about
A non-sense MCM9 mutation in a familial case of primary ovarian insufficiencyMutant Cohesin in Premature Ovarian FailureFunctional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments.Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads.The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2.Combing the genome for genomic instability.GermOnline, a cross-species community knowledgebase on germ cell differentiation.Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes.Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.Extensive sequence turnover of the signal peptides of members of the GDF/BMP family: exploring their evolutionary landscape.Generic binding sites, generic DNA-binding domains: where does specific promoter recognition come from?Forkhead transcription factors: key players in health and disease.The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology.A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase.The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles.The post-translational modification profile of the forkhead transcription factor FOXL2 suggests the existence of parallel processive/concerted modification pathways.A homozygous mutation of GNRHR in a familial case diagnosed with polycystic ovary syndrome.Human ribosomal RNA gene arrays display a broad range of palindromic structures.A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.Mechanisms of Mendelian dominance.[STAG3 in premature ovarian failure].STAG3 is a strong candidate gene for male infertility.A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaksTargeting the molecular mechanism of DNA replicationHomozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait
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description
researcher ORCID ID = 0000-0002-7404-8213
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wetenschapper
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S Caburet
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S Caburet
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S Caburet
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S Caburet
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P106
P31
P496
0000-0002-7404-8213