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Artículo
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
(Elsevier, 2018-11-16)
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells ...
Artículo
Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
(Public Library of Science, 2014)
This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP ...
Artículo
Simvastatin and metformin inhibit cell growth in hepatitis C virus infected cells via mTOR increasing PTEN and autophagy
(2018-01-31)
Hepatitis C virus (HCV) infection has been related to increased risk of development of hepa tocellular carcinoma (HCC) while metformin (M) and statins treatment seemed to protect against HCC development. In this work, we ...
Artículo
Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
(Hindawi Publishing Corporation, 2012)
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical ...
Artículo
Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome
(BioMed Central, 2012-07-28)
Background: Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality. Case presentation: We report a case of giant chorioangioma with fetal hydrops, ...
Artículo
Small bowel obstruction due to laparoscopic barbed sutures: An unknown complication?
(Sociedad Española de Patología Digestiva, 2015)
Background: In recent years there has been an increasing uptake in the use of barbed sutures, particularly in minimally invasive and laparoscopic procedures where they may reduce operating time and improve surgical efficiency. ...
Artículo
Cigarette Smoke Decreases the Maturation of Lung Myeloid Dendritic Cells
(Public Library of Science, 2016-04-08)
Background Conflicting data exist on the role of pulmonary dendritic cells (DCs) and their maturation in patients with chronic obstructive pulmonary disease (COPD). Herein, we investigated whether disease severity and ...
Artículo
Dasatinib, a Src inhibitor, sensitizes liver metastatic colorectal carcinoma to oxaliplatin in tumors with high levels of phospho-Src.
(Impact Journals, 2016-04-20)
Despite the development of new antineoplastic agents for the treatment of colorectal cancer (CRC), oxaliplatin and fluoropyrimidines remain the most commonly employed drugs for the treatment of both early and advanced ...
Artículo
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
(Hindawi, 2014-10-14)
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as ...