Evidence map›Paper›PMID 28924545›Full record

ArticleBalkan journal of medical genetics : BJMG2017

X-autosome and X-Y Translocations in Female Carriers: X-chromosome Inactivation Easily Detectable by 5-ethynyl-2-deoxyuridine (EdU).

M Donat, A Louis, K Kreskowski, M Ziegler, A Weise, I Schreyer, T Liehr

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

Article in Balkan journal of medical genetics : BJMG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 33% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

7 authors at 1 institution in 1 country.

M DonatUniverstätsklinikum Jena, Institut für Humangenetik, Jena, Germany.
A LouisLabor für Humangenetische Diagnostik, Heidelberg, Germany.
K KreskowskiUniverstätsklinikum Jena, Institut für Humangenetik, Jena, Germany.
M ZieglerUniverstätsklinikum Jena, Institut für Humangenetik, Jena, Germany.
A WeiseUniverstätsklinikum Jena, Institut für Humangenetik, Jena, Germany.
I SchreyerUniverstätsklinikum Jena, Institut für Humangenetik, Jena, Germany.
T LiehrUniverstätsklinikum Jena, Institut für Humangenetik, Jena, Germany.
Jena University Hospital · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosome inactivation was determined on single cell level using 5-ethynyl-2-deoxyuridine (EdU). Thus, we confirmed that the recently suggested EdU approach can be simply adapted for routine diagnostic use. The latter is important, as only by knowing the real pattern of the skewed X-chromosome inactivation, correct interpretation of obtained results and subsequent reliable genetic counseling, can be done.

Indexed as

5-ethynyl-2-deoxyuridine (EdU)Genetic counselingMolecular cytogeneticsskewed X-chromosome inactivationX-Autosome translocationX-Y-Chromosome translocation

Identifiers

PMID28924545
PMCPMC5596826
OpenAlexW2754999533

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.