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Results: 14

1.

An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.

Matsumoto A, Kuwajima M, Miyake K, Kojima K, Nakashima N, Jimbo EF, Kubota T, Momoi MY, Yamagata T.

J Hum Genet. 2013 Nov;58(11):755-7. doi: 10.1038/jhg.2013.88. Epub 2013 Aug 29.

PMID:
23985797
[PubMed - indexed for MEDLINE]
2.

The role of genetics in the establishment and maintenance of the epigenome.

Huidobro C, Fernandez AF, Fraga MF.

Cell Mol Life Sci. 2013 May;70(9):1543-73. doi: 10.1007/s00018-013-1296-2. Epub 2013 Mar 10. Review.

PMID:
23474979
[PubMed - indexed for MEDLINE]
3.

A review of the embryological development and associated developmental abnormalities of the sternum in the light of a rare palaeopathological case of sternal clefting.

van der Merwe AE, Weston DA, Oostra RJ, Maat GJ.

Homo. 2013 Apr;64(2):129-41. doi: 10.1016/j.jchb.2013.01.003. Epub 2013 Mar 7. Review.

PMID:
23473075
[PubMed - indexed for MEDLINE]
4.

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome.

Schneider A, Maas SM, Hennekam RC, Hanauer A.

Eur J Med Genet. 2013 Mar;56(3):150-2. doi: 10.1016/j.ejmg.2012.11.007. Epub 2012 Dec 20.

PMID:
23261961
[PubMed - indexed for MEDLINE]
5.

Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.

Niida Y, Kuroda M, Mitani Y, Okumura A, Yokoi A.

Mol Genet Metab. 2012 Nov;107(3):580-5. doi: 10.1016/j.ymgme.2012.09.008. Epub 2012 Sep 10.

PMID:
23022073
[PubMed - indexed for MEDLINE]
6.

Stimulus-induced drop episodes in Coffin-Lowry syndrome.

Hahn JS, Hanauer A.

Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Review.

PMID:
22490425
[PubMed - indexed for MEDLINE]
7.

Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.

Martinez HR, Niu MC, Sutton VR, Pignatelli R, Vatta M, Jefferies JL.

Am J Med Genet A. 2011 Dec;155A(12):3030-4. doi: 10.1002/ajmg.a.33856. Epub 2011 Oct 18.

PMID:
22009732
[PubMed - indexed for MEDLINE]
8.

Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report.

Norderyd J, Aronsson J.

Int J Paediatr Dent. 2012 Mar;22(2):154-6. doi: 10.1111/j.1365-263X.2011.01160.x. Epub 2011 Jul 22.

PMID:
21781198
[PubMed - indexed for MEDLINE]
9.

A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

Senel S, Ceylaner S, Ceylaner G, Sahin AH, Andrieux J, Delaunoy JP.

Genet Couns. 2011;22(1):21-4.

PMID:
21614984
[PubMed - indexed for MEDLINE]
10.

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.

Hum Genet. 2011 Mar;129(3):255-69. doi: 10.1007/s00439-010-0918-0. Epub 2010 Nov 30. Erratum in: Hum Genet. 2011 Mar;129(3):271. Sibillec, Jérémie [corrected to Sibille, Jérémie].

PMID:
21116650
[PubMed - indexed for MEDLINE]
11.

The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion.

Zeniou-Meyer M, Gambino F, Ammar MR, Humeau Y, Vitale N.

Cell Mol Neurobiol. 2010 Nov;30(8):1401-6. doi: 10.1007/s10571-010-9578-9. Review.

PMID:
21061166
[PubMed - indexed for MEDLINE]
12.

Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis.

Dugani CB, Paquin A, Kaplan DR, Miller FD.

Dev Biol. 2010 Nov 15;347(2):348-59. doi: 10.1016/j.ydbio.2010.08.035. Epub 2010 Sep 8.

PMID:
20832397
[PubMed - indexed for MEDLINE]
Free Article
13.

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M.

Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15.

PMID:
20637903
[PubMed - indexed for MEDLINE]
14.

Ras and Rap signaling in synaptic plasticity and mental disorders.

Stornetta RL, Zhu JJ.

Neuroscientist. 2011 Feb;17(1):54-78. doi: 10.1177/1073858410365562. Epub 2010 Apr 29. Review.

PMID:
20431046
[PubMed - indexed for MEDLINE]
Free PMC Article

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