Salud Materno-Infantil y Reproducción Asistida » Investigación en Etiología, Prevención y Tratamiento de Enfermedades Genéticas
Coordinador de Grupo
María Isabel Tejada Minguez
Genetista
Responsable del Laboratorio de Genética Molecular del Servicio de Genética
Hospital Universitario Cruces
Contacto
(0034) 94 600 6000
Miembros del Grupo
Leire Andrés Álvarez
Claudio Catalli
Amagoia Elosegui Castellanos
Ainhoa García Ribes
Laura García Naveda
Nekane Ibarluzea Guenaga
Eduardo Ibañez Feijoo
Isabel Llano Rivas
Gaizka Mallabiabarrena Ormaetxea
Hiart Maortua Olabe
María Cristina Martínez Bouzas
María Jesús Martínez González
Miguel Angel Vázquez Ronco
Olatz Villate Bejarano
Líneas de Investigación
Discapacidad Intelectual.
Cáncer Hereditario.
Nuevas Terapias en la Osteogénesis Imperfecta.
Actividades del Grupo

Nuestro Grupo se caracteriza por intentar averiguar la etiología de distintas enfermedades genéticas, logrando diagnósticos más precisos que permitan avanzar en el conocimiento de su fisiopatología, en su prevención y en el desarrollo de posibles terapias específicas y con ello, mejorar la calidad de vida de los pacientes y la de sus familias.

Una característica importante que posee el grupo es la estrecha colaboración con otros grupos del Instituto de Investigación Biocruces, especialmente con el grupo que investiga con células madre, así como con otros investigadores clínicos del área de la Ginecología, de la Oncología Infantil y de la Neurología.

Las líneas de investigación desarrolladas son:

Discapacidad Intelectual:

  • Búsqueda de la etiología genética de casos con DI de causa desconocida hasta la fecha, sobre todo en el espectro del Síndrome de Rett y sus variantes, en los trastornos del espectro autista (TEA), en los posibles casos de DI ligados al cromosoma X y en Síndromes polimalformativos asociados o no a DI y/o con sintomatología neurológica asociada y otras anomalías congénitas.
  • Investigación en la causa molecular que hace que los portadores del Síndrome X Frágil presenten otras patologías asociadas –que no son de DI- como el FXTAS y el FXPOI, aunque sólo en un porcentaje de los casos, sin saber a fecha de hoy por qué unos sí y otros no.

Cáncer Hereditario

El objetivo general del grupo es poder establecer las anomalías genéticas que puedan explicar la amplia historia familiar de cáncer en los pacientes donde la búsqueda de mutaciones en los genes de predisposición conocidos no ha arrojado ninguna información. Además de identificar otros posibles grupos de cánceres asociados a los genes de predisposición al cáncer de mama \ ovario y cáncer de colon no polipósico.

Nuevas Terapias en la Osteogénesis Imperfecta

El objetivo general es desarrollar tratamientos alternativos para niños afectos de osteogénesis imperfecta grave debidos a mutaciones en los genes COL1A1/COL1A2, con el fin de aumentar la producción de colágeno normal y atenuar el curso natural se la enfermedad caracterizada por numerosas fracturas espontáneas (o ante mínimos traumatismos), la deformidad ósea, y los problemas de crecimiento.

 

Publicaciones Científicas

Axpe IR, Martin EB, Ribes AG, Bermejo-Ramirez R, Andujar DA. Sensory-motor neuropathy in a case with SPG35: Expanding the phenotype. J Neurol Sci. 2017;380:98-100. FI:2,295(Q3). DOI:10.1016/j.jns.2017.05.054.

Balhuizen A, Massa S, Mathijs I, Turatsinze JV, De Vos J, Demine S, et al. A nanobody-based tracer targeting DPP6 for non-invasive imaging of human pancreatic endocrine cells. Sci Rep. 2017;7:15130. FI:4,259(Q1). DOI:10.1038/s41598-017-15417-2.

Garcia-Ariza M, Lopez-Almaraz R, Echebarria Barona A, Adan Pedroso R, Ojinaga Nino I, Ricondo De Diego A, et al. Experience of the Management of Central Nervous System Tumors in Children Younger than 5 Years-Old in the Last 15 Years. Pediatr Blood Cancer. 2017;64:304. FI:2,513(Q1). ABSTRACT.

Gonzalez-Quereda L, Rodriguez M, Nascimento A, Ortez C, Jou C, Milisenda J, et el. Two different NGS approaches to address molecular diagnosis of congenital neuromuscular diseases. Neuromusc Disord. 2017;27:197. FI:2,969(Q2). DOI:10.1016/j.nmd.2017.06.375. ABSTRACT

Luna S, Mingo J, Amo L, Rodriguez-Escudero I, Erramuzpe A, Molina M, et al. Readthrough response of pathogenic premature termination codons at PTEN gene: implications in precision therapy for PHTS patients. Ann Oncol. 2017;28:18. FI:11,855(Q1). ABSTRACT

Martinez-Castrillo JC, Pena-Segura JL, Sanz-Cartagena P, Alonso-Curco X, Arbelo-Gonzalez JM, Arriola-Pereda G, et al. Myths and evidence on the use of botulinum toxin: spasticity in adults and in children with cerebral palsy. Rev Neurologia. 2017;64:459-70. FI:0,743(Q4).

Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindstrom S, et al. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genet. 2017;49:1767. FI:27,959(Q1). DOI:10.1038/ng.3785.

Natera-de Benito D, Topf A, Vilchez JJ, Gonzalez-Quereda L, Dominguez-Carral J, Diaz-Manera J, et al. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromusc Disord. 2017;27:1087-98. FI:2,969(Q2). DOI:10.1016/j.nmd.2017.08.003.

Sanmartín E, Ortiz-Martínez F, Pomares-Navarro E, García-Martínez A, Rodrigo-Baños M, García-Escolano M. CD44 induces FOXP3 expression and is related with favorable outcome in breast carcinoma. Virchows Arch. 2017;470:81-90. FI:2,848(Q2). DOI:10.1007/s00428-016-2045-3.

Villaverde VC, Vadillo MG, Gonzalez LM, Benito VV, Camin MS, Alvarez LA, et al. Chondromyxoid fibroma: Report of three cases. Virchows Arch. 2017;471:260-1. FI:2,848(Q2). ABSTRACT

Villaverde VC, Vadillo MG, Gonzalez LM, Camin MS, Benito VV, Alvarez LA, et al. Pancreatic mx diagnosis of Clear Renal Cell Carcinoma (CRCC) by fnab-eus-guided: Review of 2 cases. Virchows Arch. 2017;471:310. FI:2,848(Q2). ABSTRACT

Zaldumbide L, Fernandez-Lomana E, Atienza M, Nogueira A, Marcos A, de Casasola GG, et al. Infantile desmoplastic ganglioglioma, a case report. Virchows Arch. 2017;471:221. FI:2,848(Q2). ABSTRACT

Andrés L, Caamaño V, Fernández Lomana EM, Atienza M, Nogueira A. Atypical endometriosis: a clinicopathological study of 6 cases. Virchows Arch. 2016;469:276. FI:2,848(Q2). ABSTRACT

Calmels N, Greff G, Obringer C, Kempf F, Gasnier C, Tarabeux J, et al. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. Orphanet J Rare Dis. 2016;11:26. FI:3,507(Q2). DOI:10.1186/s13023-016-0408-0.

Del Orbe Barreto R, Arrizabalaga B, de la Hoz AB, Aragües P, Garcia-Ruiz JC, Arrieta A, et al. Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation. Int J Lab Hematol. 2016;38:e27-9. FI:2,030(Q3). DOI:10.1111/ijlh.12455.

Del Orbe Barreto R, Arrizabalaga B, De la Hoz AB, García-Orad Á, Tejada MI, Garcia-Ruiz JC, et al. Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing. Int J Lab Hematol. 2016;38:629-38. FI:2,030(Q3). DOI:10.1111/ijlh.12551.

Del Orbe Barreto R, Arrizabalaga B, De la Hoz Rastrollo AB, García-Orad A, Gonzalez Vallejo I, Bento C, et al. Hereditary xerocytosis, a misleading anemia.Ann Hematol. 2016;95:1545-6. FI:3,083(Q2). DOI:10.1007/s00277-016-2716-9.

Del Orbe R, Arrizabalaga B, De la Hoz A, Martin X, Garcia-Orad A, Molina J, et al. Identification of two new mutations in the gene of the anchirine causes of hereditary spherocytosis. Haematologica. 2016;101:260. FI:7,702(Q1). ABSTRACT

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, et al. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am J Med Genet A. 2016;170:3069-82. FI:2,259(Q3). DOI:10.1002/ajmg.a.37940.

