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Items: 1 to 50 of 171

1.

Precision medicine needs pioneering clinical bioinformaticians.

Gómez-López G, Dopazo J, Cigudosa JC, Valencia A, Al-Shahrour F.

Brief Bioinform. 2017 Oct 25. doi: 10.1093/bib/bbx144. [Epub ahead of print]

PMID:
29077790
2.

The molecular pathogenesis of the NUP98-HOXA9 fusion protein in acute myeloid leukemia.

Rio-Machin A, Gómez-López G, Muñoz J, Garcia-Martinez F, Maiques-Diaz A, Alvarez S, Salgado RN, Shrestha M, Torres-Ruiz R, Haferlach C, Larráyoz MJ, Calasanz MJ, Fitzgibbon J, Cigudosa JC.

Leukemia. 2017 Sep;31(9):2000-2005. doi: 10.1038/leu.2017.194. Epub 2017 Jun 20. No abstract available.

3.

Efficient Recreation of t(11;22) EWSR1-FLI1+ in Human Stem Cells Using CRISPR/Cas9.

Torres-Ruiz R, Martinez-Lage M, Martin MC, Garcia A, Bueno C, Castaño J, Ramirez JC, Menendez P, Cigudosa JC, Rodriguez-Perales S.

Stem Cell Reports. 2017 May 9;8(5):1408-1420. doi: 10.1016/j.stemcr.2017.04.014.

4.

Recommendations for the use of microarrays in prenatal diagnosis.

Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos.

Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8. doi: 10.1016/j.medcli.2016.12.028. Epub 2017 Feb 21. English, Spanish.

PMID:
28233562
5.

Genetic and Epigenetic Silencing of MicroRNA-203 Enhances ABL1 and BCR-ABL1 Oncogene Expression.

Bueno MJ, Pérez de Castro I, Gómez de Cedrón M, Santos J, Calin GA, Cigudosa JC, Croce CM, Fernández-Piqueras J, Malumbres M.

Cancer Cell. 2016 Apr 11;29(4):607-608. doi: 10.1016/j.ccell.2016.03.013. No abstract available.

6.

BPTF is required for c-MYC transcriptional activity and in vivo tumorigenesis.

Richart L, Carrillo-de Santa Pau E, Río-Machín A, de Andrés MP, Cigudosa JC, Lobo VJ, Real FX.

Nat Commun. 2016 Jan 5;7:10153. doi: 10.1038/ncomms10153.

7.

Chronic neutrophilic leukemia: a clinical perspective.

Menezes J, Cigudosa JC.

Onco Targets Ther. 2015 Sep 1;8:2383-90. doi: 10.2147/OTT.S49688. eCollection 2015. Review.

8.

MAPK8-mediated stabilization of SP1 is essential for RUNX1-RUNX1T1 - driven leukaemia.

Maiques-Diaz A, Hernando M, Sánchez-López A, Rio-Machin A, Shrestha M, Mulloy JC, Cigudosa JC, Alvarez S.

Br J Haematol. 2016 Mar;172(5):807-10. doi: 10.1111/bjh.13536. Epub 2015 Jun 8. No abstract available.

PMID:
26058961
9.

Truncated RUNX1 protein generated by a novel t(1;21)(p32;q22) chromosomal translocation impairs the proliferation and differentiation of human hematopoietic progenitors.

Rodriguez-Perales S, Torres-Ruiz R, Suela J, Acquadro F, Martin MC, Yebra E, Ramirez JC, Alvarez S, Cigudosa JC.

Oncogene. 2016 Jan 7;35(1):125-34. doi: 10.1038/onc.2015.70. Epub 2015 Mar 23.

PMID:
25798834
10.

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.

Mol Oncol. 2015 Feb;9(2):422-36. doi: 10.1016/j.molonc.2014.09.010. Epub 2014 Oct 5.

11.

Long-term skin regeneration from a gene-targeted human epidermal stem cell clone.

