J. Vandewalle

发表

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

Reply : Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure

G. Froyen, J. Vandewalle, R. Scott, 2010 .

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

P. Marynen, H. Van Esch, C. Spaich, 2009, American journal of human genetics.

Detection and validation of copy number variation in X-linked mental retardation

P. Marynen, H. Van Esch, H. Esch, 2009, Cytogenetic and Genome Research.

Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Drosophila Model for Intellectual Disability

Bassem A. Hassan, Marion Langen, P. Verstreken, 2013, PloS one.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.