Anne-Sophie Jannot

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CARD15/NOD2 encodes a protein involved in bacterial recognition by monocytes. Mutations in CARD15 have recently been found in patients with Crohn disease (CD), a chronic inflammatory condition of the digestive tract. Here, we report the mutational analyses of CARD15 in 453 patients with CD, including 166 sporadic and 287 familial cases, 159 patients with(More)
The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or controls, we demonstrate the ubiquity of a >4-fold susceptibility from a C-->T allele (rs2435357: p = 3.9 x 10(-43) in European ancestry; p = 1.1 x 10(-21) in Chinese samples) that(More)
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription thereby reducing expression of the protein. However, genotype-phenotype correlation is imperfect, and the(More)
Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations with high penetrance are found (45% of HSCR familial cases).(More)
BACKGROUND AND OBJECTIVES The estimated GFR (eGFR) is important in clinical practice. To find the best formula for eGFR, this study assessed the best model of correlation between sinistrin clearance (iGFR) and the solely or combined cystatin C (CysC)- and serum creatinine (SCreat)-derived models. It also evaluated the accuracy of the combined Schwartz(More)
The occuloalbinism 2 (OCA2) gene, localized at 15q11, encodes a melanosomal transmembrane protein that is involved in the most common form of human occulo-cutaneous albinism, a human genetic disorder characterized by fair pigmentation and susceptibility to skin cancer. We wondered whether allele variations at this locus could influence susceptibility to(More)
OBJECTIVE Statistically significant studies may be cited more than negative studies on the same topic. We aimed to assess here whether such citation bias is present across the medical literature. STUDY DESIGN AND SETTING We conducted a cohort study of the association between statistical significance and citations. We selected all therapeutic intervention(More)
AIMS To investigate the temporal trends in profile and outcomes of adults with congenital heart disease (ACHD) undergoing heart transplantation (HT). METHODS AND RESULTS Out of a multi-institutional series of 2257 HT from 1988 to 2012, 100 HT were performed in 97 ACHD. We evaluated clinical characteristics, underlying defect, surgical history,(More)
Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these additional factors, we performed a dose-dependent association study on chromosome 21 in Down syndrome patients(More)
BACKGROUND Portal vein embolization (PVE) is used before extensive hepatic resections to increase the volume of the future remnant liver within acceptable safety margins (conventionally >0.6% of the patient's weight). The objective was to determine whether pre-operative PVE impacts on post-operative liver function independently from the increase in liver(More)