Parker KA - Search Results

1

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Castleman VH, et al. Among authors: parker ka. Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200523 Free PMC article.

2

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, Puri P, Mitchison HM, Chung EM, Gardiner RM. Everett KV, et al. Among authors: parker ka. Am J Hum Genet. 2008 Mar;82(3):756-62. doi: 10.1016/j.ajhg.2007.12.023. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308288 Free PMC article.

3

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

Whitehouse WP, Rees M, Curtis D, Sundqvist A, Parker K, Chung E, Baralle D, Gardiner RM. Whitehouse WP, et al. Am J Hum Genet. 1993 Sep;53(3):652-62. Am J Hum Genet. 1993. PMID: 8352275 Free PMC article.

4

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Sharp JD, et al. Among authors: parker ka. Hum Mutat. 2003 Jul;22(1):35-42. doi: 10.1002/humu.10227. Hum Mutat. 2003. PMID: 12815591

5

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. 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.

6

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M. Fertleman CR, et al. Among authors: parker ka. Neuron. 2006 Dec 7;52(5):767-74. doi: 10.1016/j.neuron.2006.10.006. Neuron. 2006. PMID: 17145499 Free article.

7

Linkage analysis of idiopathic generalised epilepsy in families of probands with Juvenile Myoclonic Epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variants.

Rees M, Curtis D, Parker K, Sundqvist A, Baralle D, Bespalova IN, Burmeister M, Chung E, Gardiner RM, Whitehouse WP. Rees M, et al. Neuropediatrics. 1994 Feb;25(1):20-5. doi: 10.1055/s-2008-1071576. Neuropediatrics. 1994. PMID: 8208346

8

Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves.

Whitehouse W, Diebold U, Rees M, Parker K, Doose H, Gardiner RM. Whitehouse W, et al. Neuropediatrics. 1993 Aug;24(4):208-10. doi: 10.1055/s-2008-1071541. Neuropediatrics. 1993. PMID: 8232778

9

Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X region.

Rees M, Diebold U, Parker K, Doose H, Gardiner RM, Whitehouse WP. Rees M, et al. Neuropediatrics. 1993 Aug;24(4):211-3. doi: 10.1055/s-2008-1071542. Neuropediatrics. 1993. PMID: 8232779

10

Synergistic action of triiodothyronine and hydrocortisone on epinephrine-induced reabsorption of fetal lung liquid.

Barker PM, Markiewicz M, Parker KA, Walters DV, Strang LB. Barker PM, et al. Among authors: parker ka. Pediatr Res. 1990 Jun;27(6):588-91. doi: 10.1203/00006450-199006000-00010. Pediatr Res. 1990. PMID: 2356103

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