Hanauer A - Search Results

1

Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation.

Dubos A, Pannetier S, Hanauer A. Dubos A, et al. Among authors: hanauer a. Am J Med Genet A. 2008 May 15;146A(10):1267-79. doi: 10.1002/ajmg.a.32274. Am J Med Genet A. 2008. PMID: 18412109

2

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Zeniou M, Pannetier S, Fryns JP, Hanauer A. Zeniou M, et al. Among authors: hanauer a. Am J Hum Genet. 2002 Jun;70(6):1421-33. doi: 10.1086/340607. Epub 2002 Apr 25. Am J Hum Genet. 2002. PMID: 11992250 Free PMC article.

3

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Hagens O, et al. Among authors: hanauer a. Hum Genet. 2006 Jan;118(5):578-90. doi: 10.1007/s00439-005-0072-2. Epub 2005 Oct 26. Hum Genet. 2006. PMID: 16249884

4

Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome.

Mehmood T, Schneider A, Sibille J, Marques Pereira P, Pannetier S, Ammar MR, Dembele D, Thibault-Carpentier C, Rouach N, Hanauer A. Mehmood T, et al. Among authors: hanauer a. Hum Genet. 2011 Mar;129(3):255-69. doi: 10.1007/s00439-010-0918-0. Epub 2010 Nov 30. Hum Genet. 2011. PMID: 21116650

5

Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome.

Schneider A, Mehmood T, Pannetier S, Hanauer A. Schneider A, et al. Among authors: hanauer a. J Neurochem. 2011 Nov;119(3):447-59. doi: 10.1111/j.1471-4159.2011.07423.x. Epub 2011 Sep 28. J Neurochem. 2011. PMID: 21838783 Free article.

6

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.

Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel JL, Sassone-Corsi P, Hanauer A. Trivier E, et al. Among authors: hanauer a. Nature. 1996 Dec 12;384(6609):567-70. doi: 10.1038/384567a0. Nature. 1996. PMID: 8955270

7

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

Merienne K, Jacquot S, Trivier E, Pannetier S, Rossi A, Scott C, Schinzel A, Castellan C, Kress W, Hanauer A. Merienne K, et al. Among authors: hanauer a. J Med Genet. 1998 Nov;35(11):890-4. doi: 10.1136/jmg.35.11.890. J Med Genet. 1998. PMID: 9832033 Free PMC article.

8

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel JL, Sassone-Corsi P, Hanauer A. Jacquot S, et al. Among authors: hanauer a. Am J Hum Genet. 1998 Dec;63(6):1631-40. doi: 10.1086/302153. Am J Hum Genet. 1998. PMID: 9837815 Free PMC article.

9

Coffin-Lowry syndrome.

Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A. Pereira PM, et al. Among authors: hanauer a. Eur J Hum Genet. 2010 Jun;18(6):627-33. doi: 10.1038/ejhg.2009.189. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888300 Free PMC article. Review.

10

Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome.

Marques Pereira P, Gruss M, Braun K, Foos N, Pannetier S, Hanauer A. Marques Pereira P, et al. Among authors: hanauer a. J Neurochem. 2008 Dec;107(5):1325-34. doi: 10.1111/j.1471-4159.2008.05703.x. Epub 2008 Sep 24. J Neurochem. 2008. PMID: 18823370 Free article.

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