Hanauer A - Search Results

1

Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning.

Zeniou M, Ding T, Trivier E, Hanauer A. Zeniou M, et al. Among authors: hanauer a. Hum Mol Genet. 2002 Nov 1;11(23):2929-40. doi: 10.1093/hmg/11.23.2929. Hum Mol Genet. 2002. PMID: 12393804

2

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).

Jacquot S, Zeniou M, Touraine R, Hanauer A. Jacquot S, et al. Among authors: hanauer a. Eur J Hum Genet. 2002 Jan;10(1):2-5. doi: 10.1038/sj.ejhg.5200738. Eur J Hum Genet. 2002. PMID: 11896450

3

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.

4

A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.

Touraine RL, Zeniou M, Hanauer A. Touraine RL, et al. Among authors: hanauer a. Eur J Pediatr. 2002 Apr;161(4):179-87. doi: 10.1007/s00431-001-0904-6. Eur J Pediatr. 2002. PMID: 12014383 Review.

5

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.

Zeniou M, Gattoni R, Hanauer A, Stévenin J. Zeniou M, et al. Among authors: hanauer a. Nucleic Acids Res. 2004 Feb 18;32(3):1214-23. doi: 10.1093/nar/gkh272. Print 2004. Nucleic Acids Res. 2004. PMID: 14973203 Free PMC article.

6

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.

7

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A. Delaunoy J, et al. Among authors: hanauer a. Hum Mutat. 2001 Feb;17(2):103-16. doi: 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N. Hum Mutat. 2001. PMID: 11180593

8

The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.

Marques Pereira P, Heron D, Hanauer A. Marques Pereira P, et al. Among authors: hanauer a. Hum Genet. 2007 Dec;122(5):541-3. doi: 10.1007/s00439-007-0424-1. Epub 2007 Aug 24. Hum Genet. 2007. PMID: 17717706

9

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

10

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

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