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A substantial proportion of microsatellite-unstable colon tumors carryTP53 mutations while not showing chromosomal instability

article

An absolute procedure to test the growth potential of medium and the influence of decreased oxygen tension in primary amniotic fluid cell cultures

artículo científico publicado en 2006

Analysis of a new homozygous deletion in the tumor suppressor region at 3p12.3 reveals two novel intronic noncoding RNA genes

artículo científico publicado en 2006

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

artículo científico publicado en 2005

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

article

Determination of TP53 mutation is more relevant than microsatellite instability status for the prediction of disease-free survival in adjuvant-treated stage III colon cancer patients.

artículo científico publicado en 2005

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

artículo científico publicado en 2006

First-trimester use of paroxetine and congenital heart defects: a population-based case-control study.

artículo científico publicado en 2010

Functional analysis of lung tumor suppressor activity at 3p21.3.

artículo científico publicado en 2006

Genetic alterations in locally advanced stage II/III colon cancer: a search for prognostic markers

artículo científico publicado en 2004

Identifying candidate Hirschsprung disease-associated RET variants

artículo científico publicado en 2005

In Vitro Fertilization with Preimplantation Genetic Screening

artículo científico publicado en 2007

Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

article

Inheritance mode of multiple sclerosis: the effect of HLA class II alleles is stronger than additive

artículo científico publicado en 2004

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

artículo científico publicado en 2004

MUTYH and the mismatch repair system: partners in crime?

artículo científico publicado en 2006

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant

artículo científico publicado en 2002

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

artículo científico publicado en 2003

Mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex

artículo científico publicado en 2002

RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.

artículo científico publicado en 2005

Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation.

artículo científico publicado en 2007

Segregation at three loci explains familial and population risk in Hirschsprung disease

artículo científico publicado en 2002

Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

article

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

artículo científico publicado en 2003

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