| 1 | RAI1, SMS
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| Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
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| Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, Dupont BR, Walz K, Moretti-Ferreira D, Srivastava AK.
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| Eur J Hum Genet 20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7.
2012
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| 2 | CLOCK, RAI1, SMS
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| Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity.
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| Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH.
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| Am J Hum Genet 90(6):941-9. Epub 2012 May 10. 2012
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| 3 | RAI1, SMS
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| Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.
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| Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.
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| PLoS One 6(8):e22861. Epub 2011 Aug 8.
2011
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| 4 | RAI1, SMS
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| Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
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| Elsea SH, Williams SR.
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| Expert Rev Mol Med 13:e14. Review.
2011
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| 5 | DUP17P11, RAI1
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| Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
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| Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR.
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| Am J Hum Genet 86(3):462-70. Epub 2010 Feb 25.PMID: 20188345 2010
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| 6 | BDNF, RAI1, SMS
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| Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
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| Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH.
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| Hum Mol Genet 19(20):4026-42. Epub 2010 Jul 27.PMID: 20663924 2010
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| 7 | RAI1, SMS
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| A functional network module for Smith-Magenis syndrome.
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| Girirajan S, Truong H, Blanchard C, Elsea S.
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| Clin Genet lin Genet. 2009 Feb 17. [Epub ahead of print]
2009
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| 8 | RAI1, SMS
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| Array comparative genomic hybridization of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage-sensitive loci also associated with schizophrenia, autism, and developmental delay.
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| Williams SR, Girirajan S, Tegay D, Nowak NJ, Hatchwell E, Elsea SH.
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| J Med Genet Med Genet. 2009 Sep 14. [Epub ahead of print]
2009
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| 9 | DUP17P11, RAI1, SMS
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| How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
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| Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH.
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| Eur J Hum Genet 16(8):941-54. Epub 2008 Feb 20.
2008
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| 10 | DUP17P11, RAI1
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| Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype.
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| Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR.
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| Am J Hum Genet 80(4):633-49. Epub 2007 Feb 26. 2007
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| 11 | DUP17P11, RAI1, DRG2, RASD1
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| Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
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| Nakamine A, Ouchanov L, Jimenez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA.
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| Am J Med Genet A [Epub ahead of print] 2007
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| 12 | SMS, RAI1
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| Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
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| Edelman E, Girirajan S, Finucane B, Patel P, Lupski J, Smith A, Elsea S.
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| Clin Genet 71(6):540-550. 2007
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| 13 | RAI1, SMS
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| RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
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| Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.
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| Am J Med Genet A 140(22):2454-63. 2006
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| 14 | RAI1, SMS
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| Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.
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| Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR.
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| Hum Mol Genet 14(8):983-95. Epub 2005 Mar 3. 2005
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| 15 | SMS, RAI1
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| RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
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| Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH.
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| J Med Genet 42(11):820-8. Epub 2005 Mar 23. 2005
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| 16 | RAI1, SMS, SMCR
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| Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
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| Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR.
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| Hum Genet 115(6):515-24. Epub 2004 Sep 30. 2004
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| 17 | RAI1, SMS
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| Mutations in RAI1 associated with Smith-Magenis syndrome.
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| Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH.
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| Nat Genet 33(4):466-8. 2003
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| 18 | RAI1
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| Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.
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| Toulouse A, Rochefort D, Roussel J, Joober R, Rouleau GA.
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| Genomics 82(2):162-71. 2003
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| 19 | RAI1, SMS, SMS-REPD, SMS-REPM, SMS-REPP
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| Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
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| Vlangos CN, Yim DK, Elsea SH.
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| Mol Genet Metab 79(2):134-41. 2003
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| 20 | ALKBH5, ATPAF2, C17orf39, COPS3, LLGL1, MED9, MIEF2, RAI1, RASD1, SMCR, SMCR2, SMCR3, SMCR4, SMCR5, SMCR6, SMCR8, SMCR9, SMS, SMS-REPD, SMS-REPM, SMS-REPP, TOM1L2
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| Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
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| Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR.
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| Genome Res 12(5):713-28. 2002
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| 21 | RAI1
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| RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients.
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| Seranski P, Hoff C, Radelof U, Hennig S, Reinhardt R, Schwartz CE, Heiss NS, Poustka A.
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| Gene 270(1-2):69-76. 2001
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| 22 | KCNN3, RAI1
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| CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).
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| Hayes S, Turecki G, Brisebois K, Lopes-Cendes I, Gaspar C, Riess O, Ranum LP, Pulst SM, Rouleau GA.
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| Hum Mol Genet 9(12):1753-8. 2000
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| 23 | CDW52L, DRAP1, GRAP, IL6STP, MEIS3P1, RAI1, RANBP1, RPS3L1, SMS, TOM1L2
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| Transcription mapping in a medulloblastoma breakpoint interval and smith-magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes.
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| Seranski P, et al.
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| Genomics 56(1):1-11. 1999
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| 24 | RAI1
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| Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain.
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| Imai Y, et al.
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| Brain Res Mol Brain Res 31(1-2):1-9. 1995
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