Duarte B, Miselli F, Murillas R, Espinosa-Hevia L, Cigudosa JC, Recchia A, Del Río M, Larcher F.

Mol Ther. 2014 Nov;22(11):1878-80. doi: 10.1038/mt.2014.187. No abstract available.

12.

[Genetics applied to clinical practice in neurodevelopmental disorders].

Fernández-Jaén A, Cigudosa JC, Martín Fernández-Mayoralas D, Suela J, Fernández-Perrone AL, Calleja-Pérez B, López-Martín S.

Rev Neurol. 2014 Feb 24;58 Suppl 1:S65-70. Review. Spanish.

PMID:
25252670
13.

Engineering human tumour-associated chromosomal translocations with the RNA-guided CRISPR-Cas9 system.

Torres R, Martin MC, Garcia A, Cigudosa JC, Ramirez JC, Rodriguez-Perales S.

Nat Commun. 2014 Jun 3;5:3964. doi: 10.1038/ncomms4964.

PMID:
24888982
14.

Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: the critical role of LBX.

Fernández-Jaén A, Suela J, Fernández-Mayoralas DM, Fernández-Perrone AL, Wotton KR, Dietrich S, Castellanos Mdel C, Cigudosa JC, Calleja-Pérez B, López-Martín S.

Am J Med Genet A. 2014 Aug;164A(8):2074-8. doi: 10.1002/ajmg.a.36589. Epub 2014 Apr 29.

PMID:
24782348
15.

Myeloid neoplasms with der(1)t(1;19) may constitute a specific entity characterized by a cytogenetic biomarker and gene mutations involved in DNA methylation.

Salgado RN, Menezes J, Calvente M, Suela J, Acquadro F, Martínez-Laperche C, Flores R, Trujillo M, Alvarez S, Cigudosa JC.

Leuk Lymphoma. 2014 Nov;55(11):2652-5. doi: 10.3109/10428194.2014.891024. Epub 2014 Mar 17. No abstract available.

PMID:
24635575
16.

Sequential gene targeting to make chimeric tumor models with de novo chromosomal abnormalities.

Chambers JS, Tanaka T, Brend T, Ali H, Geisler NJ, Khazin L, Cigudosa JC, Dear TN, MacLennan K, Rabbitts TH.

Cancer Res. 2014 Mar 1;74(5):1588-97. doi: 10.1158/0008-5472.CAN-13-1783. Epub 2014 Jan 13.

17.

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.

Papoulidis I, Oikonomidou E, Orru S, Siomou E, Kontodiou M, Eleftheriades M, Bacoulas V, Cigudosa JC, Suela J, Thomaidis L, Manolakos E.

Mol Med Rep. 2014 Jan;9(1):163-5. doi: 10.3892/mmr.2013.1788. Epub 2013 Nov 11.

PMID:
24220582
18.

CSF3R T618I co-occurs with mutations of splicing and epigenetic genes and with a new PIM3 truncated fusion gene in chronic neutrophilic leukemia.

Menezes J, Makishima H, Gomez I, Acquadro F, Gómez-López G, Graña O, Dopazo A, Alvarez S, Trujillo M, Pisano DG, Maciejewski JP, Cigudosa JC.

Blood Cancer J. 2013 Nov 8;3:e158. doi: 10.1038/bcj.2013.55. No abstract available.

19.

ASXL1, TP53 and IKZF3 mutations are present in the chronic phase and blast crisis of chronic myeloid leukemia.

Menezes J, Salgado RN, Acquadro F, Gómez-López G, Carralero MC, Barroso A, Mercadillo F, Espinosa-Hevia L, Talavera-Casañas JG, Pisano DG, Alvarez S, Cigudosa JC.

Blood Cancer J. 2013 Nov 8;3:e157. doi: 10.1038/bcj.2013.54. No abstract available.

20.

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Balbás-Martínez C, Sagrera A, Carrillo-de-Santa-Pau E, Earl J, Márquez M, Vazquez M, Lapi E, Castro-Giner F, Beltran S, Bayés M, Carrato A, Cigudosa JC, Domínguez O, Gut M, Herranz J, Juanpere N, Kogevinas M, Langa X, López-Knowles E, Lorente JA, Lloreta J, Pisano DG, Richart L, Rico D, Salgado RN, Tardón A, Chanock S, Heath S, Valencia A, Losada A, Gut I, Malats N, Real FX.

Nat Genet. 2013 Dec;45(12):1464-9. doi: 10.1038/ng.2799. Epub 2013 Oct 13.

21.

Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm.

Menezes J, Acquadro F, Wiseman M, Gómez-López G, Salgado RN, Talavera-Casañas JG, Buño I, Cervera JV, Montes-Moreno S, Hernández-Rivas JM, Ayala R, Calasanz MJ, Larrayoz MJ, Brichs LF, Gonzalez-Vicent M, Pisano DG, Piris MA, Álvarez S, Cigudosa JC.

Leukemia. 2014 Apr;28(4):823-9. doi: 10.1038/leu.2013.283. Epub 2013 Sep 27.

PMID:
24072100
22.

Keratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.

Chamorro C, Almarza D, Duarte B, Llames SG, Murillas R, García M, Cigudosa JC, Espinosa-Hevia L, Escámez MJ, Mencía A, Meana A, García-Escudero R, Moro R, Conti CJ, Del Río M, Larcher F.

Exp Dermatol. 2013 Sep;22(9):601-3. doi: 10.1111/exd.12203.

PMID:
23947675
23.

Identification of prefoldin amplification (1q23.3-q24.1) in bladder cancer using comparative genomic hybridization (CGH) arrays of urinary DNA.

López V, González-Peramato P, Suela J, Serrano A, Algaba F, Cigudosa JC, Vidal A, Bellmunt J, Heredero O, Sánchez-Carbayo M.

J Transl Med. 2013 Aug 1;11:182. doi: 10.1186/1479-5876-11-182.

24.

Aberrant DNA methylation profile of chronic and transformed classic Philadelphia-negative myeloproliferative neoplasms.

Pérez C, Pascual M, Martín-Subero JI, Bellosillo B, Segura V, Delabesse E, Álvarez S, Larrayoz MJ, Rifón J, Cigudosa JC, Besses C, Calasanz MJ, Cross NC, Prósper F, Agirre X.

Haematologica. 2013 Sep;98(9):1414-20. doi: 10.3324/haematol.2013.084160. Epub 2013 May 28.

25.

Response to lenalidomide in myelodysplastic syndromes with del(5q): influence of cytogenetics and mutations.

Mallo M, Del Rey M, Ibáñez M, Calasanz MJ, Arenillas L, Larráyoz MJ, Pedro C, Jerez A, Maciejewski J, Costa D, Nomdedeu M, Diez-Campelo M, Lumbreras E, González-Martínez T, Marugán I, Such E, Cervera J, Cigudosa JC, Alvarez S, Florensa L, Hernández JM, Solé F.

Br J Haematol. 2013 Jul;162(1):74-86. doi: 10.1111/bjh.12354. Epub 2013 Apr 25.

PMID:
23614682
26.

Mechanisms of intracerebral lymphoma growth delineated in a syngeneic mouse model of central nervous system lymphoma.

Montesinos-Rongen M, Sánchez-Ruiz M, Brunn A, Hong K, Bens S, Perales SR, Cigudosa JC, Siebert R, Deckert M.

J Neuropathol Exp Neurol. 2013 Apr;72(4):325-36. doi: 10.1097/NEN.0b013e31828b7a98.

PMID:
23481709
27.

Determining the profiles and parameters for gene amplification testing of growth factor receptors in lung cancer.

