F. Meire

P. van Bogaert, J. de Zaeytijd, F. Meire, 2014, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Sorsby fundus dystrophy without a mutation in the TIMP-3 gene

P. D. de Jong, F. Meire, Jacqueline J M Assink, 2000, The British journal of ophthalmology.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

S. Bhattacharya, S. Daiger, J. Heckenlively, 2000, Molecular genetics and metabolism.

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

B. Menten, E. De Baere, C. Christophe, 2011, Molecular vision.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis

F. Meire, H. Carton, M. D'hooghe, 2000, Journal of Neurology.

Waardenburg syndrome

F. Meire, J. de Laey, L. Standaert, 2020, Definitions.

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

Yu Zhao, C. Weight, Zhenglin Yang, 2004, American journal of ophthalmology.

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

T. Langmann, M. Karlstetter, E. Baere, 2014, Genetics in Medicine.

Biometry in X linked megalocornea: pathognomonic findings.

F. Meire, J. Delleman, Françoise Meire, 1994, British Journal of Ophthalmology.

Osteoporosis-pseudoglioma syndrome.

A. De Paepe, L. Nuytinck, F. Meire, 1993, American journal of medical genetics.

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

S. Seneca, G. G. Van den Eynden, P. Jorens, 2012, Acta anaesthesiologica Scandinavica.

Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.

J. Martín, F. Meire, R. Van Coster, 1995, Ophthalmic genetics.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

A. Munnich, N. Boddaert, S. Hanein, 2009, American journal of human genetics.

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).

F. Meire, J. de Laey, S. De Bie, 1985, Ophthalmic paediatrics and genetics.

Vasoproliferative retinal tumors associated with peripheral chorioretinal scars in presumed congenital toxoplasmosis

F. Meire, B. Lafaut, A. Leys, 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

F. Meire, D. Donnai, R. Richardson, 2004, Journal of Medical Genetics.

MUTATION IN BRIEF HUMAN MUTATION

F. Meire, U. Kellner, A. Gal, 2017 .

Isolated Norrie disease in a female caused by a balanced translocation t(X,6).

F. Speleman, F. Meire, B. Lafaut, 1998, Ophthalmic genetics.

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome

F. Meire, U. Kellner, A. Gal, 1996, Human mutation.

The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time.

G. Vrensen, F. Meire, P. Wijermans, 1990, Ophthalmic paediatrics and genetics.

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

T. de Ravel, I. Casteels, E. Sorokina, 2014, Orphanet Journal of Rare Diseases.

Homozygous and Compound-heterozygous Type I Plasminogen Deficiency Is a Common Cause of Ligneous Conjunctivitis

U. Ozcelik, F. Meire, V. Schuster, 2001, Thrombosis and Haemostasis.

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

F. Riemslag, F. Cremers, W. Berger, 2005, Investigative ophthalmology & visual science.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Corneal Opacities in the Hallermann-Streiff Syndrome

F. Meire, J. Schuil, F. Roulez, 2008, Ophthalmic genetics.

Corneal decompensation in a boy with Kearns-Sayre syndrome

F. Meire, F. Boonstra, I. Claerhout, 2002, Ophthalmic genetics.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

T. de Ravel, H. Van Esch, I. Casteels, 2010, Human mutation.

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

P. D. de Jong, F. Meire, M. V. van Schooneveld, 2005, Journal of Medical Genetics.

Megalocornea

F. Meire, Françoise M. Meire, 2005, Documenta Ophthalmologica.

Orbital lymphangioma: clinical features and management.

F. Meire, P. Kalisa, B. Van Zieleghem, 2001, Bulletin de la Societe belge d'ophtalmologie.

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

M. Abramowicz, K. David, F. Meire, 2007, Journal of Medical Genetics.

Imaging Studies in the Diagnostic Workup of Neonatal Nasal Obstruction

G. Mortier, P. Govaert, F. Meire, 2001, Journal of computer assisted tomography.

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

T. de Ravel, B. Menten, I. Casteels, 2011, Investigative ophthalmology & visual science.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Autosomal dominant congenital miosis with megalocornea.

F. Meire, J. Delleman, Jw Delleman, 1992, Ophthalmic paediatrics and genetics.

Chiasmal misrouting and foveal hypoplasia without albinism

F. Riemslag, F. Hoeben, M. Genderen, 2006, British Journal of Ophthalmology.

Development of independent locomotion in children with a severe visual impairment.

E. Ortibus, S. Truijen, A. Hallemans, 2011, Research in developmental disabilities.

Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy

F. Meire, M. V. van Genderen, M. Ens-Dokkum, 2000, Ophthalmic genetics.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

J. Cruysberg, T. de Ravel, A. D. den Hollander, 2006, Investigative ophthalmology & visual science.

The key role of electrophysiology in the diagnosis of visually impaired children.

F. Riemslag, F. Hoeben, F. Meire, 2006, Acta ophthalmologica Scandinavica.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

C. Rivolta, T. Langmann, P. Farinelli, 2016, American journal of human genetics.

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

R. Axton, J. Love, F. Meire, 1999, Human molecular genetics.

Chromosome 13 q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13 q

L. Farrer, C. Baldwin, A. Read, 2022 .

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

K. Devriendt, S. Janssens, S. Walraedt, 2015, Investigative ophthalmology & visual science.

A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.

