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

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Human molecular genetics - 1 Aug 1995

Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A

Abstract excerpt

The Pearson marrow-pancreas syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson syndrome and describe mitochondrial DNA...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child, Preschool
Share to DNA, Mitochondrial

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

Share to Infant

Share to Microsatellite Repeats

Share to Molecular Sequence Data

Share to Phenotype

Share to Sequence Deletion

Source

Identifiers

PMID: 7581370
DOI: 10.1093/hmg/4.8.1327

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

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.PMID 7581370Read ↗

Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome.Semantic proximity Read ↗

A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression.Semantic proximity Read ↗

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.Semantic proximity Read ↗

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.Semantic proximity Read ↗

Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.Semantic proximity Read ↗

Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.Semantic proximity Read ↗

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.Semantic proximity Read ↗

[Pearson syndrome. Case report].Semantic proximity Read ↗

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNASemantic proximity Read ↗

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.Semantic proximity Read ↗

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.Semantic proximity Read ↗

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.Semantic proximity Read ↗

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