Pros E, Lantuejoul S, Sanchez-Verde L, Castillo SD, Bonastre E, Suarez-Gauthier A, Conde E, Cigudosa JC, Lopez-Rios F, Torres-Lanzas J, Castellví J, Ramon y Cajal S, Brambilla E, Sanchez-Cespedes M.

Int J Cancer. 2013 Aug 15;133(4):898-907. doi: 10.1002/ijc.28090. Epub 2013 Mar 9.

28.

Downregulation of specific miRNAs in hyperdiploid multiple myeloma mimics the oncogenic effect of IgH translocations occurring in the non-hyperdiploid subtype.

Rio-Machin A, Ferreira BI, Henry T, Gómez-López G, Agirre X, Alvarez S, Rodriguez-Perales S, Prosper F, Calasanz MJ, Martínez J, Fonseca R, Cigudosa JC.

Leukemia. 2013 Apr;27(4):925-31. doi: 10.1038/leu.2012.302. Epub 2012 Oct 22.

PMID:
23174883
29.

MYC antagonizes the differentiation induced by imatinib in chronic myeloid leukemia cells through downregulation of p27(KIP1.).

Gómez-Casares MT, García-Alegria E, López-Jorge CE, Ferrándiz N, Blanco R, Alvarez S, Vaqué JP, Bretones G, Caraballo JM, Sánchez-Bailón P, Delgado MD, Martín-Perez J, Cigudosa JC, León J.

Oncogene. 2013 Apr 25;32(17):2239-46. doi: 10.1038/onc.2012.246. Epub 2012 Jun 18.

PMID:
22710719
30.

Are ER+PR+ and ER+PR- breast tumors genetically different? A CGH array study.

Carracedo A, Salido M, Corominas JM, Rojo F, Ferreira BI, Suela J, Tusquets I, Corzo C, Segura M, Espinet B, Cigudosa JC, Arumi M, Albanell J, Serrano S, Solé F.

Cancer Genet. 2012 Apr;205(4):138-46. doi: 10.1016/j.cancergen.2012.01.001.

PMID:
22559974
31.

Characterization of a new human melanoma cell line with CD133 expression.

Gil-Benso R, Monteagudo C, Cerdá-Nicolás M, Callaghan RC, Pinto S, Martínez-Romero A, Pellín-Carcelén A, San-Miguel T, Cigudosa JC, López-Ginés C.

Hum Cell. 2012 Jun;25(2):61-7. doi: 10.1007/s13577-011-0027-y. Epub 2012 Apr 13.

PMID:
22529031
32.

Preclinical activity of LBH589 alone or in combination with chemotherapy in a xenogeneic mouse model of human acute lymphoblastic leukemia.

Vilas-Zornoza A, Agirre X, Abizanda G, Moreno C, Segura V, De Martino Rodriguez A, José-Eneriz ES, Miranda E, Martín-Subero JI, Garate L, Blanco-Prieto MJ, García de Jalón JA, Rio P, Rifón J, Cigudosa JC, Martinez-Climent JA, Román-Gómez J, Calasanz MJ, Ribera JM, Prósper F.

Leukemia. 2012 Jul;26(7):1517-26. doi: 10.1038/leu.2012.31. Epub 2012 Feb 6.

33.

Chromatin modifications induced by the AML1-ETO fusion protein reversibly silence its genomic targets through AML1 and Sp1 binding motifs.

Maiques-Diaz A, Chou FS, Wunderlich M, Gómez-López G, Jacinto FV, Rodriguez-Perales S, Larrayoz MJ, Calasanz MJ, Mulloy JC, Cigudosa JC, Alvarez S.

Leukemia. 2012 Jun;26(6):1329-37. doi: 10.1038/leu.2011.376. Epub 2012 Jan 13.

PMID:
22289984
34.

Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t(4;21)(q21;q22).

Rio-Machín A, Menezes J, Maiques-Diaz A, Agirre X, Ferreira BI, Acquadro F, Rodriguez-Perales S, Juaristi KA, Alvarez S, Cigudosa JC.

Haematologica. 2012 Apr;97(4):534-7. doi: 10.3324/haematol.2011.050567. Epub 2011 Nov 18.

35.

A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.

Tejada MI, Martínez-Bouzas C, García-Ribes A, Larrucea S, Acquadro F, Cigudosa JC, Belet S, Froyen G, López-Aríztegui MA.

Pediatrics. 2011 Oct;128(4):e1029-33. doi: 10.1542/peds.2010-0388. Epub 2011 Sep 19.

PMID:
21930553
36.

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.

Cascón A, Huarte-Mendicoa CV, Javier Leandro-García L, Letón R, Suela J, Santana A, Costa MB, Comino-Méndez I, Landa I, Sánchez L, Rodríguez-Antona C, Cigudosa JC, Robledo M.

Genes Chromosomes Cancer. 2011 Nov;50(11):922-9. doi: 10.1002/gcc.20911. Epub 2011 Aug 11.

PMID:
21837707
37.

FIP1L1/RARA with breakpoint at FIP1L1 intron 13: a variant translocation in acute promyelocytic leukemia.

Menezes J, Acquadro F, Perez-Pons de la Villa C, García-Sánchez F, Álvarez S, Cigudosa JC.

Haematologica. 2011 Oct;96(10):1565-6. doi: 10.3324/haematol.2011.047134. Epub 2011 Jul 12. No abstract available.

38.

A large scale survey reveals that chromosomal copy-number alterations significantly affect gene modules involved in cancer initiation and progression.

Alloza E, Al-Shahrour F, Cigudosa JC, Dopazo J.

BMC Med Genomics. 2011 May 6;4:37. doi: 10.1186/1755-8794-4-37.

39.

Cytogenetic risk stratification in chronic myelomonocytic leukemia.

Such E, Cervera J, Costa D, Solé F, Vallespí T, Luño E, Collado R, Calasanz MJ, Hernández-Rivas JM, Cigudosa JC, Nomdedeu B, Mallo M, Carbonell F, Bueno J, Ardanaz MT, Ramos F, Tormo M, Sancho-Tello R, del Cañizo C, Gómez V, Marco V, Xicoy B, Bonanad S, Pedro C, Bernal T, Sanz GF.

Haematologica. 2011 Mar;96(3):375-83. doi: 10.3324/haematol.2010.030957. Epub 2010 Nov 25.

40.

Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors.

Hafner C, Toll A, Fernández-Casado A, Earl J, Marqués M, Acquadro F, Méndez-Pertuz M, Urioste M, Malats N, Burns JE, Knowles MA, Cigudosa JC, Hartmann A, Vogt T, Landthaler M, Pujol RM, Real FX.

Proc Natl Acad Sci U S A. 2010 Nov 30;107(48):20780-5. doi: 10.1073/pnas.1008365107. Epub 2010 Nov 15.

41.

Primary cutaneous CD30+ anaplastic large-cell lymphomas show a heterogeneous genomic profile: an oligonucleotide arrayCGH approach.

Sánchez-Schmidt JM, Salgado R, Servitje O, Gallardo F, Ortiz-Romero PL, Karpova MB, Zipser MC, García-Muret MP, Estrach T, Rodríguez-Pinilla SM, Climent F, Suela J, Ferreira BI, Cigudosa JC, Salido M, Barranco C, Serrano S, Dummer R, Solé F, Pujol RM, Espinet B.

J Invest Dermatol. 2011 Jan;131(1):269-71. doi: 10.1038/jid.2010.271. Epub 2010 Sep 16. No abstract available.

42.

DNA methylation profiles and their relationship with cytogenetic status in adult acute myeloid leukemia.

