MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

Ralf Ulrich Trappe, Franco Laccone, Joana Cobilanschi, +4

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsMecp2 MutationsPathology +6

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Miriam Gordillo, Hugo Vega, Alison Trainer, +23

Human Molecular Genetics

GeneticsGenomic MechanismPathologyMolecular BiologyMolecular Genetics +21

Phenotypic variability in 49 cases of <i>ESCO2</i> mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with <i>ESCO2</i> expression and establishes the clinical criteria for Roberts syndrome

Horacio Astudillo‐de la Vega, Alison Trainer, Miriam Gordillo, +14

Journal of Medical Genetics

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

Franco Laccone, Peter Huppke, F. Hanefeld, +1

Human Mutation

Rett SyndromeGeneticsGenetic EpidemiologyPathologyMolecular Genetics +16

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn, +4

BMC Medical Genetics

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

Andreas Janecke, Moritz Meins, Mojy Sadeghi, +5

Human Mutation

Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease

Knut Brockmann, Peter Dechent, Moritz Meins, +5

Journal of Neurology

Infantile Alexander DiseaseNeurological DisorderNeuroanatomyMagnetic Resonance SpectroscopyNeurology +3

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Thomas Liehr, Markus Stümm, R.‐D. Wegner, +13

Cytogenetic and Genome Research

Characterization of the Human TBX20 Gene, a New Member of the T-Box Gene Family Closely Related to the Drosophila H15 Gene

Moritz Meins, Deborah J. Henderson, Shomi S. Bhattacharya, +1

Genomics

Developmental BiologyT-box Gene FamilyGeneticsGene StructureGenetic Mechanism +7

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

Ingrid Zwaenepoel, Elisabeth Verpy, S Blanchard, +4

Human Mutation