Citations for
1SMCR, SMS
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.
Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR.
Hum Mol Genet 13(21):2613-24. Epub 2004 Sep 30. 2004
2RAI1, SMS, SMCR
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR.
Hum Genet 115(6):515-24. Epub 2004 Sep 30. 2004
3SMS, KER, CCDC144A, TL132, SMCR
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR.
Am J Hum Genet 73(6):1302-15. Epub 2003 Nov 24. 2003
4SMCR, SMS
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
Potocki L, Shaw CJ, Stankiewicz P, Lupski JR.
Genet Med 5(6):430-4. 2003
5ALKBH5, ATPAF2, C17orf39, COPS3, LLGL1, MED9, MIEF2, RAI1, RASD1, SMCR, SMCR2, SMCR3, SMCR4, SMCR5, SMCR6, SMCR8, SMCR9, SMS, SMS-REPD, SMS-REPM, SMS-REPP, TOM1L2
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR.
Genome Res 12(5):713-28. 2002
6TOP3A, SMCR
Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region : analysis of cell-cycle distribution and radiation sensitivity.
Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI.
Am J Med Genet 75(1):104-8. 1998
7SMCR
Definition of the critical interval for Smith-Magenis syndrome.
Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI.
Cytogenet Cell Genet 79 : 276-281.9605871 1997
8SMCR
Surdité et anomalies du canal lacrymal dans une famille avec une translocation t(17;22).
Ballesta F, et al.
J Genet Hum 24 : 221-225. 1976