Alvarez S, Suela J, Valencia A, Fernández A, Wunderlich M, Agirre X, Prósper F, Martín-Subero JI, Maiques A, Acquadro F, Rodriguez Perales S, Calasanz MJ, Roman-Gómez J, Siebert R, Mulloy JC, Cervera J, Sanz MA, Esteller M, Cigudosa JC.

PLoS One. 2010 Aug 16;5(8):e12197. doi: 10.1371/journal.pone.0012197.

43.

Retraction: Spontaneous human adult stem cell transformation.

de la Fuente R, Bernad A, Garcia-Castro J, Martin MC, Cigudosa JC.

Cancer Res. 2010 Aug 15;70(16):6682. doi: 10.1158/0008-5472.CAN-10-2451. No abstract available.

44.

Mantle cell lymphoma: transcriptional regulation by microRNAs.

Di Lisio L, Gómez-López G, Sánchez-Beato M, Gómez-Abad C, Rodríguez ME, Villuendas R, Ferreira BI, Carro A, Rico D, Mollejo M, Martínez MA, Menárguez J, Díaz-Alderete A, Gil J, Cigudosa JC, Pisano DG, Piris MA, Martínez N.

Leukemia. 2010 Jul;24(7):1335-42. doi: 10.1038/leu.2010.91. Epub 2010 May 20.

PMID:
20485376
45.

Intrafollicular neoplasia/in situ follicular lymphoma: review of a series of 13 cases.

Montes-Moreno S, Castro Y, Rodríguez-Pinilla SM, García JF, Mollejo M, Castillo ME, Bas-Vernal A, Barrionuevo-Cornejo C, Sanchez-Verde L, Menarguez J, Cigudosa JC, Piris MA.

Histopathology. 2010 Apr;56(5):658-62. doi: 10.1111/j.1365-2559.2010.03529.x. No abstract available.

PMID:
20459579
46.

Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation.

Lasa A, Ramón y Cajal T, Llort G, Suela J, Cigudosa JC, Cornet M, Alonso C, Barnadas A, Baiget M.

Breast Cancer Res Treat. 2010 Oct;123(3):901-5. doi: 10.1007/s10549-010-0877-0. Epub 2010 Apr 6.

PMID:
20369283
47.

Splenic diffuse red pulp small B-cell lymphoma: revision of a series of cases reveals characteristic clinico-pathological features.

Kanellis G, Mollejo M, Montes-Moreno S, Rodriguez-Pinilla SM, Cigudosa JC, Algara P, Montalban C, Matutes E, Wotherspoon A, Piris MA.

Haematologica. 2010 Jul;95(7):1122-9. doi: 10.3324/haematol.2009.013714. Epub 2010 Mar 10.

48.

Pitfalls in spontaneous in vitro transformation of human mesenchymal stem cells.

Garcia S, Bernad A, Martín MC, Cigudosa JC, Garcia-Castro J, de la Fuente R.

Exp Cell Res. 2010 May 15;316(9):1648-50. doi: 10.1016/j.yexcr.2010.02.016. Epub 2010 Feb 18. No abstract available.

PMID:
20171963
49.

Centromere-localized breaks indicate the generation of DNA damage by the mitotic spindle.

Guerrero AA, Gamero MC, Trachana V, Fütterer A, Pacios-Bras C, Díaz-Concha NP, Cigudosa JC, Martínez-A C, van Wely KH.

Proc Natl Acad Sci U S A. 2010 Mar 2;107(9):4159-64. doi: 10.1073/pnas.0912143106. Epub 2010 Feb 8.

50.

Epigenetic signatures associated with different levels of differentiation potential in human stem cells.

Aranda P, Agirre X, Ballestar E, Andreu EJ, Román-Gómez J, Prieto I, Martín-Subero JI, Cigudosa JC, Siebert R, Esteller M, Prosper F.

PLoS One. 2009 Nov 13;4(11):e7809. doi: 10.1371/journal.pone.0007809.

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