Elfride De Baere

Summary

Affiliation: Ghent University
Country: Belgium

Publications

  1. pmc FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    Elfride De Baere
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 72:478-87. 2003
  2. doi Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 29:E205-19. 2008
  3. doi Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
    Frauke Coppieters
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
    Genet Med 14:576-85. 2012
  4. doi Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
    Hum Mol Genet 17:2030-8. 2008
  5. doi Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome
    Christian E Decock
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Ophthal Plast Reconstr Surg 27:368-70. 2011
  6. pmc Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
    Hannah Verdin
    Center for Medical Genetics, Ghent University, Ghent, Belgium
    PLoS Genet 9:e1003358. 2013
  7. doi arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
    Caroline Van Cauwenbergh
    Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium
    Genet Med . 2016
  8. doi CEP290, a gene with many faces: mutation overview and presentation of CEP290base
    Frauke Coppieters
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 31:1097-108. 2010
  9. ncbi The human FOXL2 mutation database
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 24:189-93. 2004
  10. pmc Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening
    Barbara D'haene
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS Genet 5:e1000522. 2009

Detail Information

Publications44

  1. pmc FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    Elfride De Baere
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 72:478-87. 2003
    ..For missense mutations, no correlations can be made yet. Microdeletions are associated with mental retardation. We conclude that molecular testing may be carefully used as a predictor for POF risk in a limited number of mutations...
  2. doi Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 29:E205-19. 2008
    ..Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further clinical observations...
  3. doi Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
    Frauke Coppieters
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
    Genet Med 14:576-85. 2012
    ..Here, we developed a comprehensive molecular test for LCA based on targeted MPS of all exons of 16 known LCA genes...
  4. doi Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
    Hum Mol Genet 17:2030-8. 2008
    ....
  5. doi Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome
    Christian E Decock
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Ophthal Plast Reconstr Surg 27:368-70. 2011
    ..Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant complex eyelid malformation. The authors aim to offer an explanation for the lower eyelid malformation and propose a novel surgical approach to correct it...
  6. pmc Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
    Hannah Verdin
    Center for Medical Genetics, Ghent University, Ghent, Belgium
    PLoS Genet 9:e1003358. 2013
    ..Finally, our locus-centered study, elucidating the etiology of a large set of rare microdeletions involved in a monogenic disorder, can serve as a model for other clustered, non-recurrent microdeletions in genetic disease...
  7. doi arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
    Caroline Van Cauwenbergh
    Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium
    Genet Med . 2016
    ..Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina-expressed noncoding RNAs (ncRNAs)...
  8. doi CEP290, a gene with many faces: mutation overview and presentation of CEP290base
    Frauke Coppieters
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 31:1097-108. 2010
    ..To this end, we developed CEP290base, a locus-specific mutation database that links mutations with patients and their phenotypes (medgen.ugent.be/cep290base)...
  9. ncbi The human FOXL2 mutation database
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 24:189-93. 2004
    ..Moreover, it will allow us to establish more accurate genotype-phenotype correlations, since clinical information is contained in the database...
  10. pmc Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening
    Barbara D'haene
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS Genet 5:e1000522. 2009
    ..4 kb deleted fragment. Overall, this study revealed the smallest distant deletion causing monogenic disease and impacts upon the concept of mutation screening in human disease and developmental disorders in particular...
  11. pmc Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
    Frauke Coppieters
    Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 31:E1709-66. 2010
    ..His758Pro, in one LCA patient with mild mental retardation and autism. These two AHI1 mutations might thus represent neurological modifiers of CEP290-related disease...
  12. doi NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
    Dorien Baetens
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Genet Med . 2016
    ..We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD)...
  13. pmc Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
    Kristof Van Schil
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Sci Rep 6:21307. 2016
    ..E150K, and typically associated with RP in general...
  14. doi Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus
    Basamat AlMoallem
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium Department of Ophthalmology, King Abdul Aziz University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 56:1701-10. 2015
    ..Here, we investigated the role of mutations and copy number variations (CNV) of FRMD7 and GPR143 in the molecular pathogenesis of IIN in 49 unrelated Belgian probands...
  15. doi An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
    Miriam Bauwens
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Hum Mutat 36:39-42. 2015
    ..In conclusion, V4 occurs in a high fraction of Belgian STGD1 patients and represents the first deep intronic founder mutation in ABCA4. This emphasizes the importance of augmented molecular genetic testing of ABCA4 in Belgian STGD1. ..
  16. doi Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1
    Barbara D'haene
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    J Clin Endocrinol Metab 95:3010-8. 2010
    ..Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis...
  17. doi FOXL2 mutations and genomic rearrangements in BPES
    Diane Beysen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 30:158-69. 2009
    ..Another challenge for health care professionals involved in BPES is the treatment of the eyelid phenotype and the prevention or treatment of POF...
  18. pmc Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
    Frauke Coppieters
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Am J Hum Genet 81:147-57. 2007
    ....
  19. doi Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Christian E Decock
    Department of Ophthalmology, Ghent University Hospital, Belgium
    Arch Ophthalmol 129:1018-22. 2011
    ..To study the efficacy and clinical and anatomical results of supramaximal levator resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) with severe congenital ptosis with poor levator function (LF)...
  20. ncbi Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction
    Elfride De Baere
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Pediatr Endocrinol Rev 2:653-60. 2005
    ..In this manuscript we review the clinical features of BPES, its molecular basis, the structural and functional characteristics of the FOXL2 gene and protein, and known animal models...
  21. pmc Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
    Caroline Van Cauwenbergh
    Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium
    PLoS ONE 12:e0170038. 2017
    ..Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition...
  22. pmc Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
    Hannah Verdin
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
    Sci Rep 5:17667. 2015
    ..Finally, our 4C-seq interaction map of the SHOX region reveals a cis-regulatory domain spanning more than 1 Mb and harbouring putative new cis-regulatory elements...
  23. doi Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
    Kristof Van Schil
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Genet Med 17:291-9. 2015
    ..The aim of this study was to identify the genetic cause of early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy in a consanguineous family...
  24. pmc Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
    Hannah Verdin
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Orphanet J Rare Dis 9:26. 2014
    ....
  25. doi Discordance for retinitis pigmentosa in two monozygotic twin pairs
    Lieve V Berghmans
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Retina 31:1164-9. 2011
    ..Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with progressive degeneration of the retina. The condition can be inherited as an autosomal dominant, autosomal recessive, and X-linked trait...
  26. doi Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
    Barbara D'haene
    Center for Medical Genetics, Department of Ophthalmology, Ghen University Hospital, Ghent, Belgium
    Invest Ophthalmol Vis Sci 52:324-33. 2011
    ..The main purpose of this study was to assess the proportion of FOXC1 and PITX2 mutations and copy number changes in 80 probands with ASD...
  27. doi Colour Vision in Stargardt Disease
    Tine Vandenbroucke
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Ophthalmic Res 54:181-94. 2015
    ....
  28. pmc Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1
    Frauke Coppieters
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
    Hum Mutat 36:1188-96. 2015
    ....
  29. doi Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
    Kim De Leeneer
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
    Hum Mutat 36:379-87. 2015
    ..Although our platform was optimized for constitutional variant detection of monogenic disease genes, it is now also used as a model for somatic mutation detection in acquired diseases. ..
  30. doi Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
