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2. Molecular cloning, localization, and developmental expression of mouse brain finger protein (Bfp)/ZNF179: distribution of bfp mRNA partially coincides with the affected areas of Smith-Magenis syndrome. Orimo A, Inoue S, Ikeda K, Sato M, Kato A, Tominaga N, Suzuki M, Noda T, Watanabe M, Muramatsu M. Genomics; 1998 Nov 15; 54(1):59-69. PubMed ID: 9806830 [Abstract] [Full Text] [Related]
7. 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]
10. The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. Koyama K, Fukushima Y, Inazawa J, Tomotsune D, Takahashi N, Nakamura Y. Cytogenet Cell Genet; 1996 May 17; 72(1):78-82. PubMed ID: 8565641 [Abstract] [Full Text] [Related]
11. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Nat Genet; 2000 Jan 17; 24(1):84-7. PubMed ID: 10615134 [Abstract] [Full Text] [Related]
12. 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 17; 72(1):47-58. PubMed ID: 17594399 [Abstract] [Full Text] [Related]
14. 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]
15. Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome. Elsea SH, Mykytyn K, Ferrell K, Coulter KL, Das P, Dubiel W, Patel PI, Metherall JE. Am J Med Genet; 1999 Dec 03; 87(4):342-8. PubMed ID: 10588842 [Abstract] [Full Text] [Related]
17. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). Probst FJ, Chen KS, Zhao Q, Wang A, Friedman TB, Lupski JR, Camper SA. Genomics; 1999 Feb 01; 55(3):348-52. PubMed ID: 10049592 [Abstract] [Full Text] [Related]
18. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A. J Pediatr; 2001 Jul 01; 139(1):111-6. PubMed ID: 11445803 [Abstract] [Full Text] [Related]
19. Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family. Matsuda Y, Inoue S, Seki N, Hosoi T, Orimo A, Muramatsu M, Hori T. Genomics; 1996 Apr 15; 33(2):325-7. PubMed ID: 8660987 [Abstract] [Full Text] [Related]
20. Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome. De Leersnyder H, Claustrat B, Munnich A, Verloes A. Mol Cell Endocrinol; 2006 Jun 27; 252(1-2):88-91. PubMed ID: 16723183 [Abstract] [Full Text] [Related] Page: [Next] [New Search]