Lista de obras - Elena Botta - Dominio Público Uruguay

A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity.

artículo científico publicado en 1996

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

artículo científico publicado en 2004

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

artículo científico publicado en 2015

Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity ⬇️

artículo científico publicado el 1 de octubre de 1998

Apoptosis and efficient repair of DNA damage protect human keratinocytes against UVB.

artículo científico publicado en 2003

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

artículo científico publicado en 2019

Cellular and genetic characterization of UV sensitive Chinese hamster mutants

artículo científico publicado en 1989

Cellular and genetic studies in three UV-sensitive Chinese hamster mutants.

artículo científico publicado en 1987

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

artículo científico publicado en 2016

From laboratory tests to functional characterisation of Cockayne syndrome.

artículo científico

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

artículo científico publicado en 2018

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

artículo científico publicado en 2016

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

artículo científico publicado en 1993

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.

artículo científico publicado en 2009

Heterogeneity and overlaps in nucleotide excision repair disorders

artículo científico publicado en 2019

Identification of the eleventh complementation group of UV-sensitive excision repair-defective rodent mutants ⬇️

artículo científico publicado el 1 de diciembre de 1992

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

artículo científico publicado en 2007

Novel Chinese hamster ultraviolet-sensitive mutants for excision repair form complementation groups 9 and 10 ⬇️

artículo científico publicado el 1 de agosto de 1991

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features

scientific article published on 11 May 2018

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

scientific article published on 01 November 2002

Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes.