A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report.

Reza Ebrahimzadeh-Vesal, Seyed Kianush Hosseini, Fereshteh Rezakhanlu, Pupak Derakhshandeh-Peykar

Open access · greenAbstract readCase Reports

In one paragraph

Article in Reports of biochemistry & molecular biology, 2013. 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

–field-weighted citation impact, top 84% 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, 2 citations in OpenAlex.

Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.Reports of biochemistry & molecular biology · 2023
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

4 authors at 1 institution in 1 country.

Reza Ebrahimzadeh-VesalDepartment of Medical Genetics, Medical Sciences, University of Tehran, Iran.

Seyed Kianush HosseiniTehran Heart Center, Medical Sciences, University of Tehran, Iran.

Fereshteh RezakhanluTehran Heart Center, Medical Sciences, University of Tehran, Iran.

Pupak Derakhshandeh-PeykarDepartment of Medical Genetics, Medical Sciences, University of Tehran, Iran ; Medizinisch Genetisches Zentrum (MGZ), Munich, Germany.

University of Tehran · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.

Indexed as

Congenital heart malformationHolt-Oram syndromeTBX5 gene

Identifiers

PMID26989721

PMCPMC4757068

OpenAlexW2337485747

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.