Imprinted genes represent a curious defiance of normal Mendelian genetics. Mammals
inherit two complete sets of chromosomes, one from the mother and one from the father, and …

Genomic imprinting is a special form of epigenetic system that determines the parent-of-
origin-specific, or monoallelic, expression of a small number of genes, termed" imprinted" …

The introduction of intracytoplasmic sperm injection (ICSI) has raised concern about safety
in terms of a possible increase in the incidence of major congenital malformations …

EDITOR—Deficiency of phosphorylase kinase (Phk), a regulatory protein kinase in glycogen
metabolism, is the most frequent cause of hepatic glycogen storage disease (GSD). Patients …

Recent studies have focused on the identification of imprinting centers and on the
elucidation of the mechanisms by which they control imprinting. These studies begin to shed …

Here we describe the genetic studies performed in 53 patients with the suspected diagnosis
of Prader-Willi syndrome (PWS). PWS is characterized by neonatal hypotonia …

Among 25 patients diagnosed with Angelman syndrome, we detected 21 with deletion and 4
with paternal uniparental disomy (UPD), 2 isodisomies originating by postzygotic error, and …

Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene (s)
on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb …

Objective: to describe 6 patients with less than 3 years of age that were diagnosed with
Prader-Willi syndrome (PWS) due to hypotonia, poor sucking, slight facial anomalies and …

Objetivos: Descrever 6 pacientes com menos de 3 anos de idade que foram diagnosticados
como afetados pela síndrome de Prader-Willi (PWS) devido a hipotonia, dificuldade de …