| 1 | SMCR, SMS
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| Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
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| Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR.
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| Hum Mol Genet 13(21):2613-24. Epub 2004 Sep 30. 2004
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| 2 | 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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| 3 | SMS, KER, CCDC144A, TL132, SMCR
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| Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
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| Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR.
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| Am J Hum Genet 73(6):1302-15. Epub 2003 Nov 24. 2003
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| 4 | SMCR, SMS
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| Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
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| Potocki L, Shaw CJ, Stankiewicz P, Lupski JR.
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| Genet Med 5(6):430-4. 2003
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| 5 | 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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| 6 | TOP3A, SMCR
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| Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region : analysis of cell-cycle distribution and radiation sensitivity.
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| Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI.
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| Am J Med Genet 75(1):104-8. 1998
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| 7 | SMCR
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| Definition of the critical interval for Smith-Magenis syndrome.
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| Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI.
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| Cytogenet Cell Genet 79 : 276-281.9605871 1997
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| 8 | SMCR
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| SurditŽ et anomalies du canal lacrymal dans une famille avec une translocation t(17;22).
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| Ballesta F, et al.
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| J Genet Hum 24 : 221-225. 1976
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