McNoe LA - Search Results

1

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR. Cunliffe HE, et al. Among authors: mcnoe la. J Med Genet. 1998 Oct;35(10):806-12. doi: 10.1136/jmg.35.10.806. J Med Genet. 1998. PMID: 9783702 Free PMC article.

2

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

Porteous S, Torban E, Cho NP, Cunliffe H, Chua L, McNoe L, Ward T, Souza C, Gus P, Giugliani R, Sato T, Yun K, Favor J, Sicotte M, Goodyer P, Eccles M. Porteous S, et al. Hum Mol Genet. 2000 Jan 1;9(1):1-11. doi: 10.1093/hmg/9.1.1. Hum Mol Genet. 2000. PMID: 10587573

3

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Sanyanusin P, et al. Among authors: mcnoe la. Nat Genet. 1995 Apr;9(4):358-64. doi: 10.1038/ng0495-358. Nat Genet. 1995. PMID: 7795640

4

Mutation of PAX2 in two siblings with renal-coloboma syndrome.

Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR. Sanyanusin P, et al. Among authors: mcnoe la. Hum Mol Genet. 1995 Nov;4(11):2183-4. doi: 10.1093/hmg/4.11.2183. Hum Mol Genet. 1995. PMID: 8589702 No abstract available.

5

Genomic structure of the human PAX2 gene.

Sanyanusin P, Norrish JH, Ward TA, Nebel A, McNoe LA, Eccles MR. Sanyanusin P, et al. Among authors: mcnoe la. Genomics. 1996 Jul 1;35(1):258-61. doi: 10.1006/geno.1996.0350. Genomics. 1996. PMID: 8661132

6

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR. Schimmenti LA, et al. Among authors: mcnoe la. Am J Hum Genet. 1997 Apr;60(4):869-78. Am J Hum Genet. 1997. PMID: 9106533 Free PMC article.

7

Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux.

Choi KL, McNoe LA, French MC, Guilford PJ, Eccles MR. Choi KL, et al. Among authors: mcnoe la. J Med Genet. 1998 Apr;35(4):338-9. doi: 10.1136/jmg.35.4.338. J Med Genet. 1998. PMID: 9598733 Free PMC article.

8

Dinucleotide repeat polymorphism at the D11S860 locus.

McNoe LA, Eccles MR, Reeve AE. McNoe LA, et al. Nucleic Acids Res. 1992 Mar 11;20(5):1161. doi: 10.1093/nar/20.5.1161-a. Nucleic Acids Res. 1992. PMID: 1549497 Free PMC article. No abstract available.

9

Human insulin-like growth factor type I and type II receptors are not imprinted.

Ogawa O, McNoe LA, Eccles MR, Morison IM, Reeve AE. Ogawa O, et al. Among authors: mcnoe la. Hum Mol Genet. 1993 Dec;2(12):2163-5. doi: 10.1093/hmg/2.12.2163. Hum Mol Genet. 1993. PMID: 8111387

10

Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies.

Erickson RP, Stone JF, McNoe LA, Eccles MR. Erickson RP, et al. Among authors: mcnoe la. Clin Genet. 1997 May;51(5):331-7. doi: 10.1111/j.1399-0004.1997.tb02483.x. Clin Genet. 1997. PMID: 9212182

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