Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

125 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: carpenter n. 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.
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.
Carpenter-Waziri syndrome results from a mutation in XNP.
Abidi F, Schwartz CE, Carpenter NJ, Villard L, Fontés M, Curtis M. Abidi F, et al. Among authors: carpenter nj. Am J Med Genet. 1999 Jul 30;85(3):249-51. doi: 10.1002/(sici)1096-8628(19990730)85:3<249::aid-ajmg12>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10398237 No abstract available.
Longitudinal changes in cognitive-behavioral levels in three children with FRAXE.
Fisch GS, Carpenter NJ, Simensen R, Smits AP, van Roosmalen T, Hamel BC. Fisch GS, et al. Among authors: carpenter nj. Am J Med Genet. 1999 May 28;84(3):291-2. doi: 10.1002/(sici)1096-8628(19990528)84:3<291::aid-ajmg25>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10331610 No abstract available.
125 results