D. Schorderet, F. Meire, F. Munier, 2009, Ophthalmology.

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

K. Devriendt, G. Mortier, E. Jabs, 2001, Human molecular genetics.

Molecular analysis in a large cohort of patients with anterior segment malformations: expanding the spectrum of FOXC1/PITX2 mutations and copy number changes

B. Menten, I. Casteels, R. Oldenburg, 2010 .

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

E. Tobias, B. Lorenz, J. Hurst, 2019, Genetics in Medicine.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Mark T. Handley, I. Temple, P. Clouston, 2016, American journal of human genetics.

Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

R. Veitia, M. De Bruyne, F. Coppieters, 2015, Human mutation.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

J. Raes, Y. Peer, Y. van de Peer, 2005, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

T. de Ravel, K. Dahan, M. de Rademaeker, 2015, Human mutation.

Retinal Manifestations in Fibromuscular Dysplasia

F. Meire, J. De Laey, L. Schuddinck, 1991, European journal of ophthalmology.

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

M. Abramowicz, F. Meire, J. Désir, 2010, European Journal of Human Genetics.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2003 .

Ocular manifestations of congenital Marfan syndrome with contractures (CMC syndrome).

F. Meire, E. Bleeker-Wagemakers, W. J. Delleman, 1991, Ophthalmic paediatrics and genetics.

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.

F. Cremers, C. Hoyng, Zhenglin Yang, 2004, Investigative ophthalmology & visual science.

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

A. Verloes, F. Meire, H. Journel, 1993, American journal of medical genetics.

The endoscopic approach for congenital nasolacrimal duct obstruction.

F. Meire, R. van Weissenbruch, P. Kestelyn, 1997, Clinical otolaryngology and allied sciences.

Chromosome aberrations in fibrous dysplasia.

F. Speleman, R. Sciot, H. van den Berghe, 1994, Cancer genetics and cytogenetics.

Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases.

F. Meire, M. Craen, J. Schuil, 2001, Bulletin de la Societe belge d'ophtalmologie.

Use of mitomycin C and r-tPA for the management of conjunctival membrane and cataracts in a child with conjunctivitis lignosa

F. Meire, I. Claerhout, P. Kestelyn, 2000, The British journal of ophthalmology.

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

J. Vandesompele, J. Hellemans, F. Pattyn, 2012, Genetics in Medicine.

DNA carrier detection in X‐linked progressive cone dystrophy

F. Meire, A. Bergen, E. J. M. Schuurman, 1994, Clinical genetics.

X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.

F. Meire, A. Bergen, J. Delleman, 1994, The British journal of ophthalmology.

Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3.

G. van Ommen, F. Meire, A. Bergen, 1993, Genomics.

Gene conversion between red and defective green opsin gene in blue cone monochromacy.

P. Willems, F. Meire, E. Reyniers, 1995, Genomics.

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

M. Kamermans, F. Riemslag, M. McCall, 2009, American journal of human genetics.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

NON-GENETIC CAUSES OF VISUAL IMPAIRMENT IN EARLY CHILDHOOD.

F. Meire, J. J. Laey, 1986 .

Ocular perforation in utero.

F. Meire, J. de Laey, R. Van Oye, 1995, Bulletin de la Societe belge d'ophtalmologie.

Uncommon Leber “Plus” Disease Associated With Mitochondrial Mutation m.11778G>A in a Premature Child

V. Benoit, I. Maystadt, F. Meire, 2014, Journal of child neurology.

Persisting chloroquine-induced myasthenia?

F. Meire, J. De Reuck, J. D. De Bleecker, 1991, Acta clinica Belgica.

Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases.

F. Meire, M. V. van Genderen, J. Schuil, 1997, Ophthalmic Genetics.

Hereditary ectopia lentis. A series of 10 cases of ectopia lentis et pupillae.

F. Meire, 1991, Bulletin de la Societe belge d'ophtalmologie.

with juvenile retinitis pigmentosa genes in patients RPGRIP1 , and GUCY2D, RPE65 AIPL1, CRB1, Identification of mutations in the

F. Meire, A. Bergen, R. Florijn, 2006 .

A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

S. Seneca, L. de Meirleir, W. Lissens, 2001, Archives of neurology.

Subretinal fibrosis in Stargardt’s disease

F. Meire, J. J. Laey, 1998 .

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

T. Meitinger, B. Lorenz, K. Zerres, 1994, American journal of human genetics.

Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.

I. Casteels, A. Verloes, F. Meire, 1996, Bulletin de la Societe belge d'ophtalmologie.

Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.

F. Riemslag, P. D. de Jong, F. Meire, 1996, Journal of medical genetics.

Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

F. Meire, A. Bergen, P. Kestelyn, 1994, Journal of medical genetics.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNAâ€“protein interaction

E. Tobias, P. Calvas, J. Marsh, 2019 .

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

X-linked megalocornea. Ocular findings and linkage analysis.

F. Meire, A. Gal, E. Bleeker-Wagemakers, 1991, Ophthalmic paediatrics and genetics.

Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy

M. Genderen, F. Meire, M. Ens-Dokkum, 2000, Ophthalmic genetics.

Chiasmal misrouting and foveal hypoplasia without

F. Riemslag, F. Hoeben, F. Meire, 2006 .

Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.

F. Meire, J. Leroy, A. Smets, 1996, American journal of medical genetics.