📇 Rhumatologue · NEUILLY PLAISANCE · (93) · Libéral

M Saddek MOHAND-SAID

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3 raisons identifiées

Auteur de référence en rhumatologie
30 articles scientifiques publiés — un praticien à la pointe de la recherche
Cabinet de groupe — continuité de soins
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Délais de RDV courts dans la région
78.3 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 NEUILLY PLAISANCE (93)LibéralRPPS 10001544146

📊 Reconnaissance scientifique : 46/100📝 252 articles publiés🇫🇷 Publications académiques françaises (8)

✨ 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.

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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

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

European journal of human genetics : EJHG · 2016

📚 90 citations🎯 RCR 3.81Top 12% NIH🔓 Open Access📄 PDF gratuit ↗

Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults

American journal of ophthalmology · 2017

📚 69 citations🎯 RCR 3.09Top 15% NIH

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8

The British journal of ophthalmology · 2019

📚 55 citations🎯 RCR 2.74Top 18% NIH🔓 Open Access📄 PDF gratuit ↗

Lire l'abstract Crossref ↓

Background/aims To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency. Methods 345 participants with a clinical diagnosis of STGD1 and harbouring at least one disease-causing ABCA4 variant were enrolled from 9 centres in the USA and Europe. All variants were reviewed and in silico analysis was performed including allele frequency in public databases and pathogenicity predictions. Participants with multiple likely pathogenic variants were classified into four national subgroups (USA, UK, France, Germany), with subsequent comparison analysis of the allele frequency for each prevalent allele. Results 211 likely pathogenic variants were identified in the total cohort, including missense (63%), splice site alteration (18%), stop (9%) and others. 50 variants were novel. Exclusively missense variants were detected in 139 (50%) of 279 patients with multiple pathogenic variants. The three most prevalent variants of these patients with multiple pathogenic variants were p.G1961E (15%), p.G863A (7%) and c.5461-10 T>C (5%). Subgroup analysis revealed a statistically significant difference between the four recruiting nations in the allele frequency of nine variants. Conclusions There is a large spectrum of ABCA4 sequence variants, including 50 novel variants, in a well-characterised cohort thereby further adding to the unique allelic heterogeneity in STGD1. Approximately half of the cohort harbours missense variants only, indicating a relatively mild phenotype of the ProgStar cohort. There are significant differences in allele frequencies between nations, although the three most prevalent variants are shared as frequent variants.

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M Saddek MOHAND-SAID

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Activité de recherche & publications

Publications académiques en France

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Tarifs & secteur de conventionnement

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Top publications · les plus citées

Publications scientifiques (30) — classées par pathologie

Transversal17

Génétique4

Pharmacovigilance3

Épidémiologie & registres2

Essai clinique2

Qualité de vie / PROMs1

Revue générale1

Santé mentale / fatigue1

Vraie vie / RWE1

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