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Smith-Magenis syndrome.
De Leersnyder H. De Leersnyder H. Handb Clin Neurol. 2013;111:295-6. doi: 10.1016/B978-0-444-52891-9.00034-8. Handb Clin Neurol. 2013. PMID: 23622179 Review.
Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies ascribed to an interstitial deletion of chromosome 17p11.2. ...
Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmo
Smith-Magenis Syndrome.
Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B. Smith ACM, et al. 2001 Oct 22 [updated 2019 Sep 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2001 Oct 22 [updated 2019 Sep 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301487 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childho …
CLINICAL CHARACTERISTICS: Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly …
Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder.
Poisson A, Nicolas A, Bousquet I, Raverot V, Gronfier C, Demily C. Poisson A, et al. Int J Mol Sci. 2019 Jul 19;20(14):3533. doi: 10.3390/ijms20143533. Int J Mol Sci. 2019. PMID: 31330985 Free PMC article. Review.
Smith-Magenis syndrome (SMS), linked to Retinoic Acid Induced (RAI1) haploinsufficiency, is a unique model of the inversion of circadian melatonin secretion. ...
Smith-Magenis syndrome (SMS), linked to Retinoic Acid Induced (RAI1) haploinsufficiency, is a unique model of the inver
Behavior and sleep disturbance in Smith-Magenis syndrome.
Shayota BJ, Elsea SH. Shayota BJ, et al. Curr Opin Psychiatry. 2019 Mar;32(2):73-78. doi: 10.1097/YCO.0000000000000474. Curr Opin Psychiatry. 2019. PMID: 30557269 Free PMC article. Review.
PURPOSE OF REVIEW: To provide an update of the most recent studies on Smith-Magenis syndrome (SMS) with a focus on the unique pattern of behavioral and sleep disturbances associated with the condition. ...
PURPOSE OF REVIEW: To provide an update of the most recent studies on Smith-Magenis syndrome (SMS) with a focus on the …
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
Falco M, Amabile S, Acquaviva F. Falco M, et al. Appl Clin Genet. 2017 Nov 3;10:85-94. doi: 10.2147/TACG.S128455. eCollection 2017. Appl Clin Genet. 2017. PMID: 29138588 Free PMC article. Review.
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. ...They usually have lower incidence of hypotonia and less
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features
Smith-Magenis syndrome.
Elsea SH, Girirajan S. Elsea SH, et al. Eur J Hum Genet. 2008 Apr;16(4):412-21. doi: 10.1038/sj.ejhg.5202009. Epub 2008 Jan 30. Eur J Hum Genet. 2008. PMID: 18231123 Review.
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. ...
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-in
Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.
Kaplan KA, Elsea SH, Potocki L. Kaplan KA, et al. CNS Drugs. 2020 Jul;34(7):723-730. doi: 10.1007/s40263-020-00733-5. CNS Drugs. 2020. PMID: 32495322 Review.
Smith-Magenis syndrome affects patients through numerous congenital anomalies, intellectual disabilities, behavioral challenges, and sleep disturbances. ...The sleep problems associated with Smith-Magenis syndrome are attributed to haploi
Smith-Magenis syndrome affects patients through numerous congenital anomalies, intellectual disabilities, behavioral ch
Case of Smith-Magenis Syndrome.
Khan SS, Pradhan T. Khan SS, et al. J Clin Psychopharmacol. 2019 Sep/Oct;39(5):525-527. doi: 10.1097/JCP.0000000000001099. J Clin Psychopharmacol. 2019. PMID: 31433341 No abstract available.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity). ...CONCLUSIONS: TCF20 …
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis
Smith-Magenis Syndrome: Clues in the Clinic.
Akkus N, Kilic B, Cubuk PO. Akkus N, et al. J Pediatr Genet. 2020 Dec;9(4):279-284. doi: 10.1055/s-0039-1700965. Epub 2020 Jan 6. J Pediatr Genet. 2020. PMID: 32765933
As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. ...
As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused fro …
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