    Frauke Coppieters
    Center for Medical Genetics Ghent, Ghent University, Ghent, Belgium
    Genet Med 16:671-80. 2014
    ..We evaluated identity-by-descent-guided Sanger sequencing or whole-exome sequencing in 26 families with nonsyndromic (19) or syndromic (7) autosomal recessive retinal dystrophies to identify disease-causing mutations...
  31. doi Non-coding variation in Disorders of Sex Development
    Dorien Baetens
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Clin Genet . 2016
    ..The wide variety of non-coding defects found in DSD emphasizes that the regulatory landscape of known and to be discovered DSD genes has to be taken into consideration when investigating the molecular pathogenesis of DSD...
  32. doi A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa
    Kristof Van Schil
    Center for Medical Genetics Ghent University and Ghent University Hospital, Ghent, Belgium
    Invest Ophthalmol Vis Sci 56:7418-26. 2015
    ..To identify mutations in FAM161A underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch and Belgian populations and to investigate whether common FAM161A-associated phenotypic features could be identified...
  33. pmc Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development
    Dorien Baetens
    Center for Medical Genetics, Ghent University Hospital and Ghent University, Ghent, Belgium
    Orphanet J Rare Dis 9:209. 2014
    ..All others remain without a definitive diagnosis. The investigation of milder cases, as suggested by recent reports remains controversial...
  34. doi High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy
    Pieter Paul Schauwvlieghe
    Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium Department of Ophthalmology, Mount Sinai Medical Center, New York, New York Bannett Eye Center, Woodbury, New Jersey and Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium
    Retina 33:2118-25. 2013
    ..To describe the phenotype of three cases of Sjögren reticular dystrophy in detail, including high-resolution optical coherence tomography, autofluorescence imaging, and near-infrared reflectance imaging...
  35. doi Gender identity disorder in twins: a review of the case report literature
    Gunter Heylens
    Department of Sexology and Gender Problems, Ghent University Hospital, Ghent, Belgium
    J Sex Med 9:751-7. 2012
    ..The etiology of gender identity disorder (GID) remains largely unknown. In recent literature, increased attention has been attributed to possible biological factors in addition to psychological variables...
  36. doi FOXL2 impairment in human disease
    Hannah Verdin
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Horm Res Paediatr 77:2-11. 2012
    ..Finally, this might have potential implications for the understanding and treatment of frequent conditions such as POF and polycystic ovary syndrome...
  37. ncbi A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family
    Karel Decaestecker
    Department of Endocrinology, Ghent University Hospital, Ghent, Belgium
    Fertil Steril 89:1260.e3-7. 2008
    ..To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing and to offer carriership testing in female relatives should a disease-causing mutation be found...
  38. doi The transcription factor FOXL2 in ovarian function and dysfunction
    Elfride De Baere
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Folia Histochem Cytobiol 47:S43-9. 2009
    ..We briefly address these aspects in this review and hope that basic research around FOXL2 will eventually lead to uncover new therapeutic avenues...
  39. ncbi A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
    Jeyabalan Nallathambi
    Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, India
    Hum Genet 121:107-12. 2007
    ..This is the first study providing genetic evidence for a recessive inheritance of BPES associated with ovarian dysfunction...
  40. ncbi FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome
    Jeyabalan Nallathambi
    Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai 625 020, India
    J Genet 86:165-8. 2007
  41. ncbi Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman
    Daniel Baron
    Equipe Sexualite et Reproduction, INRA SCRIBE, Département PHASE, Campus de Beaulieu, 35042 Rennes Cedex, France
    Reprod Nutr Dev 45:377-82. 2005
    ..Particularly, we developed the study of the FOXL2 gene and its implication in genetic anomalies in goats (PIS mutation) and humans (BPES). We present the expression of FOXL2 in the ovaries of different species...
  42. pmc Compositional biases and polyalanine runs in humans
    Julie Cocquet
    INSERM E0021 and U361, Reproduction et Physiopathologie Obstetricale, Hopital Cochin, 75014 Paris, France
    Genetics 165:1613-7. 2003
    ....
  43. ncbi Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
    Suzanne Yzer
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 47:1167-76. 2006
    ....
  44. pmc Development of a genotyping microarray for Usher syndrome
    Frans P M Cremers
    Department of Human Genetics, and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 44:153-60. 2007
    ..Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons...