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Guido Froyen

Katholieke Universiteit Leuven

53

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Breakpoint cloning of aberrations on the X chromosome: identification of an unusual type of recombination that results in a dosage-dependent severity of the phenotype

2010
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Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation

2010 American Journal of Medical Genetics Part A
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Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure

2010 Human Reproduction
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hybridisationarray-based comparative genome multiplex ligation-dependent probe amplification approach of microsatellite segregation analysis, craniosynostosis detected by a combined imbalances in patients with syndromic High frequency of submicroscopic chromosomal

2009
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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

2009 American Journal of Human Genetics
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A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders

2009 The Journal of Molecular Diagnostics
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X-linked congenital ataxia: A new locus maps to Xq25-q27.1

2008 American Journal of Medical Genetics Part A
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MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

2008 European Journal of Human Genetics
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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

2008 Journal of Medical Genetics
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Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

2007 Human Genetics
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