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Le rôle des altérations de FOXL2 dans les insuffisances ovariennes prématurées syndromiques et non syndromiques

Annales d'endocrinologie, 2010-05, Vol.71 (3), p.214-214

De Baere, E

2010

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Role of FOXL2 impairment in syndromic and non-syndromic premature ovarian failure (POF)

Annales d'endocrinologie, 2010-05, Vol.71 (3), p.214

De Baere, E

2010

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Evolution and expression of FOXL2

Journal of medical genetics, 2002-12, Vol.39 (12), p.916-921

2002

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Human molecular genetics, 2001-07, Vol.10 (15), p.1591-1600

2001

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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

American journal of human genetics, 2005-08, Vol.77 (2), p.205-218

2005

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Non‐coding variation in disorders of sex development

Clinical genetics, 2017-02, Vol.91 (2), p.163-172

2017

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Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study

Bone (New York, N.Y.), 2015-12, Vol.81, p.89-96

2015

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Structure, evolution and expression of the FOXL2 transcription unit

Cytogenetic and genome research, 2003, Vol.101 (3-4), p.206-211

2003

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FOXL2 mutation screening in a large panel of POF patients and XX males

Journal of medical genetics, 2002-08, Vol.39 (8), p.e43-43

2002

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FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

Human reproduction (Oxford), 2010-01, Vol.25 (1), p.235-243

2010

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Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series

Human reproduction open, 2023-09, Vol.2023 (4)

2023

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Genotypes & Phenotypes in Belgian Patients with Albinism

Acta ophthalmologica (Oxford, England), 2015-10, Vol.93 (S255), p.n/a

2015

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Female heterozygotes of X‐linked ocular disease in the era of molecular diagnostics

Acta ophthalmologica (Oxford, England), 2015-10, Vol.93 (S255), p.n/a

2015

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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

Acta ophthalmologica (Oxford, England), 2016-10, Vol.94 (S256), p.n/a

2016

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A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation

Journal of medical genetics, 2004-12, Vol.41 (12), p.932-936

2004

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A common NYX mutation in Flemish patients with X linked CSNB

British journal of ophthalmology, 2009-05, Vol.93 (5), p.692-696

2009

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1426 Deletion of hoxc13 in frogs reveals key steps in the molecular evolution of cornified skin appendages

Journal of investigative dermatology, 2023-05, Vol.143 (5), p.S244-S244

2023

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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Human mutation, 2010-05, Vol.31 (5), p.E1332-E1347

2010

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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

American journal of human genetics, 2008-01, Vol.82 (1), p.19-31

2008

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PVI-29 Evaluation of Robogene Hepatitis D Virus (HDV) Quantification Kit in combination with different RNA extraction procedures

Journal of clinical virology, 2009, Vol.46, p.S37-S37

2009

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Recommendations for whole genome sequencing in diagnostics for rare diseases

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1017-1021

2022

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Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases

Annals of the rheumatic diseases, 2019-03, Vol.78 (3), p.311

2019

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PVI-30 Comparison of Murex anti-Delta (Total) and ETI-AB-DELTAK-2 ELISAs for the detection of total antibodies against hepatitis D virus

Journal of clinical virology, 2009, Vol.46, p.S37-S37

2009

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Application of periodic boundary conditions on multiple part finite element meshes for the meso-scale homogenization of textile fabric composites

Composites science and technology, 2014-02, Vol.92, p.41-54

2014

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Le rôle des altérations de FOXL2 dans les insuffisances ovariennes prématurées syndromiques et non syndromiques

Role of FOXL2 impairment in syndromic and non-syndromic premature ovarian failure (POF)

Evolution and expression of FOXL2

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

Non‐coding variation in disorders of sex development

Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study

Structure, evolution and expression of the FOXL2 transcription unit

FOXL2 mutation screening in a large panel of POF patients and XX males

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series

Genotypes & Phenotypes in Belgian Patients with Albinism

Female heterozygotes of X‐linked ocular disease in the era of molecular diagnostics

Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation

A common NYX mutation in Flemish patients with X linked CSNB

1426 Deletion of hoxc13 in frogs reveals key steps in the molecular evolution of cornified skin appendages

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

PVI-29 Evaluation of Robogene Hepatitis D Virus (HDV) Quantification Kit in combination with different RNA extraction procedures

Recommendations for whole genome sequencing in diagnostics for rare diseases

Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases

PVI-30 Comparison of Murex anti-Delta (Total) and ETI-AB-DELTAK-2 ELISAs for the detection of total antibodies against hepatitis D virus

Application of periodic boundary conditions on multiple part finite element meshes for the meso-scale homogenization of textile fabric composites

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

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