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

Combined cyclic vomiting and Kearns-Sayre syndromes.

Pediatric neurology - 1 Feb 2007

Boles Richard G, Baldwin Erin E, Prezant Toni R

Abstract excerpt

The third case of cyclic vomiting syndrome with a large mitochondrial deoxyribonucleic acid rearrangement is described. Multiple neuromuscular anomalies are present that meet the diagnostic criteria for Kearns-Sayre syndrome, as well as severe symmetrical growth retardation. A 3-kilobase mitochondrial deoxyribonucleic acid deletion (nucleotides 10970-14118) was found at 30-40% heteroplasmy in the blood of the...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to DNA, Mitochondrial
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Kearns-Sayre Syndrome

Share to Phenotype

Share to Vomiting

Source

Identifiers

PMID: 17275670
DOI: 10.1016/j.pediatrneurol.2006.09.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Combined cyclic vomiting and Kearns-Sayre syndromes.PMID 17275670Read ↗

Children with cyclic vomiting syndrome: phenotypes, disease burden and mitochondrial DNA analysis.Semantic proximity Read ↗

Cyclic vomiting syndrome plus.Semantic proximity Read ↗

Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease.Semantic proximity Read ↗

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.Semantic proximity Read ↗

Clinical Insights in Cyclic Vomiting Syndrome Based on Genetic FindingsSemantic proximity Read ↗

Maternal inheritance in cyclic vomiting syndrome.Semantic proximity Read ↗

Are pediatric and adult-onset cyclic vomiting syndrome (CVS) biologically different conditions? Relationship of adult-onset CVS with the migraine and pediatric CVS-associated common mtDNA polymorphisms 16519T and 3010A.Semantic proximity Read ↗

Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome.Semantic proximity Read ↗

NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress-induced calcium channel (RYR2).Semantic proximity Read ↗

Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome.Semantic proximity Read ↗

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunctionSemantic proximity Read ↗

Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome.Semantic proximity Read ↗

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