Evidence map›Paper›PMID 9032645›Full record

ArticleJournal of medical genetics1997

46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis.

C P Venditti, N K Seese, G S Gerhard, A E Ten Elshof, K A Chorney, P N Mowrey, P G Lacey, J H Knoll, M J Chorney

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 34% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

C P VendittiDepartment of Microbiology and Immunology, Pennsylvania State University College of Medicine, Milton S Hershey Medical Center, Hershey 17033, USA.
N K Seese
G S Gerhard
A E Ten Elshof
K A Chorney
P N Mowrey
P G Lacey
J H Knoll
M J Chorney
Pennsylvania State University · USHarrisburg University of Science and Technology · USHarvard University Press · USLeco Corporation (United States) · US

Funding

IDIOPATHIC HEMOCHROMATOSIS DISEASE GENER01DK043734 · NIDDK · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI CHORNEY, MICHAEL J · 1994 to 1997
–
NICHD NIH HHS HD 18568NIDDK NIH HHS 1 R01 DK43734-01A2
6 · The paper itself

Abstract

Hereditary haemochromatosis (HFE) is a recessive genetic disease of iron overload which has been shown by linkage analysis to reside on the short arm of chromosome 6, close to the major histocompatibility complex (MHC). Positional cloning of the putative HFE locus has been hampered, in part, by the lack of a structural alteration on 6p. In this report, we describe a pedigree with HFE which carries a balanced paracentric inversion of chromosome 6, inv(6)(p21.1p23), a rarely reported chromosomal rearrangement in this region. We have determined the inheritance of the chromosome harbouring the inversion, which segregates as an HFE chromosome. Because the HFE locus has been mapped distal to the HLA-F class I locus at 6p21.3, the breakpoints associated with this chromosomal rearrangement may provide a significant genomic landmark for positional cloning of the HFE gene.

Indexed as

Chromosome InversionAdultChromosome MappingChromosomes, Human, Pair 6FemaleGenetic MarkersHemochromatosisHLA AntigensHumansMicrosatellite RepeatsPedigreePolymerase Chain ReactionGenetic MarkersHLA Antigens

Identifiers

PMID9032645
PMCPMC1050842
OpenAlexW2109123215

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.