Associated Papers
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P et al.
Clinical Genetics, 2024
Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.
Yang X et al.
Frontiers in Medicine, 2023
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Quaio CRD'C et al.
Scientific Reports, 2022
The Genetics and Biology of FOXL2.
Tucker EJ
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The multisystemic functions of FOXD1 in development and disease.
Quintero-Ronderos P et al.
Journal of Molecular Medicine (berlin, Germany), 2018
The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2.
Elzaiat M et al.
Clinical Genetics, 2017
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 2015
The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients.
Fan J et al.
Human Reproduction (oxford, England), 2012
The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology.
Caburet S et al.
Molecular and Cellular Endocrinology, 2012
FOXL2 impairment in human disease.
Verdin H et al.
Hormone Research in Paediatrics, 2012
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.
Laissue P et al.
Journal of Medical Genetics, 2009
The transcription factor FOXL2 in ovarian function and dysfunction.
De Baere E et al.
Folia Histochemica Et Cytobiologica, 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
FOXL2 mutation screening in a large panel of POF patients and XX males.
De Baere E et al.
Journal of Medical Genetics, 2002