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

39 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA, Baños R, Rio P, Knies K, Zúñiga S, Benítez J, Bueren JA, Jaspers NG, Schärer OD, de Winter JP, Schindler D, Surrallés J. Bogliolo M, et al. Among authors: minguillon j. Am J Hum Genet. 2013 May 2;92(5):800-6. doi: 10.1016/j.ajhg.2013.04.002. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623386 Free PMC article.
Epigenetic Alterations in Fanconi Anaemia: Role in Pathophysiology and Therapeutic Potential.
Belo H, Silva G, Cardoso BA, Porto B, Minguillon J, Barbot J, Coutinho J, Casado JA, Benedito M, Saturnino H, Costa E, Bueren JA, Surralles J, Almeida A. Belo H, et al. Among authors: minguillon j. PLoS One. 2015 Oct 14;10(10):e0139740. doi: 10.1371/journal.pone.0139740. eCollection 2015. PLoS One. 2015. PMID: 26466379 Free PMC article.
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.
Hernández G, Ramírez MJ, Minguillón J, Quiles P, Ruiz de Garibay G, Aza-Carmona M, Bogliolo M, Pujol R, Prados-Carvajal R, Fernández J, García N, López A, Gutiérrez-Enríquez S, Diez O, Benítez J, Salinas M, Teulé A, Brunet J, Radice P, Peterlongo P, Schindler D, Huertas P, Puente XS, Lázaro C, Pujana MÀ, Surrallés J. Hernández G, et al. Among authors: minguillon j. Nat Commun. 2018 Mar 6;9(1):967. doi: 10.1038/s41467-018-03433-3. Nat Commun. 2018. PMID: 29511213 Free PMC article.
Chromosome fragility in the buccal epithelium in patients with Fanconi anemia.
Ramírez MJ, Minguillón J, Loveless S, Lake K, Carrasco E, Stjepanovic N, Balmaña J, Català A, Mehta PA, Surrallés J. Ramírez MJ, et al. Among authors: minguillon j. Cancer Lett. 2020 Mar 1;472:1-7. doi: 10.1016/j.canlet.2019.12.008. Epub 2019 Dec 10. Cancer Lett. 2020. PMID: 31830560
Gefitinib and Afatinib Show Potential Efficacy for Fanconi Anemia-Related Head and Neck Cancer.
Montanuy H, Martínez-Barriocanal Á, Antonio Casado J, Rovirosa L, Ramírez MJ, Nieto R, Carrascoso-Rubio C, Riera P, González A, Lerma E, Lasa A, Carreras-Puigvert J, Helleday T, Bueren JA, Arango D, Minguillón J, Surrallés J. Montanuy H, et al. Among authors: minguillon j. Clin Cancer Res. 2020 Jun 15;26(12):3044-3057. doi: 10.1158/1078-0432.CCR-19-1625. Epub 2020 Jan 31. Clin Cancer Res. 2020. PMID: 32005748 Free article.
High content drug screening for Fanconi anemia therapeutics.
Montanuy H, Camps-Fajol C, Carreras-Puigvert J, Häggblad M, Lundgren B, Aza-Carmona M, Helleday T, Minguillón J, Surrallés J. Montanuy H, et al. Among authors: minguillon j. Orphanet J Rare Dis. 2020 Jun 30;15(1):170. doi: 10.1186/s13023-020-01437-1. Orphanet J Rare Dis. 2020. PMID: 32605631 Free PMC article.
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.
Ramírez MJ, Pujol R, Trujillo-Quintero JP, Minguillón J, Bogliolo M, Río P, Navarro S, Casado JA, Badell I, Carrasco E, Balmaña J, Català A, Sevilla J, Beléndez C, Argilés B, López M, Díaz de Heredia C, Rao G, Nicoletti E, Schwartz JD, Bueren JA, Surrallés J. Ramírez MJ, et al. Among authors: minguillon j. Am J Hematol. 2021 Aug 1;96(8):989-999. doi: 10.1002/ajh.26234. Epub 2021 May 25. Am J Hematol. 2021. PMID: 33984160 Free article.
Fanconi-like anemia related to a FANCM mutation.
Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J. Encarnación JA, et al. Among authors: minguillon j. Eur J Med Genet. 2022 Jan;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15. Eur J Med Genet. 2022. PMID: 34793962
39 results