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X Demographics
Mendeley readers
Attention Score in Context
| Title |
SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype
|
|---|---|
| Published in |
BMC Medical Genomics, November 2012
|
| DOI | 10.1186/1471-2350-13-108 |
| Pubmed ID | |
| Authors |
Remko Hersmus, Hans Stoop, Erin Turbitt, J Wolter Oosterhuis, Stenvert LS Drop, Andrew H Sinclair, Stefan J White, Leendert HJ Looijenga |
| Abstract |
The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. The Sex determining Region on the Y gene (SRY) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. The majority of the mutations described are located in the central HMG domain, which is involved in the binding and bending of the DNA and harbors two nuclear localization signals. SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 3% |
| Germany | 1 | 3% |
| Unknown | 37 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 12 | 31% |
| Student > Ph. D. Student | 4 | 10% |
| Student > Postgraduate | 4 | 10% |
| Student > Bachelor | 3 | 8% |
| Professor | 3 | 8% |
| Other | 8 | 21% |
| Unknown | 5 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 18 | 46% |
| Agricultural and Biological Sciences | 9 | 23% |
| Biochemistry, Genetics and Molecular Biology | 5 | 13% |
| Computer Science | 1 | 3% |
| Unknown | 6 | 15% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 June 2023.
All research outputs
#16,720,137
of 25,368,786 outputs
Outputs from BMC Medical Genomics
#1,194
of 2,444 outputs
Outputs of similar age
#113,589
of 179,068 outputs
Outputs of similar age from BMC Medical Genomics
#25
of 40 outputs
Altmetric has tracked 25,368,786 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 46th percentile – i.e., 46% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 179,068 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 34th percentile – i.e., 34% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.