Associated Papers
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s001.xlsx › Feuil2
The Genetics and Biology of FOXL2.
Tucker EJ
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
FOXL2 directs DNA double-strand break repair pathways by differentially interacting with Ku.
Jin H et al.
Nature Communications, 2020
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
Castets S et al.
Hormone Research in Paediatrics, 2020
Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.
Dipietromaria A et al.
Human Molecular Genetics, 2009
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E et al.
American Journal of Human Genetics, 2003
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.
Kosaki K et al.
Ophthalmic Genetics, 2002
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Crisponi L et al.
Nature Genetics, 2001
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