D. Beysen

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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

G Mortier, T Callens, G. Mortier, 2000, Human mutation.

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

H. Muhle, R. Møller, D. Beysen, 2022, Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example

B. Ogunjimi, K. Janssens, D. Beysen, 2021, Frontiers in Neurology.

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

D. Beysen, F. Kooy, M. Meuwissen, 2019, European journal of medical genetics.

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

R. Veitia, A. De Paepe, D. Beysen, 2008, Human molecular genetics.

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction

R. Veitia, D. Beysen, E. Baere, 2006, Human Genetics.

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

J. Lupski, B. Menten, P. Lapunzina, 2013, PLoS genetics.

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Stylianos E. Antonarakis, Filip Pattyn, Frank Speleman, 2009, PLoS genetics.

FOXL2 mutations and genomic rearrangements in BPES

A. De Paepe, D. Beysen, E. de Baere, 2009, Human mutation.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)

B. Grisart, H. Stewart, G. Mancini, 2015, Clinical genetics.

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 .

Clinical Investigation of French Maritime Pine Bark Extract on Attention-Deficit Hyperactivity Disorder as compared to Methylphenidate and Placebo: Part 2: Oxidative Stress and Immunological Modulation

B. Ceulemans, D. Beysen, I. De Meester, 2022, Journal of Functional Foods.

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 .

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

H. Muhle, R. Møller, D. Beysen, 2022, Neurotherapeutics.

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.

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

J. Hellemans, G. Haegeman, D. Beysen, 2007, American journal of human genetics.

Clinical Investigation of French Maritime Pine Bark Extract on Attention-Deficit Hyperactivity Disorder as compared to Methylphenidate and Placebo: Part 1: Efficacy in a Randomised Trial

B. Ceulemans, D. Beysen, A. Verlaet, 2022, Journal of Functional Foods.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

The human FOXL2 mutation database

J. Vandesompele, A. De Paepe, L. Messiaen, 2004, Human mutation.

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

P. Verloo, B. Ceulemans, D. Beysen, 2020, Frontiers in Genetics.

FOXL2 mutations and genomic rearrangements in BPES

A. De Paepe, D. Beysen, E. de Baere, 2009, Human mutation.

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

J. Lupski, B. Menten, P. Lapunzina, 2011 .

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.

R. Veitia, S. Caburet, D. Beysen, 2005, Pediatric endocrinology reviews : PER.

A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings

D. Beysen, W. Dewals, L. Claes, 2022, Neuropediatrics.