Hirata Y, Brems H, Suzuki M, Kanamori M, Okada M, Morita R, et al. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1. J Biol Chem. 2016;291:3124-34. FI:4,125(Q2). DOI:10.1074/jbc.M115.703710.

Merino S, Ibarluzea N, Maortua H, Prieto B, Rouco I, López-Aríztegui MA, et al. Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study. Genes (Basel). 2016;7.pii: E90. FI:3,600(Q2). DOI:10.3390/genes7100090.

Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, et al. . Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. Neuromuscul Disord. 2016;26:153-9. FI:2,969(Q2). DOI:10.1016/j.nmd.2015.10.013.

Rubio I, Ibanez-Feijoo E, Andres L, Aguirre E, Balmana J, Blay P, et al. Analysis of Lynch Syndrome Mismatch Repair Genes on Women with Endometrial Cancer. Oncology. 2016;91:171-6. FI:2,262(Q3). DOI:10.1159/000447972.

Schönewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, Gauthier J, Brøndum-Nielsen K, et al. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome .Clin Genet. 2016;89:733-8. FI:3,326(Q2). DOI:10.1111/cge.12769.

Ancin I, Landeta E, Amarika I, Maruri N, Olivares N, Rinon M, et al. Babies with acute leukemia of ambigious lineage and T (4;11) (Q21;Q23)/ MLL-AF4 rearrangement. Haematologica. 2015;100:237-238. FI:6,671(Q1). ABSTRACT

Aristizabal A, Merino S, Catediano E, Sasieta M, Araguees P, Navajas A. Clinical consequences of alpha-thalassemia in the basque country, Spain. Impact of neonatal screening. An Pediatr. 2015;83:85-88. FI:0,773(Q4). DOI:10.1016/j.anpedi.2014.10.014.

Bauer M, Koelsch U, Krueger R, Unterwalder N, Hameister K, Kaiser FM, et al. Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome. J Clin Immunol. 2015;35:168-181. FI:3,094(Q2). DOI:10.1007/s10875-015-0129-5.

Codina-Sola M, Rodriguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Lain G, et al. Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. Mol Autism. 2015;6:21. FI:4,961(Q1). DOI:10.1186/s13229-015-0017-0.

Crow YJ, Chase DS, Schmidt JL, Szynkiewicz M, Forte GMA, Gornall HL, et al. Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015;167:296-312. FI:2,082(Q3). DOI:10.1002/ajmg.a.36887.

Del Orbe R, Arrizabalaga B, De la Hoz AB, Tejada I, Araguees P, Silva C, et al. The ``next generation sequencing'' utility in the optimization of the diagnosis of the congenital hemoliticas anemia. Haematologica. 2015;100:1-2. FI:6,671(Q1). ABSTRACT

Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, et al. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Hum Mutat. 2015;36:1197-1204. FI:5,089(Q1). DOI:10.1002/humu.22901.

Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, et al. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet. 2015;47:164-171. FI:31,616(Q1). DOI:10.1038/ng.3185.

Martinez-Fernandez ML, Fernandez-Toral J, Llano-Rivas I, Bermejo-Sanchez E, MacDonald A, Martinez-Frias, ML. Delineation of the Clinically Recognizable 17q22 Contiguous Gene Deletion Syndrome in a Patient Carrying the Smallest Microdeletion Known to Date. Am J Med Genet A. 2015;167:2034-2041. FI:2,082(Q3). DOI:10.1002/ajmg.a.37117.

Ortiz-Martinez F, Sanmartin E, Pomares-Navarro E, Perez-Balaguer A, Andres L, Sanchez-Paya J, et al. Osteopontin Regulates VEGFA and ICAM-1 mRNA Expression in Breast Carcinoma. Am J Clin Pathol. 2015;143:812-822. FI:2,278(Q2). DOI:10.1309/AJCP6F2VNDAMSULA.

Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, et al. Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. Cancer Epidem Biomar. 2015;24:308-316. FI:3,622(Q1). DOI:10.1158/1055-9965.EPI-14-0532.

Pomares-Navarro E, Perez-Balaguer A, Sanmartin E, Ortiz F, Andres L, Ponce J, et al. Hedgehog Signaling in Immunophenotypes of Breast Carcinoma: A Gene Expression and Clinicalpathological Study. Lab Invest. 2015;95:61. FI:4,202(Q1). ABSTRACT

Pomares-Navarro E, Perez-Balaguer A, Sanmartin E, Ortiz-Martinez F, Andres L, Ponce J, et al. Hedgehog Signaling in Immunophenotypes of Breast Carcinoma: A Gene Expression and Clinicalpathological Study. Modern Pathol. 2015;28:61. FI:5,485(Q1). ABSTRACT

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, et al. Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer. Jama-J Am Med Assoc. 2015;313:1347-1361. FI:37,684(Q1). DOI:10.1001/jama.2014.5985.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, et al. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015;36:1052-1063. FI:5,089(Q1). DOI:10.1002/humu.22832.

Rueda JR, Guillen V, Ballesteros J, Tejada MI, Sola I. L-acetylcarnitine for treating fragile X syndrome. Cochrane Database Syst Rev. 2015;5:CD010012. FI:6,032(Q1). DOI:10.1002/14651858.CD010012.pub2.

Sanmartin E, Ortiz-Martinez F, Pomares-Navarro E, Andres L, Ponce J, Ballester H, et al. CD44 Is Associated With FOXP3 Expression and Favorable Outcome in Patients with Breast Carcinoma. Lab Invest. 2015;95:64. FI:4,202(Q1). ABSTRACT

Sanmartin E, Ortiz-Martinez F, Pomares-Navarro E, Andres L, Ponce J, Ballester H, et al. CD44 Is Associated With FOXP3 Expression and Favorable Outcome in Patients with Breast Carcinoma. Modern Pathol. 2015;28:64. FI:5,485(Q1). ABSTRACT

Armangue T, Leypoldt F, Málaga I, Raspall-Chaure M, Marti I, Nichter C, et al. Herpes simplex virus encephalitis is a trigger of brain autoimmunity. Ann Neurol. 2014;75:317-23. FI: 9,977(Q1)

Astigarraga I, Garcia-Ariza M, Echebarria A, Echevarria-Ecenarro J, Martinez-Fernandez R, Adan R, et al. Multidisciplinary approach and visual acuity in treated cases of optic pathway gliomas. Pediatr Blood Cancer. 2014;61:279-80. FI: 2,386(Q1)

Astigarraga I, Olabarrieta N, Martinez-Gonzalez MJ, Garcia-Obregon S, Gonzalez-Hermosa MR, Zaldumbide L, et al. Central nervous system involvement at the onset of griscelli syndrome type-2. Pediatr Blood Cancer. 2014;61:2130. FI: 2,386(Q1)

Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Teresa-Rodrigo ME, Obieglo C, Gener B, et al. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clin Genet. 2014;86:595-7. FI: 3,931(Q2)

Gonzalez Vadillo M, Corominas Cishek A, Cerda Hernandez N, Caamano Villaverde V, Andueza Otsoa E, Andres L, et al. Adenomatoid tumour of the genital tract: a retrospective review of 18 cases. Virchows Arch. 2014;465:346. FI: 2,651(Q2)

Lafuente-Hidalgo M, García Besteiro M, Acedo Alonso Y, López Aríztegui MA, Navajas Gutierrez A. Revisión de cavernomatosis múltiple: a propósito de una familia. An Pediatr (Barc). 2014;81:e52-4 . FI: 0,833(Q4)

Milá M, Ramos F, Tejada Mínguez I. Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome. Med Clin (Barc). 2014;142:219-25. FI: 1,417(Q2)

Ortiz-Martínez F, Perez-Balaguer A, Ciprián D, Andrés L, Ponce J, Adrover E, et al. Association of increased osteopontin and splice variant-c mRNA expression with HER2 and triple-negative/basal-like breast carcinomas subtypes and recurrence. Hum Pathol. 2014;45:504-12. FI: 2,769(Q2)

Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, et al. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. PLoS Genet. 2014;10:e1004256 . FI: 7,528(Q1)

Pangrazio A, Puddu A, Oppo M, Valentini M, Zammataro L, Vellodi A, et al. Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. Bone. 2014;59: 122126. FI: 3,973(Q2)

Pereda A, Azriel S, Bonet M, Garin I, Gener B, Lecumberri B, et al. Pseudohypoparathyroidism vs. tricho-rhinophalangeal syndrome: patient reclassification. J. Pediatr Endocrinol Metab. 2014;27:1089-94. FI: 0,995(Q4)

Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada MI, et al. Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). J Neurodev Disord. 2014;6:26 . FI: 3,268(Q2)

Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nature Genet. 2014;46:385-8. FI: 29,352(Q1)

Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, et al. Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families-Performed in 12 Clinical Laboratories in Spain. Biomed Res Int. 2014;2014:195793. FI: 1,579(Q3)

Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, et al. A New Overgrowth Syndrome is due to Mutations in RNF125. Hum Mutat. 2014;35:1436-41. FI: 5,144(Q1)

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y,et al. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22:5121-35. FI: 7,692(Q1)

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, et al. Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013;12:1159-69. FI: 23,917(Q1)

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet. 2013;84:539-45. FI: 4,247(Q1)

Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, et al. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins. Carcinogenesis. 2013;34:2505-11. FI: 5,635(Q1)

Ortiz-Martínez F, Perez-Balaguer A, Ciprián D, Andrés L, Ponce J, Adrover E, et al. Association of increased osteopontin and splice variant-c mRNA expression with HER2 and triple-negative/basal-like breast carcinomas subtypes and recurrence. Hum Pathol. 2013; -0. FI: 2,843(Q1)

Pereda A, Garin I, Garcia-Barcina M, Gener B, Beristain E, Ibañez AM, et al. Brachydactyly E: isolated or as a feature of a syndrome. Orphanet J Rare Dis. 2013;8:141. FI: 4,315(Q1)

McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, et al. Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60. Am J Hum Genet. 2013;93:515-23. FI: 11,202(Q1)

Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR,  et al. MECP2 Gene Study in a Large Cohort Testing of 240 Female Patients and 861 Healthy Controls (519 Females and 342 Males). J Mol Diagn. 2013;15:723-9. FI: 3,952(Q1)

Plaja A, Lloveras E, Martinez-Bouzas C, Barreña B, Campo MD, Fernández A, et al. Trisomy 18p Caused by a Supernumerary Marker With a Chromosome 13/21 Centromere: A Possible Recurrent Chromosome Aberration. Am J Med Genet A. 2013;161:2363-8. FI: 2,304(Q3)

Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, et al. Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi-Goutieres Syndrome. Hum Mutat. 2013;34:1066-70. FI: 5,213(Q1)

Cerda N, Perez A, Muniz G, Corominas-Cishek A, Caamano V, Gonzalez M, et al. Metaplastic breast carcinoma: Cruces University Hospital experience. Virchows Arch. 2013;463:266. FI: 2,676(Q2). (Meeting Abstract)

Caamano Villaverde V, Saiz Camin M, Corominas Cishek A, Muniz Unamunzaga G, Perez Zabala A, Andres Alvarez L. Pleomorphic uterine leiomyosarcoma with heterologous chondrosarcomatous differentiation: A case report. Virchows Arch. 2013;463:309. FI: 2,676(Q2). (Meeting Abstract)

Milá M, Ramos F, Tejada Mínguez I. Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome. Med Clin. 2013; -0. FI: 1,399(Q2)

Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, et al. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases. PLoS One. 2013;8: -0. FI: 3,730(Q1)

Portillo I, Idigoras I, Ojembarrena E, Arana-Arri E, Zubero MI, Pijoan JI, et al. Main results of the colorectal cancer screening program in the Basque Country (Spain). Gac Sanit. 2013;27:358-61. FI: 1,116(Q3)

Tejada MI, Maortua H, Mendoza R, Prieto B, Martinez-Bouzas C, Diez-Zapirain M, et al. Study of triple CGG repeats (FMR1 gene) in 41 patients with a reduced ovarian response to gonadotropin stimulation: no correlation found with four ovarian parameters. Hum Reprod. 2013;28:241-2. FI: 4,670(Q1). (Meeting Abstract)

Portillo I, Idigoras I, Ojembarrena E, Arana E, Hurtado JL, Basurko R, et al. Lesions detected in a colorectal cancer screening program in the Basque Country: first round (2009-2011). Gastroenterol Hepatol. 2013;36:301-8. FI: 0,567(Q4)

Moretó M, Ojembarrena E, Barturen A, Casado I. Treatment of Achalasia by Injection of Sclerosant Substances: A Long-Term Report. Dig Dis Sci. 2013;58:788-96. FI: 2,260(Q2)

Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, et al. LRIG2 Mutations Cause Urofacial Syndrome. Am  J Hum Genet. 2013;92:259-64. FI: 11,202(Q1)

Larrinaga G, Blanco L, Errarte P, Beitia M, Sanz B, Perez I, et al. Altered Peptidase Activities in Thyroid Neoplasia and Hyperplasia. Dis Markers. 2013;35:825-32. FI: 2,140(Q2)

Tesis