Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

83 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L, García AC, Sethi S, Brenton JW, García-Ruiz S, Fairbrother-Browne A, Gil-Martinez AL; Genomics England Research Consortium; Wood N, Hardy JA, Smedley D, Houlden H, Botía J, Ryten M. Chen Z, et al. Among authors: ibanez k. Brain. 2023 Jul 3;146(7):2869-2884. doi: 10.1093/brain/awad009. Brain. 2023. PMID: 36624280 Free PMC article.
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Fernández L, Casamayor Polo L, Bravo García-Morato M, Enguita Valls AB, Ruiz-Bravo E, Muñoz-Cabello P, Ibáñez K, Rodríguez-Laguna L, Martín-Arenas R, Ortega M, Palomares-Bralo M, Del Pozo Á, García-Guereta L, García-Miñaúr S, Lapunzina P, Vallespín E. Fernández L, et al. Among authors: ibanez k. Clin Genet. 2021 Mar;99(3):481-483. doi: 10.1111/cge.13884. Epub 2020 Nov 23. Clin Genet. 2021. PMID: 33226119 No abstract available.
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: ibanez k. 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.
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V. Rodriguez-Laguna L, et al. Among authors: ibanez k. Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15. Genet Med. 2018. PMID: 29446767 Free article.
PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.
Castro E, Romero-Laorden N, Del Pozo A, Lozano R, Medina A, Puente J, Piulats JM, Lorente D, Saez MI, Morales-Barrera R, Gonzalez-Billalabeitia E, Cendón Y, García-Carbonero I, Borrega P, Mendez Vidal MJ, Montesa A, Nombela P, Fernández-Parra E, Gonzalez Del Alba A, Villa-Guzmán JC, Ibáñez K, Rodriguez-Vida A, Magraner-Pardo L, Perez-Valderrama B, Vallespín E, Gallardo E, Vazquez S, Pritchard CC, Lapunzina P, Olmos D. Castro E, et al. Among authors: ibanez k. J Clin Oncol. 2019 Feb 20;37(6):490-503. doi: 10.1200/JCO.18.00358. Epub 2019 Jan 9. J Clin Oncol. 2019. PMID: 30625039
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Among authors: ibanez k. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
83 results