Carpenter N - Search Results

1

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, Holmberg E, Wadelius C, Kenwrick S. Jouet M, et al. Among authors: carpenter n. Am J Hum Genet. 1995 Jun;56(6):1304-14. Am J Hum Genet. 1995. PMID: 7762552 Free PMC article.

2

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.

3

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

Dorkins H, Junien C, Mandel JL, Wrogemann K, Moison JP, Martinez M, Old JM, Bundey S, Schwartz M, Carpenter N, et al. Dorkins H, et al. Among authors: carpenter n. Hum Genet. 1985;71(2):103-7. doi: 10.1007/BF00283362. Hum Genet. 1985. PMID: 2995231

4

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

Proud VK, Levine C, Carpenter NJ. Proud VK, et al. Among authors: carpenter nj. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):458-66. doi: 10.1002/ajmg.1320430169. Am J Med Genet. 1992. PMID: 1605226

5

X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.

Carpenter NJ, Qu Y, Curtis M, Patil SR. Carpenter NJ, et al. Am J Med Genet. 1999 Jul 30;85(3):230-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<230::aid-ajmg9>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10398234

6

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

Hofker MH, Bergen AA, Skraastad MI, Carpenter NJ, Veenema H, Connor JM, Bakker E, van Ommen GJ, Pearson PL. Hofker MH, et al. Among authors: carpenter nj. Am J Hum Genet. 1987 Apr;40(4):312-28. Am J Hum Genet. 1987. PMID: 2883888 Free PMC article.

7

Pulmonary agenesis: importance of detailed cytogenetic studies.

Say B, Carpenter NJ. Say B, et al. Among authors: carpenter nj. Am J Med Genet. 1998 Apr 13;76(5):446. Am J Med Genet. 1998. PMID: 9556306 No abstract available.

8

A new DNA probe proximal to and closely linked to fragile X.

Carpenter NJ, Veenema H, Bakker E, Hofker MH, Pearson PL. Carpenter NJ, et al. Am J Med Genet. 1987 Jul;27(3):731-2. doi: 10.1002/ajmg.1320270332. Am J Med Genet. 1987. PMID: 2888310 No abstract available.

9

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Kato M, et al. Among authors: carpenter nj. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. Hum Mutat. 2004. PMID: 14722918

10

Report of a case resembling the Proteus syndrome with a chromosome abnormality.

Say B, Carpenter NJ. Say B, et al. Among authors: carpenter nj. Am J Med Genet. 1988 Dec;31(4):987-9. doi: 10.1002/ajmg.1320310434. Am J Med Genet. 1988. PMID: 3239588 No abstract available.

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