Ataxia–telangiectasia (AT) is a progressive neurodegenerative disorder, with onset in early
childhood and a frequency of approximately 1 in 40,000 births in the United States. AT is …

Much progress has been made in the early diagnosis of ataxia-telangiectasia since the gene
was cloned in 1995. A clinical diagnosis can now be confirmed by radiosensitivity testing …

Antisense morpholino oligonucleotides (AMOs) can reprogram pre-mRNA splicing by
complementary binding to a target site and regulating splice site selection, thereby offering a …

Abstract Ataxia‐telangiectasia (A‐T) is an autosomal recessive neurological disorder
caused by mutations in the ATM gene. Classical splicing mutations (type I) delete entire …

The Gypsies (a misnomer, derived from an early legend about Egyptian origins) defy the
conventional definition of a population: they have no nation‐state, speak different …

ABSTRACT Introduction: Ataxia-telangiectasia (AT) a multisystem disorder primarily
characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer …

The first description of patients with ataxia–telangiectasia (AT) was published in French in
1926 by the internist Ladislav Syllaba and the neurologist Kamil Henner (Syllaba and …

Simple Summary A significant proportion of families with a clinical suggestion of Lynch
syndrome and screened for the known MMR genes remain without a molecular diagnosis …

The functional consequences of missense variants are often difficult to predict. This
becomes especially relevant when DNA sequence changes are used to determine a …

Primary immunodeficiencies (PIDs) are genetic disorders of the immune system comprising
many different phenotypes. Although previously considered rare, recent advances in their …