الرئيسية › دليل الباحثين › Agnès Guichet

Agnès Guichet

الانتماء : Centre National de la Recherche Scientifique · Inserm · Centre Hospitalier Universitaire d'Angers · Mitochondrial and Cardiovascular Physiopathology · Université d'Angers

• 7منشورات (انتماء فرنسي)
• 99مجموع المنشورات
• 3467الاستشهادات
• 32مؤشر h

OpenAlex

مجالات البحث

• Genomics and Rare Diseases
• Prenatal Screening and Diagnostics
• Genomic variations and chromosomal abnormalities
• Genetics and Neurodevelopmental Disorders
• Hereditary Neurological Disorders

المنشورات (7)

• Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion
  2026 · Ophthalmology Science
• Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation
  2025 · Ocular Immunology and Inflammation · استُشهد به 4 مرة
• First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array
  2024 · Archives de Pédiatrie · استُشهد به 4 مرة
• Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters
  2023 · Journal of genetics and genomics/Journal of Genetics and Genomics · استُشهد به 4 مرة
• Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
  2021 · Molecular Neurodegeneration · استُشهد به 13 مرة
• Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
  2020 · Molecular Biology Reports · استُشهد به 8 مرة
• Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia
  2012 · Human Reproduction · استُشهد به 58 مرة

مجلات النشر

• Ophthalmology Science × 1
• Ocular Immunology and Inflammation × 1
• Archives de Pédiatrie × 1
• Journal of genetics and genomics/Journal of Genetics and Genomics × 1
• Molecular Neurodegeneration × 1
• Molecular Biology Reports × 1

المنشورات حسب السنة

• 20261
• 20251
• 20241
• 20231
• 20211
• 20201
• 20121

التعاون العلمي

المؤسسات الشريكة : Université Joseph Fourier · Université Grenoble Alpes · Centre Hospitalier Universitaire de Grenoble · Andrology Gerontechnology Inflammation Modelisation · Institut pour l'avancée des biosciences

بلدان المؤلفين المشاركين : المغرب · تونس · إيران

المؤلفون المشاركون

• Guy Lenaers
• Patrizia Amati‐Bonneau
• Dominique Bonneau
• Pascal Reynier
• Laëtitia Hesters
• Céline Bris
• Christophe Arnoult
• Charles Coutton
• Véronique Satre
• Majida Charif
• Nathalie Rives
• Vincent Procaccio

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).