Va Lip

TL;DR: The possibility that ICSI may interfere with the establishment of the maternal imprint in the oocyte or pre-embryo is discussed, and it is reported two children who were conceived by intracytoplasmic sperm injection and who developed Angelman syndrome are reported.

TL;DR: The hypothesis that galactosemia is a progressive neurodegenerative disease is not supported, however, greater attention to depression, anxiety, and social relationships may relieve the impact of this disorder in adults.

TL;DR: A simple and rigorous method for efficient PCR-based sequence analysis of Cx26 is a sensitive clinical assay for evaluating deaf children and is likely to identify additional pathogenic mutations and lead to a better understanding of the clinical significance of previously identified mutations.

TL;DR: DNA capture followed by next-generation sequencing of the translocation breakpoints revealed disruption of a single noncoding gene on chromosome 2, LINC00299, whose RNA product is expressed in all tissues measured, but most abundantly in brain.

TL;DR: The data show that mutation analysis of the SLC26A4 gene is of high diagnostic yield among subjects with deafness and bilateral EVA in both China and the U.S. However, the pathogenicity of monoallelic SLC 26A 4 gene variants in patients with hearing loss remains unclear in many instances.