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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 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Oct 22 [updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301487 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and …
CLINICAL CHARACTERISTICS: Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly …
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Rinaldi B, Villa R, Sironi A, Garavelli L, Finelli P, Bedeschi MF. Rinaldi B, et al. Genes (Basel). 2022 Feb 11;13(2):335. doi: 10.3390/genes13020335. Genes (Basel). 2022. PMID: 35205380 Free PMC article. Review.
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. ...
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive physical features, developmenta …
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.
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 …
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 …
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 …
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 …
Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Linders CC, van Eeghen AM, Zinkstok JR, van den Boogaard MJ, Boot E. Linders CC, et al. Genes (Basel). 2023 Jul 25;14(8):1514. doi: 10.3390/genes14081514. Genes (Basel). 2023. PMID: 37628566 Free PMC article. Review.
AIM: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. ...
AIM: Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathoge …
Smith-magenis syndrome: A rare case report.
Sinha R, Jha H, Deb D, Datta M. Sinha R, et al. J Family Med Prim Care. 2022 Mar;11(3):1191-1194. doi: 10.4103/jfmpc.jfmpc_1279_21. Epub 2022 Mar 10. J Family Med Prim Care. 2022. PMID: 35495804 Free PMC article.
Smith-Magenis syndrome is a rare genetic disorder involving multiple body systems, along with mental retardation and sleep disturbances. ...This article presents a case report of a 7-year-old patient having this rare syndrome along with his genetic ana …
Smith-Magenis syndrome is a rare genetic disorder involving multiple body systems, along with mental retardation and sl …
574 results