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2. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S. Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399 [Abstract] [Full Text] [Related]
6. Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome. Juyal RC, Kuwano A, Kondo I, Zara F, Baldini A, Patel PI. Am J Med Genet; 1996 Dec 11; 66(2):193-6. PubMed ID: 8958329 [Abstract] [Full Text] [Related]
7. [Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype]. Blanco-Barca O, Gallego-Blanco M, Ruiz-Ponte C, Barros-Angueira F, Esquete-López C, Eirís-Puñal J, Castro-Gago M. Rev Neurol; 1996 Dec 11; 38(11):1038-42. PubMed ID: 15202082 [Abstract] [Full Text] [Related]
8. Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. 2). Niederhofer H. Psychiatr Danub; 2007 Sep 11; 19(3):189-92. PubMed ID: 17914318 [Abstract] [Full Text] [Related]
10. West syndrome associated with mosaic Down syndrome. Kajimoto M, Ichiyama T, Akashi A, Suenaga N, Matsufuji H, Furukawa S. Brain Dev; 2007 Aug 11; 29(7):447-9. PubMed ID: 17307326 [Abstract] [Full Text] [Related]
11. Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C. Am J Med Genet; 1996 May 17; 63(2):373-7. PubMed ID: 8725788 [Abstract] [Full Text] [Related]
12. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Gropman AL, Duncan WC, Smith AC. Pediatr Neurol; 2006 May 17; 34(5):337-50. PubMed ID: 16647992 [Abstract] [Full Text] [Related]
14. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL. Am J Med Genet; 1993 Sep 15; 47(4):504-11. PubMed ID: 8256814 [Abstract] [Full Text] [Related]
15. 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; 2004 Nov 01; 13(21):2613-24. PubMed ID: 15459175 [Abstract] [Full Text] [Related]
16. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. Am J Med Genet; 1996 Mar 29; 62(3):247-54. PubMed ID: 8882782 [Abstract] [Full Text] [Related]
17. Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2). Kondo I, Matsuura S, Kuwajima K, Tokashiki M, Izumikawa Y, Naritomi K, Niikawa N, Kajii T. Am J Med Genet; 1991 Nov 01; 41(2):225-9. PubMed ID: 1785639 [Abstract] [Full Text] [Related]
18. A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma. Hienonen T, Sammalkorpi H, Isohanni P, Versteeg R, Karikoski R, Aaltonen LA. J Med Genet; 2005 Jan 01; 42(1):e3. PubMed ID: 15635065 [No Abstract] [Full Text] [Related]
19. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. Epilepsia; 2006 May 01; 47(5):830-8. PubMed ID: 16686647 [Abstract] [Full Text] [Related]
20. Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). Smith AC, Dykens E, Greenberg F. Am J Med Genet; 1998 Mar 28; 81(2):186-91. PubMed ID: 9613860 [Abstract] [Full Text] [Related] Page: [Next] [New Search]