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The natural history of hereditary pancreatitis: a national series
TLDR
The prevalence of hereditary pancreatitis in France is at least 0.3/100 000 and PRSS1 gene mutations are found in 2/3 with a 93% penetrance, and mutation type is not correlated with clinical/morphological expression.
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
TLDR
The findings confirm the implication of the cationic trypsinogen gene in HP and highlight allelic diversity associated with this phenotype and show that the pattern of inheritance of HP is probably complex and that other genes may be involved in this genetic disease.
[Graft vs host disease].
TLDR
There is a growing realisation of the importance of a graft vs leukaemia effect, strategy, which has encouraged the development of less conditioning regimens and could lead to new efficient and specific immunotherapy.
Prevalence of 20210 A allele of the prothrombin gene in venous thromboembolism patients.
TLDR
The findings in a large series of patients confirm the 20210 A allele prothrombin gene as a risk factor for VTE and suggest that its association with the factor V Leiden is not uncommon.
Factor V Leiden prevalence in venous thromboembolism patients.
TLDR
The factor V mutation is frequent in unselected DVT patients, and patients with the mutation have a significantly more frequent history of DVT and more previous reported episodes.
Risk of Pancreatic Adenocarcinoma in Patients With Hereditary Pancreatitis: A National Exhaustive Series
TLDR
Patients with HP have a marked relative and absolute increased risk of PA as compared to the general population, especially in smokers.
CFTR mutations in the Algerian population.
TLDR
This is the first study that includes a genetic and clinical evaluation of CF patients living in Algeria and uses a quantitative PCR technique (quantitative multiplex PCR short fragment fluorescence analysis) to screen for deletion/duplication in the 27 exons of the gene.
GBV‐C/hepatitis G virus (HGV) RNA load in immunodeficient individuals and in immunocompetent individuals
TLDR
The most frequent pattern of evolution of the plasma GBV‐C/HGV RNA load was as follows: after the primary GBV-C‐HGV infection, the viral load was elevated from the onset; then, a high, persistent and relatively steady viral RNA level was the rule.
The hereditary pancreatitis gene maps to long arm of chromosome 7.
TLDR
A large French family from a four-generation kindred with HP has been examined and a genome segregation analysis of highly informative microsatellite markers has been performed, indicating the most likely order for the Hereditary Pancreatitis Gene (HPG) is D7S 640-D 7S 495-D7S 684-D8S 661-D9S 676-D6S 688, with the HP gene situated in the underlined region.
Hereditary pancreatitis caused by triplication of the trypsinogen locus
TLDR
This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.
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