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Les mutations suivies par (1) ont été découvertes dans le laboratoire du |
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Les mutations suivies par (2) ont été découvertes dans le laboratoire |
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| 1-2 | Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE. Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). Eur. J. Hum. Genet. (1999) 7: 20-26. |
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| Biancalana V., Briard ML., David A., Gilgenkrantz S., Kaplan J., Mathieu M., Piussan Ch., Poncin J., Shinzel A., Oudet C., Hanauer A Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. Am. J. Hum Gen. (1992) 50:981-987. |
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| Biancalana V, Trivier E, Weber C, Weissenbach J, Rowe PSN, O'Riordan JLH, Partington MW, Heyberger S, Oudet C, Hanauer A. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. Genomics (1994) 22:617-625. |
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| Bird H, Collins AL, Oley C, Lindsay S. Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. Am J Med Genet (1995) 59:512-516 |
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| SEQ | Bjorbaek C, Vik TA, Echwald SM, Yang PY, Vestergaard H, Wang JP, Webb GC, Richmond K, Hansen T, Erikson RL, Gabor Miklos GL, Cohen PTW, Pederson O. Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients. Diabetes (1995) 44; 90-97. |
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| Blair HJ, Gormally E, Uwechue IC, Boyd Y. Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. Hum Mol Genet (1998) 7:549-555. |
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| De Cesare D, Jacquot S, Hanauer A, Sassone-Corsi P. Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene. Proc Natl Acad Sci U S A (1998) 95:12202-12207. |
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Mutations in the X-linked RSK2 gene (RPS6KA3) in patients
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| Hanauer A, Alembik Y, Gilgenkrantz S, Mujica P, Nivelon-Chevallier A, Pembrey ME, Young ID, Mandel JL. Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. Am J Med Genet (1988) 30:523-530. |
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| Hanauer A, Trivier E, De Cesare D, Jacquot S, Pannetier S, Sassone-Corsi P, Mandel JL. Le syndrome de Coffin-Lowry: une anomalie de la transduction du signal (voie Ras/MAP kinase). Médecine/Sciences (1997) 13:107-108. | ||
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| Jacquot S, Merienne K, Trivier E, Hanauer A. The Coffin-Lowry syndrome: Current status. Am. J. Med. Genet. (1999) in press. | ||
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| Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel JL, Sassone-Corsi P, Hanauer A. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: Extensive allelic heterogeneity and a high rate of de novo mutations. Am. J. Hum. Genet (1998) 63:1631-1640. |
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| Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A. A missense mutation in RPS6KA3 responsible for non-specific mental retardation. Nature Genet. (1999) in press. | ||
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