Schwartz CE - Search Results

1

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Among authors: schwartz ce. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.

2

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Suthers GK, Mulley JC, Voelckel MA, Dahl N, Väisänen ML, Steinbach P, Glass IA, Schwartz CE, van Oost BA, Thibodeau SN, et al. Suthers GK, et al. Among authors: schwartz ce. Am J Hum Genet. 1991 Mar;48(3):460-7. Am J Hum Genet. 1991. PMID: 1671806 Free PMC article.

3

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA. Berg JN, et al. Among authors: schwartz ce. Am J Hum Genet. 1997 Jul;61(1):60-7. doi: 10.1086/513903. Am J Hum Genet. 1997. PMID: 9245985 Free PMC article.

4

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.

Plenge RM, Tranebjaerg L, Jensen PK, Schwartz C, Willard HF. Plenge RM, et al. Am J Hum Genet. 1999 Mar;64(3):759-67. doi: 10.1086/302286. Am J Hum Genet. 1999. PMID: 10053010 Free PMC article.

5

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE. Abidi F, et al. Among authors: schwartz ce. Eur J Hum Genet. 1999 Jan;7(1):20-6. doi: 10.1038/sj.ejhg.5200231. Eur J Hum Genet. 1999. PMID: 10094187

6

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.

Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF. Plenge RM, et al. Among authors: schwartz ce. Am J Hum Genet. 2002 Jul;71(1):168-73. doi: 10.1086/341123. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12068376 Free PMC article.

7

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G. Ramser J, et al. Among authors: schwartz ce. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3. Hum Mol Genet. 2005. PMID: 15746149

8

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Schwartz CE, et al. Am J Hum Genet. 2005 Jul;77(1):41-53. doi: 10.1086/431313. Epub 2005 May 11. Am J Hum Genet. 2005. PMID: 15889350 Free PMC article.

9

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: schwartz ce. Hum Genet. 2006 Jan;118(5):578-90. doi: 10.1007/s00439-005-0072-2. Epub 2005 Oct 26. Hum Genet. 2006. PMID: 16249884

10

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, Barthorpe S, Buck G, Butler A, Cole J, Dicks E, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, West S, Widaa S, Yates A, Catford R, Butler J, Mallya U, Moon J, Luo Y, Dorkins H, Thompson D, Easton DF, Wooster R, Bobrow M, Carpenter N, Simensen RJ, Schwartz CE, Stevenson RE, Turner G, Partington M, Gecz J, Stratton MR, Futreal PA, Raymond FL. Tarpey PS, et al. Among authors: schwartz ce. Am J Hum Genet. 2006 Dec;79(6):1119-24. doi: 10.1086/510137. Epub 2006 Nov 1. Am J Hum Genet. 2006. PMID: 17186471 Free PMC article.

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