Evidence map›Paper›PMID 19844787›Full record

ReviewJournal of assisted reproduction and genetics

Genomic imprinting disorders in humans: a mini-review.

Merlin G Butler

Open access · bronzeAbstract readReview
In one paragraph

Review in Journal of assisted reproduction and genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
89citing papers in PubMed, 1 pooled it
8.8field-weighted citation impact, top 2% 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

89 citing papers in PubMed, 1 synthesis or guideline pooled it, 209 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Cryopreservation, cryoprotectants, and potential risk of epigenetic alteration.Journal of assisted reproduction and genetics · 2024
    Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Review
  14. Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023
    Article
  15. Article
  16. Prader-Willi and Angelman Syndromes: Mechanisms and Management.The application of clinical genetics · 2023
    Review
  17. Deletion ofInternational journal of molecular sciences · 2022
    Article
  18. Review
  19. Parental obesity-induced changes in developmental programming.Frontiers in cell and developmental biology · 2022
    Review
  20. Article

29 more citing papers are in PubMed but not listed here.

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

1 author at 1 institution in 1 country.

Merlin G ButlerDepartments of Psychiatry & Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, KS 66160, USA. mbutler4@kumc.edu
University of Kansas Medical Center · US

Funding

RARE DISEASE CRC FOR NEW THERAPIES AND NEW DIAGNOSTICSU54RR019478 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L. · 2003 to 2008
$7.3M
NCRR NIH HHS 1U54RR019478NCRR NIH HHS U54 RR019478
6 · The paper itself

Abstract

Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. Imprinted genes show expression from only one member of the gene pair (allele) and their expression are determined by the parent during production of the gametes. Imprinted genes represent only a small subset of mammalian genes that are present but not imprinted in other vertebrates. Genomic imprints are erased in both germlines and reset accordingly; thus, reversible depending on the parent of origin and leads to differential expression in the course of development. Genomic imprinting has been studied in humans since the early 1980's and accounts for several human disorders. The first report in humans occurred in Prader-Willi syndrome due to a paternal deletion of chromosome 15 or uniparental disomy 15 (both chromosome 15s from only one parent) and similar genetic disturbances were reported later in Angelman syndrome.

Indexed as

Genomic ImprintingAngelman SyndromeAnimalsBeckwith-Wiedemann SyndromeCattleFemaleFibrous Dysplasia, PolyostoticHumansMalePrader-Willi SyndromeSilver-Russell SyndromeUniparental Disomy

Identifiers

PMID19844787
PMCPMC2788689
OpenAlexW1970095805

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.