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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
TLDR
It is expected that application of the suggested strategy for CMMRD diagnosis will increase the number of patients being identified at the time when they develop their first tumour, allowing adjustment of the treatment modalities, offering surveillance strategies for second malignancies and appropriate counselling of the entire family. Expand
Increased FISH efficiency using APC probes generated by direct incorporation of labeled nucleotides by PCR.
TLDR
PCR labeling gave high efficiency in detection of fluorescence in situ hybridization (FISH) signals and probes as small as 250 base pairs could be visualized through a fluorescence microscope without any image processing. Expand
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
TLDR
The evaluation showed that surveillance for CRC is the only part of the programme that largely complies with the WHO criteria and it is questionable whether surveillance for haematological malignancies improves the already favourable outcome for patients with these tumours. Expand
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
TLDR
This unselected series of patients confirms the extreme severity of this syndrome with a high mortality rate mostly related to multiple childhood cancers, and highlights the need for its early detection in order to adapt treatment and surveillance. Expand
Amplification of DNA sequences from chromosome 19q13.1 in human pancreatic cell lines.
TLDR
Evidence of heterogeneity in the extent of chromosome 19 amplification is provided and the existence of yet unknown amplified genes that may play a role in pancreatic carcinogenesis is suggested. Expand
Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
TLDR
Ocular examination revealed that patients expressing CHRPE tend to cluster within specific families, and the range of phenotypic expression observed among affected patients may result in part from different allelic manifestations of APC mutations. Expand
Adaptation to 5‐fluorouracil of the heterogeneous human colon tumor cell line ht‐29 results in the selection of cells committed to differentiation
TLDR
The hypothesis that some of the cells which are present in the parental line and are committed to differentiation possess advantages which allow them to immediately resist and secondarily adapt to 5‐fluorouracil is supported. Expand
Survival and acquired genetic alterations in colorectal cancer.
TLDR
Loss of 17p alleles in colorectal carcinoma thus appears to be a marker of tumor aggressiveness and may lead to an improved classification of patients when adjuvant chemotherapy is considered. Expand
Chromosomal phylogeny of forty-two species or subspecies of cercopithecoids (Primates Catarrhini).
TLDR
A tentative to reconcile chromosomal, biochemical and morphological data is presented for Papioninae, for which chromosome study alone is not sufficient to construct a cladogram. Expand
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
TLDR
The presence of MSI and tolerance to methylation in LCs identified patients with CMMRD with 100% sensitivity and specificity and could be used in diagnosis of patients. Expand
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