Evidence map›Paper›PMID 22584706›Full record

ReviewClinics (Sao Paulo, Brazil)2012

Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation.

Cornelis J Lips, Koen M Dreijerink, Jo W Höppener

Open access · goldAbstract readReview
In one paragraph

Review in Clinics (Sao Paulo, Brazil), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
3.1field-weighted citation impact, top 9% 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

20 citing papers in PubMed, 41 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024
    Review
  5. Article
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  8. Review
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  11. Article
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  13. Review
  14. Review
  15. Review
  16. Review
  17. Article
  18. Multiple endocrine neoplasia syndromes associated with mutation of p27.Journal of endocrinological investigation · 2013
    Review
  19. Review
  20. 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

3 authors at 2 institutions in 1 country.

Cornelis J LipsDepartment of Internal Medicine & Endocrinology, University Medical Center Utrecht, Utrecht, The Netherlands. lips05@zonnet.nl
Koen M Dreijerink
Jo W Höppener
University Medical Center Utrecht · NLUtrecht University · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple endocrine neoplasia type 1 is an inherited endocrine tumor syndrome, predominantly characterized by tumors of the parathyroid glands, gastroenteropancreatic tumors, pituitary adenomas, adrenal adenomas, and neuroendocrine tumors of the thymus, lungs or stomach. Multiple endocrine neoplasia type 1 is caused by germline mutations of the multiple endocrine neoplasia type 1 tumor suppressor gene. The initial germline mutation, loss of the wild-type allele, and modifying genetic and possibly epigenetic and environmental events eventually result in multiple endocrine neoplasia type 1 tumors. Our understanding of the function of the multiple endocrine neoplasia type 1 gene product, menin, has increased significantly over the years. However, to date, no clear genotype-phenotype correlation has been established. In this review we discuss reports on exceptional clinical presentations of multiple endocrine neoplasia type 1, which may provide more insight into the pathogenesis of this disorder and offer clues for a possible genotype-phenotype correlation.

Indexed as

Genetic Association StudiesAdenomaGenetic Predisposition to DiseaseGerm-Line MutationHumansMultiple Endocrine Neoplasia Type 1Pituitary NeoplasmsProto-Oncogene ProteinsMEN1 protein, humanProto-Oncogene Proteins

Identifiers

PMID22584706
PMCPMC3328827
OpenAlexW1998814305

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.