"Smith-Magenis Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.
| Descriptor ID |
D058496
|
| MeSH Number(s) |
C10.281.900 C16.131.077.879 C16.131.260.887 C16.320.180.887
|
| Concept/Terms |
Smith-Magenis Syndrome- Smith-Magenis Syndrome
- Smith Magenis Syndrome
- Syndrome, Smith-Magenis
- Chromosome 17p11.2 Deletion Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Smith-Magenis Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Smith-Magenis Syndrome".
This graph shows the total number of publications written about "Smith-Magenis Syndrome" by people in this website by year, and whether "Smith-Magenis Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 1 | 0 | 1 |
| 2018 | 2 | 1 | 3 |
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Below are the most recent publications written about "Smith-Magenis Syndrome" by people in Profiles.
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Comprehensive Safety Analysis of Venetoclax Monotherapy for Patients with Relapsed/Refractory Chronic Lymphocytic Leukemia. Clin Cancer Res. 2018 09 15; 24(18):4371-4379.
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Venetoclax for Patients With Chronic Lymphocytic Leukemia With 17p Deletion: Results From the Full Population of a Phase II Pivotal Trial. J Clin Oncol. 2018 07 01; 36(19):1973-1980.
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Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients. Invest Ophthalmol Vis Sci. 2018 01 01; 59(1):362-369.
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Chronic lymphocytic leukemia: 2017 update on diagnosis, risk stratification, and treatment. Am J Hematol. 2017 Sep; 92(9):946-965.