List of works by Charles H C M Buys

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

scientific article published in September 2006

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

scientific article published on July 2006

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

scientific article published in July 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.

scientific article published in August 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.

scientific article published in November 2006

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

scientific article published in February 2010

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

scientific article published on December 2006

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

scientific article

Identifying candidate Hirschsprung disease-associated RET variants

scientific article

In Vitro Fertilization with Preimplantation Genetic Screening

scientific article published on 04 July 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

scientific article published on September 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.

scientific article

MUTYH and the mismatch repair system: partners in crime?

scientific article

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

scientific article published on January 2002

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

scientific article (publication date: April 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

scientific article

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

scientific article published on March 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.

scientific article published on 5 January 2007

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

scientific article published on 15 April 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.

scientific article published in December 2003

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