Moore I - Search Results

1

Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases.

Hearle N, Lucassen A, Wang R, Lim W, Ross F, Wheeler R, Moore I, Shipley J, Houlston R. Hearle N, et al. Among authors: moore i. Genes Chromosomes Cancer. 2004 Oct;41(2):163-9. doi: 10.1002/gcc.20067. Genes Chromosomes Cancer. 2004. PMID: 15287029

2

Case of interstitial 12q deletion in association with Wilms tumor.

Rapley EA, Hargrave D, Persinguhe N, Barfoot R, Moore I, Radford M, Stratton MR, Rahman N, Pritchard-Jones K. Rapley EA, et al. Among authors: moore i. Am J Med Genet. 2001 Dec 1;104(3):246-9. Am J Med Genet. 2001. PMID: 11754052

3

Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.

Savage NM, Maclachlan NA, Joyce CA, Moore IE, Crolla JA. Savage NM, et al. Among authors: moore ie. J Med Genet. 1997 Oct;34(10):866-8. doi: 10.1136/jmg.34.10.866. J Med Genet. 1997. PMID: 9350825 Free PMC article.

4

Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).

Cockwell AE, James RS, Moore IE, Hatchwell E, Crolla JA. Cockwell AE, et al. Among authors: moore ie. J Med Genet. 1996 Jun;33(6):515-7. doi: 10.1136/jmg.33.6.515. J Med Genet. 1996. PMID: 8782055 Free PMC article.

5

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect.

Cockwell AE, Baker SJ, Connarty M, Moore IE, Crolla JA. Cockwell AE, et al. Am J Med Genet A. 2006 Mar 15;140(6):624-7. doi: 10.1002/ajmg.a.31129. Am J Med Genet A. 2006. PMID: 16470696

6

Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs.

Dennis NR, Fairhurst J, Moore IE. Dennis NR, et al. Among authors: moore ie. Am J Med Genet. 1995 Dec 4;59(4):517-20. doi: 10.1002/ajmg.1320590421. Am J Med Genet. 1995. PMID: 8585575

7

Extending the overlap of three congenital overgrowth syndromes.

Coppin B, Moore I, Hatchwell E. Coppin B, et al. Among authors: moore i. Clin Genet. 1997 Jun;51(6):375-8. doi: 10.1111/j.1399-0004.1997.tb02494.x. Clin Genet. 1997. PMID: 9237499

8

An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations.

Cockwell AE, Gibbons B, Moore IE, Crolla JA. Cockwell AE, et al. Among authors: moore ie. J Med Genet. 2000 Oct;37(10):807-10. doi: 10.1136/jmg.37.10.807. J Med Genet. 2000. PMID: 11183190 Free PMC article. No abstract available.

9

A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests.

Prefumo F, Homfray T, Jeffrey I, Moore I, Thilaganathan B. Prefumo F, et al. Among authors: moore i. Am J Med Genet A. 2003 Jul 30;120A(3):386-8. doi: 10.1002/ajmg.a.20097. Am J Med Genet A. 2003. PMID: 12838560

10

Diagnosis of meconium peritonitis by orchidopexy.

Roberts JP, Malone PS, Moore I. Roberts JP, et al. Among authors: moore i. Eur J Pediatr Surg. 1995 Feb;5(1):50-1. doi: 10.1055/s-2008-1066164. Eur J Pediatr Surg. 1995. PMID: 7756238

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