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Items: 1 to 20 of 59

1.

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B, Fernández-Alvarez P, Vendrell T, Armengol L, Tizzano E.

Eur J Med Genet. 2018 Jul 10. pii: S1769-7212(17)30691-2. doi: 10.1016/j.ejmg.2018.07.007. [Epub ahead of print]

PMID:
30006058
2.

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

Viñas-Jornet M, Esteba-Castillo S, Baena N, Ribas-Vidal N, Ruiz A, Torrents-Rodas D, Gabau E, Vilella E, Martorell L, Armengol L, Novell R, Guitart M.

Behav Genet. 2018 Jun 7. doi: 10.1007/s10519-018-9902-6. [Epub ahead of print]

3.

Hepatic accumulation of S-Adenosylmethionine in hamsters with non-alcoholic-fatty liver disease associated to metabolic syndrome under selenium and vitamin E deficiency.

Del Bas JM, Rodríguez B, Puiggròs F, Mariné S, Rodríguez MA, Moriña D, Armengol L, Caimari A, Arola L.

Clin Sci (Lond). 2017 Nov 9. pii: CS20171039. doi: 10.1042/CS20171039. [Epub ahead of print]

PMID:
29122967
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.

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Abulí A, Boada M, Rodríguez-Santiago B, Coroleu B, Veiga A, Armengol L, Barri PN, Pérez-Jurado LA, Estivill X.

Hum Mutat. 2016 Jun;37(6):516-23. doi: 10.1002/humu.22989. Epub 2016 Apr 15.

PMID:
26990548
6.

Detection of chromothripsis-like patterns with a custom array platform for chronic lymphocytic leukemia.

Salaverria I, Martín-Garcia D, López C, Clot G, García-Aragonés M, Navarro A, Delgado J, Baumann T, Pinyol M, Martin-Guerrero I, Carrió A, Costa D, Queirós AC, Jayne S, Aymerich M, Villamor N, Colomer D, González M, López-Guillermo A, Campo E, Dyer MJ, Siebert R, Armengol L, Beà S.

Genes Chromosomes Cancer. 2015 Nov;54(11):668-80. doi: 10.1002/gcc.22277. Epub 2015 Aug 25.

7.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P.

Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8.

8.

Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers.

Ramos L, del Rey J, Daina G, García-Aragonés M, Armengol L, Fernandez-Encinas A, Parriego M, Boada M, Martinez-Passarell O, Martorell MR, Casagran O, Benet J, Navarro J.

PLoS One. 2014 Nov 21;9(11):e113223. doi: 10.1371/journal.pone.0113223. eCollection 2014.

9.

Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption.

Delgado J, Salaverria I, Baumann T, Martínez-Trillos A, Lee E, Jiménez L, Navarro A, Royo C, Santacruz R, López C, Payer AR, Colado E, González M, Armengol L, Colomer D, Pinyol M, Villamor N, Aymerich M, Carrió A, Costa D, Clot G, Giné E, López-Guillermo A, Campo E, Beà S.

Haematologica. 2014 Nov;99(11):e231-4. doi: 10.3324/haematol.2014.108365. Epub 2014 Jul 4. No abstract available.

10.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J.

Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.

PMID:
24874887
11.

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X.

Eur J Hum Genet. 2014 Apr;22(4):528-34. doi: 10.1038/ejhg.2013.175. Epub 2013 Aug 14.

12.

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X.

J Med Genet. 2013 Jul;50(7):455-62. doi: 10.1136/jmedgenet-2013-101602. Epub 2013 May 17.

PMID:
23687349
13.

Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders.

Bassaganyas L, Riveira-Muñoz E, García-Aragonés M, González JR, Cáceres M, Armengol L, Estivill X.

BMC Genomics. 2013 Apr 17;14:261. doi: 10.1186/1471-2164-14-261.

14.

Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects.

Gallego X, Molas S, Amador-Arjona A, Marks MJ, Robles N, Murtra P, Armengol L, Fernández-Montes RD, Gratacòs M, Pumarola M, Cabrera R, Maldonado R, Sabrià J, Estivill X, Dierssen M.

Amino Acids. 2012 Aug;43(2):897-909. doi: 10.1007/s00726-011-1149-y. Epub 2011 Nov 19.

PMID:
22101982
15.

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.

Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA, García-Aragonés M, Villa O, Mansilla E, Preciado C, Fernández L, Ángeles Mori M, García-Pérez L, Lapunzina PD, Pérez-Jurado LA.

Hum Genet. 2012 Mar;131(3):513-23. doi: 10.1007/s00439-011-1095-5.

16.

MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data.

Cáceres A, Armengol L, Villatoro S, González JR.

BMC Bioinformatics. 2011 May 11;12:147. doi: 10.1186/1471-2105-12-147.

17.

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data.

González JR, Rodríguez-Santiago B, Cáceres A, Pique-Regi R, Rothman N, Chanock SJ, Armengol L, Pérez-Jurado LA.

BMC Bioinformatics. 2011 May 17;12:166. doi: 10.1186/1471-2105-12-166.

18.

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32).

Mademont-Soler I, Morales C, Armengol L, Soler A, Sánchez A.

Am J Med Genet A. 2010 Sep;152A(9):2308-12. doi: 10.1002/ajmg.a.33550.

PMID:
20683983
19.

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.

Rodríguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, Kogevinas M, Villa O, Hutchinson A, Earl J, Marenne G, Jacobs K, Rico D, Tardón A, Carrato A, Thomas G, Valencia A, Silverman D, Real FX, Chanock SJ, Pérez-Jurado LA.

Am J Hum Genet. 2010 Jul 9;87(1):129-38. doi: 10.1016/j.ajhg.2010.06.002.

20.

CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries.

Ramos MD, Masvidal L, Giménez J, Bieth E, Seia M, des Georges M, Armengol L, Casals T.

Ann Hum Genet. 2010 Sep 1;74(5):463-9. doi: 10.1111/j.1469-1809.2010.00591.x. Epub 2010 Jun 17.

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