Lista de obras - Cecile Ged - Dominio Público Uruguay

A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family

artículo científico publicado en 1996

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa

artículo científico publicado en 2010

Case report of a patient with non-alcoholic fatty liver disease, moderate iron overload who is homozygous for the S65C mutation in the HFE1 gene

scientific article published on 12 February 2005

Correction of congenital erythropoietic porphyria by bone marrow transplantation

scientific article published on 01 September 1996

Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.

artículo científico publicado en 2017

Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells

artículo científico publicado en 2008

Factor V Leiden, mild hyperhomocyst(e)inemia and Buerger's disease.

artículo científico publicado en 1998

Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.

artículo científico publicado en 2001

Genetic alterations in colorectal cancer, comparative analysis of deletion events, and point mutations.

artículo científico publicado en 1998

Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model

artículo científico publicado en 2016

Inaugural cerebral sinovenous thrombosis revealing homocystinuria in a 2-year-old boy.

artículo científico publicado en 2014

Isolation of the human cytochrome P-450 IIC8 gene: multiple glucocorticoid responsive elements in the 5' region

artículo científico publicado en 1991

Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.

artículo científico publicado en 2017

Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation.

artículo científico publicado en 2010

Murine retroviral but not human cellular promoters induce in vivo erythroid-specific deregulation that can be partially prevented by insulators.

artículo científico publicado en 2007

Partial sequence and polymerase chain reaction-mediated analysis of expression of the human CYP2C18 gene ⬇️

artículo científico publicado el 1 de junio de 1992

Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses

artículo científico publicado en 2018

Porphyrias: animal models and prospects for cellular and gene therapy.

artículo científico publicado en 1995

Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.

artículo científico publicado en 2013

Retroviral coexpression of IFN-alpha and IFN-gamma genes and inhibitory effects in chronic myeloid leukemia cells.

artículo científico publicado en 2000

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

artículo científico publicado en 2004

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

scientific article published on 24 July 2019

Lista de obras de Cecile Ged