Evidence map›Paper›PMID 34168676›Full record

ArticleFrontiers in genetics2021

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical

Gergely Büki, Anna Zsigmond, Márta Czakó, Renáta Szalai, Gréta Antal, Viktor Farkas, György Fekete, Dóra Nagy, Márta Széll, Marianna Tihanyi and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.6field-weighted citation impact, top 14% 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

9 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
  2. Article
  3. Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2024
    Article
  4. Identification of anInternational journal of molecular sciences · 2023
    Article
  5. Article
  6. Review
  7. A novel mutation of theAmerican journal of translational research · 2022
    Article
  8. Review
  9. AtypicalGenes · 2021
    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

13 authors at 3 institutions in 1 country.

Gergely BükiDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Anna ZsigmondDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Márta CzakóDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Renáta SzalaiDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Gréta AntalDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Viktor Farkas1st Department of Pediatrics, Semmelweis University, Budapest, Hungary.
György Fekete2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
Dóra NagyDepartment of Medical Genetics, Faculty of Medicine, University of Szeged, Szeged, Hungary.
Márta SzéllDepartment of Medical Genetics, Faculty of Medicine, University of Szeged, Szeged, Hungary.
Marianna TihanyiGenetic Laboratory, Szent Rafael Hospital of Zala County, Zalaegerszeg, Hungary.
Béla MeleghDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Kinga HadzsievDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
Judit BeneDepartment of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.
University of Pecs · HUSemmelweis University · HUUniversity of Szeged · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in

Indexed as

17q11.2 deletion syndromearray-CGHatypical NF1 microdeletioncopy number variationmultiplex ligation-probe dependent amplificationNF1 genetype-1 NF1 microdeletiontype-2 NF1 microdeletion

Identifiers

PMID34168676
PMCPMC8217751
OpenAlexW3172914492

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.