MME Anne ABEL

Rhumatologue

RPPS 10001508844

📊 Reconnaissance scientifique : 12/100📝 35 articles publiés🇫🇷 Publications académiques françaises (1)

✨ Génération du profil synthétique IA en cours…

Activité de recherche & publications

Indicateurs publics agrégés sur 250 M+ d'œuvres scientifiques (OpenAlex, PubMed). Traduits ici en langage patient.

Influence scientifique

12 articles ont été cités au moins 12fois par d'autres chercheurs — preuve que ses travaux sont repris par la communauté médicale.

Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.

Top publications · les plus citées

Critical review: Typical and atypical optic neuritis

Survey of ophthalmology · 2019

📚 95 citations🎯 RCR 6.07Top 6% NIH

Genetic epidemiology of neuroblastoma: a study of 426 cases at the Institut Gustave-Roussy in France

Pediatric blood & cancer · 2004

📚 26 citations

Lire l'abstract Crossref ↓

AbstractBackgroundGenetic susceptibility to neuroblastoma (NB) is now highly probable and the likelihood that it may also confer a higher risk of other cancer types has been suggested. The aim of this study was to estimate the fraction of inherited cases and penetrance associated with a carrier status, and to investigate the hypothesis that susceptibility cancer genes might be non‐specific.ProcedureThe family history of 426 children treated for NB at the Institut Gustave Roussy was obtained. The excess of relatives affected by NB or early‐onset cancer (EOC) was sought using the standardized incidence ratio (SIR). The risk of NB among sibs was estimated taking into account the age of patients' sibs. Estimation of penetrance in hereditary cases and of the proportion of sporadic cases was obtained using segregation analysis of proband sibships.ResultsThere was a positive family history of NB or ganglioneuroma in 5 of the 426 cases (1.2%). A highly significant excess of NB was found among relatives (SIR = 11.4, 95% CI: 3.7–26.5). The excess of EOC (SIR = 1.22, 95% CI = 0.92–1.58) was non‐significant, but it was of borderline significance among first‐degree relatives (SIR = 1.70, 95% CI = 0.99–2.72). The risk of NB among sibs was estimated at 0.2% (95% CI = 0.004–1.0%). Penetrance in hereditary cases was estimated at 11.4% and the proportion of inherited cases, 3.5%.ConclusionsThe genetic factors heightening susceptibility to NB are most probably dominantly inherited with low penetrance and are involved in only a very small fraction of NB patients. The overall risk in sibs is very low and this should reassure parents with regard to their other children. We found some arguments for the existence of non‐specific genetic susceptibility, which would slightly in crease the probability of developing any cancer. © 2003 Wiley‐Liss, Inc.

Effect of patient positioning on cerebrospinal fluid opening pressure

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society · 2014

📚 20 citations🎯 RCR 1.08

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MME Anne ABEL

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Activité de recherche & publications

Publications académiques en France

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Publications scientifiques (13) — classées par pathologie

Transversal4

Case report / série2

Lupus2

Revue générale2

Connectivite mixte1

csDMARDs1

Génétique1

Pédiatrie1

SAPL1

Sclérodermie1

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