Evidence map›Paper›PMID 8244336›Full record

ArticleHuman genetics1993

Human malformations similar to those in the mouse mutation disorganization (Ds).

N H Robin, O O Adewale, D McDonald-McGinn, J H Nadeau, E H Zackai, M Bućan

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. The Orthopaedic Management of Human Disorganization Syndrome.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2020
    Article
  2. Triophthalmia and facial clefting: a case report.Journal of medical genetics · 1998
    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

6 authors.

N H RobinChildren's Hospital of Philadelphia, PA 19104.
O O Adewale
D McDonald-McGinn
J H Nadeau
E H Zackai
M Bućan

Funding

PHYSICAL MAP OF THE PH, W, AND RW REGIONR01HD028410 · NICHD · UNIVERSITY OF PENNSYLVANIA · PI BUCAN, MAJA · 1991 to 2006
$2.5M
GENETICS OF LINEAGE DETERMINATION DURING EMBRYOGENESISR01HD025389 · NICHD · MONTREAL GENERAL HOSPITAL · PI NADEAU, JOSEPH H. · 1989 to 1996
–
NICHD NIH HHS HD 25389NICHD NIH HHS HD 28410
6 · The paper itself

Abstract

We report two patients with malformations similar to those seen in mice with the disorganization (Ds) mutation. The first case has a body wall defect, limb malformation, and hamartoma, while the second case has a partially duplicated foot, in addition to the other anomalies. We discuss the implications that recent advances regarding the genetic analysis of the mouse Ds locus have for the search for the human homologue.

Indexed as

Abnormalities, MultipleAnimalsChromosome AberrationsChromosome DisordersHamartomaHumansInfant, NewbornMaleMiceMice, Mutant StrainsMutation

Identifiers

PMID8244336

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.