Evidence map›Paper›PMID 37287641›Full record

ArticleMolecular vision2023

Identification of a novel partial deletion of

Dominic Williams, Onyinye Onyia, Doug D Chung, Artak Kirakosyan, Anna Hovakimyan, Carter Payne, Majid Moshirfar, Anthony J Aldave

Open access · greenAbstract read
In one paragraph

Article in Molecular vision, 2023. 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
0.2field-weighted citation impact, top 43% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Review
  2. Genes · 2023
    Review
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

8 authors at 2 institutions in 1 country.

Dominic WilliamsStein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA.
Onyinye OnyiaStein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA.
Doug D ChungStein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA.
Artak KirakosyanDepartment of Ophthalmology, Malayan Ophthalmologic Center, Yerevan, Armenia.
Anna HovakimyanDepartment of Ophthalmology, Malayan Ophthalmologic Center, Yerevan, Armenia.
Carter PayneCase Western Reserve University School of Medicine.
Majid MoshirfarHoopes Vision Research Center, Draper, UT.
Anthony J AldaveStein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA.
Hoopes Vision · USUniversity of Utah · US

Funding

Vision Research Core at UCLAP30EY000331 · NEI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Gregory Darin Field, DAVID S WILLIAMS · 1985 to 2026
$16.8M
NEI NIH HHS P30 EY000331
6 · The paper itself

Abstract

Purpose: Pre-Descemet corneal dystrophy (PDCD) with X-linked ichthyosis (XLI) is associated with mutations in or deletions of the steroid sulfatase gene ( Materials and Methods: The affected individuals underwent cutaneous and slit-lamp examinations. Saliva samples collected from each affected individual served as a source of DNA for the amplification of the 10 coding exons of Results: The slit-lamp examination of three affected men (two of whom were brothers) from two families revealed bilateral punctate posterior corneal stromal opacities anterior to the Descemet membrane. Cutaneous examination demonstrated dry, coarse, scaly ichthyotic changes characteristic of XLI in all individuals. Genetic examination of the Conclusions: PDCD with XLI may be associated with either partial or complete deletion of

Indexed as

Corneal Dystrophies, HereditaryIchthyosisIchthyosis, X-LinkedGene DeletionGenetic MarkersHumansMaleSteryl-SulfataseGenetic MarkersSteryl-Sulfatase

Identifiers

PMID37287641
PMCPMC10243677
OpenAlexW4379768898

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.