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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
(2017-08-30)
Objective: To expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD).
Methods: Patients with STXBP1 ...
Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder
(2017-09)
Abstract: We systematically analyzed post-zygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and ...
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
(2017-11-09)
Background:
Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe ...
Serum sonic hedgehog (SHH) and interleukin-(IL-6) as dual prognostic biomarkers in progressive metastatic breast cancer
(2017-05-11)
Abstract:
Serum from one hundred and ten breast cancer patients and thirty healthy female volunteers, were prospectively collected and evaluated for serum levels of Shh and IL-6 using human Shh and IL-6 specific enzyme-linked ...