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Year Number of Results
1990 1
1992 1
1994 2
1995 3
1996 4
1997 7
1998 4
1999 5
2000 5
2001 1
2002 6
2003 5
2004 6
2005 3
2006 4
2007 8
2008 6
2009 2
2010 3
2011 6
2012 2
2013 3
2014 3
2015 7
2017 5
2018 9
2019 8
2020 7
2021 9
2022 7
2023 3
2024 4
2025 1

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138 results

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Page 1
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Webster ALH, et al. Among authors: surralles j. Nature. 2022 Dec;612(7940):495-502. doi: 10.1038/s41586-022-05253-4. Epub 2022 Nov 30. Nature. 2022. PMID: 36450981 Free PMC article.
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J. Castella M, et al. Among authors: surralles j. Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27. Blood. 2011. PMID: 21273304 Free PMC article.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: surralles j. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia.
Lasaga M, Río P, Vilas-Zornoza A, Planell N, Navarro S, Alignani D, Fernández-Varas B, Mouzo D, Zubicaray J, Pujol RM, Nicoletti E, Schwartz JD, Sevilla J, Ainciburi M, Ullate-Agote A, Surrallés J, Perona R, Sastre L, Prosper F, Gomez-Cabrero D, Bueren JA. Lasaga M, et al. Among authors: surralles j. Haematologica. 2023 Oct 1;108(10):2652-2663. doi: 10.3324/haematol.2022.282418. Haematologica. 2023. PMID: 37021532 Free PMC article.
In Memory of Professor Adayapalam T Natarajan.
Balajee AS, Palitti F, Surrallés J, Hande MP. Balajee AS, et al. Among authors: surralles j. Mutat Res Genet Toxicol Environ Mutagen. 2018 Dec;836(Pt A):1-2. doi: 10.1016/j.mrgentox.2018.04.008. Epub 2018 May 7. Mutat Res Genet Toxicol Environ Mutagen. 2018. PMID: 30389151 No abstract available.
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.
Persico I, Fontana G, Faleschini M, Zanchetta ME, Ammeti D, Cappelli E, Corsolini F, Mosa C, Guarina A, Bogliolo M, Surrallés J, Dufour C, Farruggia P, Savoia A, Bottega R. Persico I, et al. Among authors: surralles j. Front Genet. 2023 Jul 20;14:1209138. doi: 10.3389/fgene.2023.1209138. eCollection 2023. Front Genet. 2023. PMID: 37547463 Free PMC article.
Clinical consequences of BRCA2 hypomorphism.
Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J. Castells-Roca L, et al. Among authors: surralles j. NPJ Breast Cancer. 2021 Sep 9;7(1):117. doi: 10.1038/s41523-021-00322-9. NPJ Breast Cancer. 2021. PMID: 34504103 Free PMC article.
Epidemiology of rare anaemias in Europe.
Gulbis B, Eleftheriou A, Angastiniotis M, Ball S, Surrallés J, Castella M, Heimpel H, Hill A, Corrons JL. Gulbis B, et al. Among authors: surralles j. Adv Exp Med Biol. 2010;686:375-96. doi: 10.1007/978-90-481-9485-8_22. Adv Exp Med Biol. 2010. PMID: 20824457 Review.
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
138 results