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Mendeley readers
| Title |
Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases
|
|---|---|
| Published in |
Molecular Cytogenetics, September 2013
|
| DOI | 10.1186/1755-8166-6-35 |
| Pubmed ID | |
| Authors |
Emese Horváth, Zsuzsanna Horváth, Dóra Isaszegi, Gyurgyinka Gergev, Nikoletta Nagy, János Szabó, László Sztriha, Márta Széll, Emőke Endreffy |
| Abstract |
Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and speech impairment. The clinical symptoms suggested angelman syndrome. The aim of our study was to elucidate the genetic background of this case. |
Mendeley readers
The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 3% |
| Netherlands | 1 | 3% |
| Unknown | 30 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 7 | 22% |
| Student > Bachelor | 5 | 16% |
| Other | 3 | 9% |
| Researcher | 3 | 9% |
| Student > Doctoral Student | 2 | 6% |
| Other | 3 | 9% |
| Unknown | 9 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 7 | 22% |
| Medicine and Dentistry | 6 | 19% |
| Biochemistry, Genetics and Molecular Biology | 5 | 16% |
| Business, Management and Accounting | 2 | 6% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 6% |
| Other | 1 | 3% |
| Unknown | 9 | 28% |