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Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Submitted by iguillen on Fri, 06/28/2019 - 13:56

Barragán I, Borrego S, Pieras JIgnacio, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Submitted by iguillen on Wed, 06/26/2019 - 13:28

Tort F, García-Silva MTeresa, Ferrer-Cortès X, et al. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013;110(1-2):73-7. doi:10.1016/j.ymgme.2013.04.021.

Human DNA methylomes of neurodegenerative diseases show common epigenomic patterns.

Submitted by iguillen on Tue, 06/25/2019 - 13:16

Sanchez-Mut JV, Heyn H, Vidal E, et al. Human DNA methylomes of neurodegenerative diseases show common epigenomic patterns. Transl Psychiatry. 2016;6:e718. doi:10.1038/tp.2015.214.

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Submitted by iguillen on Tue, 06/25/2019 - 12:16

Lucariello M, Vidal E, Vidal S, et al. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.

Submitted by iguillen on Tue, 06/25/2019 - 09:57

Chacón-Solano E, León C, Díaz F, et al. Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses. Br J Dermatol. 2019;181(3):512-522. doi:10.1111/bjd.17698.

Exploring the link between germline and somatic genetic alterations in breast carcinogenesis.

Submitted by iguillen on Tue, 06/18/2019 - 13:11

Bonifaci N, Górski B, Masojć B, et al. Exploring the link between germline and somatic genetic alterations in breast carcinogenesis. PLoS One. 2010;5(11):e14078. doi:10.1371/journal.pone.0014078.

DNA methylation epigenotypes in breast cancer molecular subtypes.

Submitted by iguillen on Tue, 06/18/2019 - 12:44

Bediaga NG, Acha-Sagredo A, Guerra I, et al. DNA methylation epigenotypes in breast cancer molecular subtypes. Breast Cancer Res. 2010;12(5):R77. doi:10.1186/bcr2721.

Early peroxisome proliferator-activated receptor gamma regulated genes involved in expansion of pancreatic beta cell mass.

Submitted by iguillen on Tue, 06/18/2019 - 11:22

Vivas Y, Martinez-Garcia C, Izquierdo A, et al. Early peroxisome proliferator-activated receptor gamma regulated genes involved in expansion of pancreatic beta cell mass. BMC Med Genomics. 2011;4:86. doi:10.1186/1755-8794-4-86.

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.

Submitted by iguillen on Tue, 06/18/2019 - 11:13

Heyn H, Vidal E, Sayols S, et al. Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics. 2012;7(6):542-50. doi:10.4161/epi.20523.

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.

Submitted by iguillen on Tue, 06/18/2019 - 10:38

Fernández RMa, Bleda M, Núñez-Torres R, et al. Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. Orphanet J Rare Dis. 2012;7:103. doi:10.1186/1750-1172-7-103.