Lista de obras - Charles E. Schwartz - Dominio Público Uruguay

-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

artículo científico publicado en 2018

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

artículo científico publicado en 2003

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

artículo científico publicado en 2008

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

artículo científico publicado en 2020

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

artículo científico publicado en 2015

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

artículo científico publicado en 2006

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders

article

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots

artículo científico publicado en 2014

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

artículo científico publicado en 2022

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

artículo científico publicado en 2012

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

scientific article published on 23 July 2020

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

artículo científico publicado en 2010

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants