Parental origin of apparently balanced <i>de novo</i> complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite‐mediated haplotype analysis

Martina Höckner, Houda Karmous‐Benailly, Desheng Liang, +11

Clinical Genetics

Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Martina Höckner, Ana Spreiz, Anne Frühmesser, +10

Cytogenetic and Genome Research

Novel Mutation in Potassium Channel related Gene <i>KCTD7</i> and Progressive Myoclonic Epilepsy

Birgit Krabichler, Kevin Rostásy, Matthias Baumann, +9

Annals of Human Genetics

Formation of a familial ring chromosome 18 investigated by SNP‐array analysis

Johannes Zschocke, Dieter Kotzot, Mehmet Ali Ergün, +1

American Journal of Medical Genetics Part A

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

Anne Frühmesser, Jonathon Blake, Edda Haberlandt, +9

European Journal of Human Genetics

Developmental BiologyCell DivisionNeuroscienceNeuropathologyMedicine +3

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

Joke Vandewalle, Marijke Bauters, Hilde Van Esch, +17

Human Genetics

Mendelian DisorderNon-syndromic Intellectual DisabilityGenetic DisorderGeneticsFragile X Spectrum +5

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)

Ana Spreiz, Doris Müller, Sibylle Zotter, +7

American Journal of Medical Genetics Part A

Whole Genome Amplification from Microdissected Chromosomes

Martina Höckner, Martin Erdel, Ana Spreiz, +2

Cytogenetic and Genome Research

Multiple Displacement AmplificationCytogeneticsGeneticsDna AnalysisMolecular Biology +16

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

Ana Spreiz, Edda Haberlandt, Matthias Baumann, +11

Clinical Genetics

Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18

Ana Spreiz, Roberta Santos Guilherme, Claudio Castellan, +14

The Journal of Pediatrics

CytogeneticsGeneticsHuman PolymorphismMolecular BiologyChromosome Biology +4