COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults
Dominique Hervé, Saskia A. J. Lesnik Oberstein, Eva Pipiras, S. Kittner et autres
3 citationsStroke
Elisabeth Tournier‐Lasserve
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349Publications signalées
25472Citations signalées
5Affiliations récentes
Institutions déclarées
Domaines associés
Cerebrovascular and genetic disordersMoyamoya disease diagnosis and treatmentVascular Malformations Diagnosis and TreatmentIntracranial Aneurysms: Treatment and ComplicationsIntracerebral and Subarachnoid Hemorrhage Research
Publications récentes
COL4A1- and COL4A2-Related Disorders—Clinical Features, Diagnostic Guidelines, and Management
Diana Tambala, Rachel Vassar, J. Snow, Simona Balestrini et autres
0 citations
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management
Diana Tambala, Rachel Vassar, J. Snow, Simona Balestrini et autres
20 citationsGenetics in Medicine
Benchmark of computational methods to detect digenism in sequencing data
Marie‐Sophie C. Ogloblinsky, Donald F. Conrad, Anaı̈s Baudot, Elisabeth Tournier‐Lasserve et autres
2 citationsEuropean Journal of Human Genetics
Identity-by-Descent Analysis Uncovering a Founder Event in a Novel Hereditary Small Vessel Cerebral Disease
Arnaud Maillard, Eva Pipiras, Philippe Jarnoux, Chaker Aloui et autres
0 citationsStroke
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel et autres
52 citationsThe Lancet Regional Health - Europe
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity
Thibault Coste, Chaker Aloui, Justine Chanclud, Éléonore Blondiaux et autres
2 citationsPrenatal Diagnosis
Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations
Sandro Benichi, Estelle Balducci, Joseph Benzakoun, Boulos Ghannam et autres
3 citationsBrain Communications
Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report
Antoine Garnier‐Crussard, Alexandre Bani‐Sadr, Isabelle Quadrio, Maïté Formaglio et autres
1 citationCerebral Circulation - Cognition and Behavior
ASSESSMENT OF RETINAL ARTERIOLAR TORTUOSITY IN PATIENTS WITH COL4A1 OR COL4A2 MUTATIONS
Valérie Krivosic, Paul Goupillou, F Buffon-Porcher, Hélène Morel et autres
1 citationRetina
Input of exome sequencing in early‐onset cerebral amyloid angiopathy
Lou Grangeon, Camille Charbonnier, Stéphane Rousseau, Anne Richard et autres
4 citationsAlzheimer s & Dementia Diagnosis Assessment & Disease Monitoring
PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis
Marie‐Sophie C. Ogloblinsky, Ozvan Bocher, Chaker Aloui, Anne‐Louise Leutenegger et autres
2 citationsGenetic Epidemiology
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