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

Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred.

Blood cells, molecules & diseases - 15 Dec 2011

Houston B L, Zelinski T, Israels S J, Coghlan G, Chodirker B N, Gallagher P G, Houston D S, Zarychanski R

Abstract excerpt

The hereditary stomatocytoses are a group of heterogeneous conditions associated with chronic red cell hemolysis for which the causative genetic mutations are not known. We investigated 137 members of a large Canadian kindred with phenotypic findings consistent with hereditary xerocytosis, one of the most common stomatocytosis syndromes. The objectives of this study were to characterize the clinical hallmarks of...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Hemolytic, Congenital
Share to Canada

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

Share to Chromosome Mapping

Share to Chromosomes, Human, Pair 16

Share to Genetic Linkage

Share to Genetic Loci

Share to Haplotypes

Share to Hydrops Fetalis

Source

Identifiers

PMID: 21944700
DOI: 10.1016/j.bcmd.2011.08.001

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

Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred.PMID 21944700Read ↗

The evolving landscape of hereditary stomatocytosisSemantic proximity Read ↗

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.Semantic proximity Read ↗

Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.Semantic proximity Read ↗

Advances in understanding the pathogenesis of red cell membrane disordersSemantic proximity Read ↗

Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.Semantic proximity Read ↗

Recent advances in the pathophysiology of PIEZO1 ‐related hereditary xerocytosisSemantic proximity Read ↗

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literatureSemantic proximity Read ↗

Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis.Semantic proximity Read ↗

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.Semantic proximity Read ↗

Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis.Semantic proximity Read ↗

[Hereditary photodermatoses].Semantic proximity Read ↗

Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.Semantic proximity Read ↗

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