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A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H.

Genomics. 1999 Dec 15;62(3):332-43.


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.

Am J Hum Genet. 2002 Jun;70(6):1421-33. Epub 2002 Apr 25.


X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG, et al.

Hum Mol Genet. 1994 Jul;3(7):1151-4.


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.

Nature. 1996 Dec 12;384(6609):567-70.


A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D.

Nat Genet. 1996 Oct;14(2):177-80.


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.

Am J Hum Genet. 1998 Dec;63(6):1631-40.


Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.

van der Maarel SM, Scholten IH, Maat-Kievit JA, Huber I, de Kok YJ, de Wijs I, van de Pol TJ, van Bokhoven H, den Dunnen JT, van Ommen GJ, et al.

Eur J Hum Genet. 1995;3(4):207-18.


Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL.

Am J Hum Genet. 1989 Oct;45(4):530-40.


Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP.

Science. 1995 Feb 3;267(5198):685-8.


Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.

Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG.

Eur J Hum Genet. 2000 Feb;8(2):87-94.


Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.

Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4096-104. doi: 10.1167/iovs.08-2044. Epub 2008 May 16.


Cloning and characterization of the human choroideremia gene.

van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP.

Hum Mol Genet. 1994 Jul;3(7):1041-6.


Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G.

Clin Genet. 2006 Dec;70(6):509-15.


Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP.

Hum Mol Genet. 1996 Sep;5(9):1229-35.


Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.

McCandless SE, Schwartz S, Morrison S, Garlapati K, Robin NH.

Am J Med Genet. 2000 Nov 13;95(2):93-8.


A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

Sismani C, Syrrou M, Christodoulou K, Hamel B, Chelly J, Yntema HG, van Bokhoven H, Tzoufi M, Georgiou I, Patsalis PC.

Am J Med Genet A. 2003 Sep 15;122A(1):46-50.


Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM.

Am J Hum Genet. 2003 Dec;73(6):1341-54. Epub 2003 Nov 18.


Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C.

Hum Mol Genet. 1995 Aug;4(8):1465-6. No abstract available.


A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrié A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J.

Nat Genet. 2000 Feb;24(2):167-70.

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