the effect of CYP19A gene in bone mineral density of postmenopausal women. Bone. 2006 Jun;38(6):951-3.
13. Galan JJ, Buch B, Cruz N, Segura A, Moron FJ, Bassas L, Martinez-Pineiro L, Real LM, Ruiz A. Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology. Fertility and Sterility. 2005 Oct;84(4):910-8.
12. de Castro F, Moron FJ, Montoro L, Real LM, Ruiz A. Pharmacogenetics of controlled ovarian hyperstimulation. Pharmacogenomics. 2005 Sep;6(6):629-37. Review.
11. Caballero V, Ruiz R, Sainz JA, Cruz M, Lopez-Nevot MA, Galan JJ, Real LM, de Castro F, Lopez-Villaverde V, Ruiz A. Preliminary molecular genetic analysis of the Receptor Interacting Protein 140 (RIP140) in women affected by endometriosis. Journal of Experimental and Clinical Assisted Reproduction. 2005 Aug 30;2:11.
10. De Castro F, Moron FJ, Montoro L, Galan JJ, Real LM, Ruiz A. Re: Polymorphisms associated with circulating sex hormone levels in postmenopausal women. Journal of the National Cancer Institute. 2005 Jan 19;97(2):152-3.
9. Buch B, Galan JJ, Lara M, Real LM, Martinez-Moya M, Ruiz A. Absence of de novo Y-chromosome microdeletions in male children conceived through intracytoplasmic sperm injection. Fertility and Sterility. 2004 Dec;82(6):1679-80.
8. Fernandez ML, Ruiz R, Gonzalez MA, Ramirez-Lorca R, Couto C, Ramos A, Gutierrez-Tous R, Rivera JM, Ruiz A, Real LM, Grilo A. Association of NOS3 gene with metabolic syndrome in hypertensive patients. Thrombosis and Haemostasis. 2004 Aug;92(2):413-8.
7. de Castro F, Moron FJ, Montoro L, Galan JJ, Hernandez DP, Padilla ES, Ramirez-Lorca R, Real LM, Ruiz A. Human controlled ovarian hyperstimulation outcome is a polygenic trait. Pharmacogenetics. 2004 May;14(5):285-93.
6. Manes S, Mira E, Colomer R, Montero S, Real LM, Gomez-Mouton C, Jimenez-Baranda S, Garzon A, Lacalle RA, Harshman K, Ruiz A, Martinez-A C. CCR5 expression influences the progression of human breast cancer in a p53-dependent manner. Journal of Experimental Medicine. 2003 Nov 3;198(9):1381-9.
5. Gonzalez A, Abril E, Roca A, Aragon MJ, Figueroa MJ, Velarde P, Ruiz R, Fayez O, Galan JJ, Herreros JA, Real LM, Ruiz A. Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients. Journal of Clinical Endocrinology and Metabolism. 2003 Nov;88(11):5529-36.
4. Buch B, Galan JJ, Lara M, Ruiz R, Segura C, Real LM, Martinez-Moya M, Ruiz A.Scanning of Y-chromosome azoospermia factors loci using real-time polymerase chain reaction and melting curve analysis. Fertility and Sterility. 2003 Oct;80(4):907-13.
3. de Castro F, Ruiz R, Montoro L, Perez-Hernandez D, Sanchez-Casas Padilla E, Real LM, Ruiz A. Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone. Fertility and Sterility. 2003 Sep;80(3):571-6.
2. Gonzalez-Gomez F, Vergara F, Fernandez A, Pedrosa C, Ramirez JP, Castilla JA, Ruiz R, Galan JJ, Ruiz A, Real LM. Detection of pvull polymorphism within intron 1 of ESR1 gene by real-time PCR. Clinical Chemistry and Laboratory Medicine. 2003 Mar;41(3):392-3.
1. Gonzalez A, Abril E, Roca A, Aragon MJ, Figueroa MJ, Velarde P, Royo JL, Real LM, Ruiz A. CAPN10 alleles are associated with polycystic ovary syndrome. Journal of Clinical Endocrinology and Metabolism. 2002 Aug;87(8):3971-6.