Gardiner RM - Search Results

1

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.

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

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

4

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.

5

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. Strautnieks SS, et al. Among authors: gardiner rm. Nat Genet. 1998 Nov;20(3):233-8. doi: 10.1038/3034. Nat Genet. 1998. PMID: 9806540

6

Identification of disease genes.

Thompson R, Gardiner RM. Thompson R, et al. Among authors: gardiner rm. Br J Hosp Med. 1997 Mar 19-Apr 1;57(6):287-8. Br J Hosp Med. 1997. PMID: 9196577 No abstract available.

7

Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.

Chung E, Hanukoglu A, Rees M, Thompson R, Dillon M, Hanukoglu I, Bistritzer T, Kuhnle U, Seckl J, Gardiner RM. Chung E, et al. Among authors: gardiner rm. J Clin Endocrinol Metab. 1995 Nov;80(11):3341-5. doi: 10.1210/jcem.80.11.7593448. J Clin Endocrinol Metab. 1995. PMID: 7593448

8

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

9

Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis.

Gardiner RM. Gardiner RM. Am J Med Genet. 1992 Feb 15;42(4):539-41. doi: 10.1002/ajmg.1320420423. Am J Med Genet. 1992. PMID: 1351702

10

Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.

Chung E, Coffey R, Parker K, Tam P, Pembrey ME, Gardiner RM. Chung E, et al. Among authors: gardiner rm. J Med Genet. 1993 May;30(5):393-5. doi: 10.1136/jmg.30.5.393. J Med Genet. 1993. PMID: 8320701 Free PMC article.

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