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Mendeley readers
| Title |
"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
|
|---|---|
| Published in |
Molecular Cytogenetics, January 2012
|
| DOI | 10.1186/1755-8166-5-9 |
| Pubmed ID | |
| Authors |
Maryam Rafati, Elaheh Seyyedaboutorabi, Mohammad R Ghadirzadeh, Yaser Heshmati, Homeira Adibi, Zarrintaj Keihanidoust, Mohammad R Eshraghian, Gholam Reza Javadi, Jila Dastan, Alireza Mosavi-Jarrahi, Azadeh Hoseini, Marzieh Purhoseini, Saeed R Ghaffari |
| Abstract |
Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been investigated. As the balanced chromosomal abnormalities commonly lead to the recurrent ID or multiple congenital anomalies, this study was designed to evaluate whether it was justified to investigate such aberrations in familial ID patients. Three hundred and twenty eight patients from 101 unrelated Iranian families with more than two ID patients in the first-degree relatives, have been investigated. Assessment of a panel of 21 common Microdeletion and Microduplication syndromes (CMMS) was carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique. |
Mendeley readers
The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 3% |
| Brazil | 1 | 3% |
| Unknown | 28 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 17% |
| Student > Doctoral Student | 5 | 17% |
| Student > Master | 5 | 17% |
| Student > Ph. D. Student | 4 | 13% |
| Student > Bachelor | 3 | 10% |
| Other | 6 | 20% |
| Unknown | 2 | 7% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 7 | 23% |
| Biochemistry, Genetics and Molecular Biology | 6 | 20% |
| Medicine and Dentistry | 6 | 20% |
| Engineering | 3 | 10% |
| Computer Science | 2 | 7% |
| Other | 3 | 10% |
| Unknown | 3 | 10% |