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Items: 1 to 20 of 28

1.

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.

Homs A, Codina-Solà M, Rodríguez-Santiago B, Villanueva CM, Monk D, Cuscó I, Pérez-Jurado LA.

Transl Psychiatry. 2016 Jul 12;6(7):e855. doi: 10.1038/tp.2016.120.

PMID:
27404287
2.

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, Del Campo M, Gener B, Gabau E, Botella MP, Gutiérrez-Arumí A, Antiñolo G, Pérez-Jurado LA, Cuscó I.

Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015.

3.

DNA methylation abnormalities in congenital heart disease.

Serra-Juhé C, Cuscó I, Homs A, Flores R, Torán N, Pérez-Jurado LA.

Epigenetics. 2015;10(2):167-77. doi: 10.1080/15592294.2014.998536.

4.

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.

González JR, Cáceres A, Esko T, Cuscó I, Puig M, Esnaola M, Reina J, Siroux V, Bouzigon E, Nadif R, Reinmaa E, Milani L, Bustamante M, Jarvis D, Antó JM, Sunyer J, Demenais F, Kogevinas M, Metspalu A, Cáceres M, Pérez-Jurado LA.

Am J Hum Genet. 2014 Mar 6;94(3):361-72. doi: 10.1016/j.ajhg.2014.01.015. Epub 2014 Feb 20.

5.

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.

Argente J, Flores R, Gutiérrez-Arumí A, Verma B, Martos-Moreno GÁ, Cuscó I, Oghabian A, Chowen JA, Frilander MJ, Pérez-Jurado LA.

EMBO Mol Med. 2014 Mar;6(3):299-306. doi: 10.1002/emmm.201303573. Epub 2014 Jan 30.

6.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.

Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.

PMID:
23320472
7.

Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.

Toma C, Hervás A, Torrico B, Balmaña N, Salgado M, Maristany M, Vilella E, Martínez-Leal R, Planelles MI, Cuscó I, del Campo M, Pérez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Pérez-Costillas L, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B.

Psychiatr Genet. 2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6.

PMID:
23277129
8.

Contribution of rare copy number variants to isolated human malformations.

Serra-Juhé C, Rodríguez-Santiago B, Cuscó I, Vendrell T, Camats N, Torán N, Pérez-Jurado LA.

PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3.

9.

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.

Toma C, Hervás A, Balmaña N, Salgado M, Maristany M, Vilella E, Aguilera F, Orejuela C, Cuscó I, Gallastegui F, Pérez-Jurado LA, Caballero-Andaluz R, Diego-Otero Yd, Guzmán-Alvarez G, Ramos-Quiroga JA, Ribasés M, Bayés M, Cormand B.

World J Biol Psychiatry. 2013 Sep;14(7):516-27. doi: 10.3109/15622975.2011.602719. Epub 2012 Mar 8.

PMID:
22397633
10.

Deletion of TET2 gene in an acute myeloid leukemia case with a t(4;15)(q24;q26) characterized by glass needle based chromosome microdissection and oligonucleotide array.

Villa O, Mallo M, Kosyakova N, Salido M, Liehr T, Martínez-Avilés L, Pedro C, García-Aragonés M, Espinet B, Bellosillo B, Florensa L, Arenillas L, Cuscó I, Jurado LA, Solé F.

Leuk Res. 2011 Sep;35(9):e161-3. doi: 10.1016/j.leukres.2011.05.027. Epub 2011 Jun 17. No abstract available.

PMID:
21684005
11.

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder.

Álvarez-Iglesias V, Mosquera-Miguel A, Cuscó I, Carracedo Á, Pérez-Jurado LA, Salas A.

BMC Med Genet. 2011 Apr 6;12:50. doi: 10.1186/1471-2350-12-50.

12.

[1p36 microdeletion syndrome].

Ortigosa Gómez S, Seidel Padilla V, Cuscó I, Aznar Lain G.

An Pediatr (Barc). 2011 Mar;74(3):197-9. doi: 10.1016/j.anpedi.2010.09.033. Spanish. No abstract available.

13.

Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.

Toma C, Hervás A, Balmaña N, Vilella E, Aguilera F, Cuscó I, del Campo M, Caballero R, De Diego-Otero Y, Ribasés M, Cormand B, Bayés M.

J Psychiatr Res. 2011 Feb;45(2):280-2. doi: 10.1016/j.jpsychires.2010.09.001. No abstract available.

PMID:
20888579
14.

New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.

Alvarez-Iglesias V, Mosquera-Miguel A, Cerezo M, Quintáns B, Zarrabeitia MT, Cuscó I, Lareu MV, García O, Pérez-Jurado L, Carracedo A, Salas A.

PLoS One. 2009;4(4):e5112. doi: 10.1371/journal.pone.0005112. Epub 2009 Apr 2. Erratum in: PLoS One. 2010;5(4). doi: 10.1371/annotation/25b9ed74-e963-496e-84bb-526bd6867221.

15.

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA.

Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26.

16.

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA.

BMC Med Genet. 2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27.

17.

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Cuscó I, Corominas R, Bayés M, Flores R, Rivera-Brugués N, Campuzano V, Pérez-Jurado LA.

Genome Res. 2008 May;18(5):683-94. doi: 10.1101/gr.073197.107. Epub 2008 Feb 21.

18.

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

Cuscó I, Barceló MJ, Rojas-García R, Illa I, Gámez J, Cervera C, Pou A, Izquierdo G, Baiget M, Tizzano EF.

J Neurol. 2006 Jan;253(1):21-5. Epub 2005 Jun 28.

PMID:
15981080
19.

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

Soler-Botija C, Cuscó I, Caselles L, López E, Baiget M, Tizzano EF.

J Neuropathol Exp Neurol. 2005 Mar;64(3):215-23.

20.

Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord.

Soler-Botija C, Cuscó I, López E, Clua A, Gich I, Baiget M, Ferrer I, Tizzano EF.

Neuromuscul Disord. 2005 Mar;15(3):253-8. Epub 2005 Jan 28.

PMID:
15725587
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