Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

European journal of medical genetics - 1 Oct 2018

Pesz Karolina, Pienkowski Victor Murcia, Pollak Agnieszka, Gasperowicz Piotr, Sykulski Maciej, Kosińska Joanna, Kiszko Magdalena, Krzykwa Bogusława, Bartnik-Głaska Magdalena, Nowakowska Beata, Rydzanicz Małgorzata, Sasiadek Maria Małgorzata, Płoski Rafał

Abstract excerpt

Mapping of de novo balanced chromosomal translocations (BCTs) in patients with sporadic poorly characterized disease(s) is an unbiased method of finding candidate gene(s) responsible for the observed symptoms. We present a paediatric patient suffering from epilepsy, developmental delay (DD) and atrial septal defect IIº (ASD) requiring surgery. Karyotyping indicated an apparently balanced de novo reciprocal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Breakpoints

Share to Developmental Disabilities

Share to GABA Plasma Membrane Transport Proteins

Share to Infant

Share to Phenotype

Share to Translocation, Genetic

Source

Identifiers

PMID: 29621621
DOI: 10.1016/j.ejmg.2018.03.013

Genes

NAA15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.PMID 29621621Read ↗

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.Semantic proximity Read ↗

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).Semantic proximity Read ↗

A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation.Semantic proximity Read ↗

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.Semantic proximity Read ↗

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.Semantic proximity Read ↗

Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.Semantic proximity Read ↗

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.Semantic proximity Read ↗

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death.Semantic proximity Read ↗

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotypeSemantic proximity Read ↗

Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.Semantic proximity Read ↗

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.Semantic proximity Read ↗

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.