Gardiner RM - Search Results

1

Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans.

Munroe PB, Strautnieks SS, Farrall M, Daniel HI, Lawson M, DeFreitas P, Fogarty P, Gardiner RM, Caulfield M. Munroe PB, et al. Among authors: gardiner rm. Am J Hypertens. 1998 Aug;11(8 Pt 1):942-5. doi: 10.1016/s0895-7061(98)00092-2. Am J Hypertens. 1998. PMID: 9715786

2

A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.

Strautnieks SS, Thompson RJ, Gardiner RM, Chung E. Strautnieks SS, et al. Among authors: gardiner rm. Nat Genet. 1996 Jun;13(2):248-50. doi: 10.1038/ng0696-248. Nat Genet. 1996. PMID: 8640238

3

Analysis of Batten disease candidate genes STP and STM.

Munroe PB, Mitchison HM, Dooley TP, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: gardiner rm. Am J Med Genet. 1995 Jun 5;57(2):324-6. doi: 10.1002/ajmg.1320570244. Am J Med Genet. 1995. PMID: 7668356

4

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.

Strautnieks SS, Thompson RJ, Hanukoglu A, Dillon MJ, Hanukoglu I, Kuhnle U, Seckl J, Gardiner RM, Chung E. Strautnieks SS, et al. Among authors: gardiner rm. Hum Mol Genet. 1996 Feb;5(2):293-9. doi: 10.1093/hmg/5.2.293. Hum Mol Genet. 1996. PMID: 8824886

5

Locus heterogeneity in progressive familial intrahepatic cholestasis.

Strautnieks SS, Kagalwalla AF, Tanner MS, Gardiner RM, Thompson RJ. Strautnieks SS, et al. Among authors: gardiner rm. J Med Genet. 1996 Oct;33(10):833-6. doi: 10.1136/jmg.33.10.833. J Med Genet. 1996. PMID: 8933336 Free PMC article.

6

Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.

Saxena A, Hanukoglu I, Strautnieks SS, Thompson RJ, Gardiner RM, Hanukoglu A. Saxena A, et al. Among authors: gardiner rm. Biochem Biophys Res Commun. 1998 Nov 9;252(1):208-13. doi: 10.1006/bbrc.1998.9625. Biochem Biophys Res Commun. 1998. PMID: 9813171

7

Prenatal diagnosis of Batten's disease.

Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I. Munroe PB, et al. Among authors: gardiner rm. Lancet. 1996 Apr 13;347(9007):1014-5. doi: 10.1016/s0140-6736(96)90148-8. Lancet. 1996. PMID: 8606564

8

Spectrum of mutations in the Batten disease gene, CLN3.

Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: gardiner rm. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.

9

Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.

Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ. Strautnieks SS, et al. Among authors: gardiner rm. Am J Hum Genet. 1997 Sep;61(3):630-3. doi: 10.1086/515501. Am J Hum Genet. 1997. PMID: 9326328 Free PMC article.

10

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

Munroe PB, Olgunturk RO, Fryns JP, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner RM, Chung E. Munroe PB, et al. Among authors: gardiner rm. Nat Genet. 1999 Jan;21(1):142-4. doi: 10.1038/5102. Nat Genet. 1999. PMID: 9916809

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