Lockhart PJ - Search Results

1

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

Phelan DG, Anderson DJ, Howden SE, Wong RC, Hickey PF, Pope K, Wilson GR, Pébay A, Davis AM, Petrou S, Elefanty AG, Stanley EG, James PA, Macciocca I, Bahlo M, Cheung MM, Amor DJ, Elliott DA, Lockhart PJ. Phelan DG, et al. Among authors: lockhart pj. Eur Heart J. 2016 Sep 1;37(33):2586-90. doi: 10.1093/eurheartj/ehw160. Epub 2016 Apr 22. Eur Heart J. 2016. PMID: 27106955

2

Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain.

Brody KM, Taylor JM, Wilson GR, Delatycki MB, Lockhart PJ. Brody KM, et al. Among authors: lockhart pj. Brain Res. 2008 Mar 27;1201:177-86. doi: 10.1016/j.brainres.2008.01.050. Epub 2008 Jan 30. Brain Res. 2008. PMID: 18295750

3

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

Wilson GR, Sim ML, Brody KM, Taylor JM, McLachlan RI, O'Bryan MK, Delatycki MB, Lockhart PJ. Wilson GR, et al. Among authors: lockhart pj. Fertil Steril. 2010 May 1;93(7):2262-8. doi: 10.1016/j.fertnstert.2009.01.079. Epub 2009 Mar 6. Fertil Steril. 2010. PMID: 19268936 Free article.

4

Expression and localization of the Parkin co-regulated gene in mouse CNS suggests a role in ependymal cilia function.

Wilson GR, Tan JT, Brody KM, Taylor JM, Delatycki MB, Lockhart PJ. Wilson GR, et al. Among authors: lockhart pj. Neurosci Lett. 2009 Aug 21;460(1):97-101. doi: 10.1016/j.neulet.2009.05.043. Epub 2009 May 20. Neurosci Lett. 2009. PMID: 19463890

5

Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools.

Delatycki MB, Wolthuizen M, Collins V, Varley E, Craven J, Allen KJ, Aitken MA, Bond L, Lockhart PJ, Wilson GR, Macciocca I, Metcalfe SA. Delatycki MB, et al. Among authors: lockhart pj. Clin Genet. 2010 Mar;77(3):241-8. doi: 10.1111/j.1399-0004.2009.01308.x. Epub 2009 Nov 23. Clin Genet. 2010. PMID: 19930418

6

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

Wilson GR, Wang HX, Egan GF, Robinson PJ, Delatycki MB, O'Bryan MK, Lockhart PJ. Wilson GR, et al. Among authors: lockhart pj. Hum Mol Genet. 2010 Apr 15;19(8):1593-602. doi: 10.1093/hmg/ddq031. Epub 2010 Jan 27. Hum Mol Genet. 2010. PMID: 20106870

7

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.

Stark Z, Bruno DL, Mountford H, Lockhart PJ, Amor DJ. Stark Z, et al. Among authors: lockhart pj. Eur J Med Genet. 2010 Sep-Oct;53(5):337-9. doi: 10.1016/j.ejmg.2010.07.009. Epub 2010 Jul 27. Eur J Med Genet. 2010. PMID: 20670697

8

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.

Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, Aftimos S, Delatycki MB, Savarirayan R, Jackson IJ, Amor DJ. Mill P, et al. Among authors: lockhart pj. Am J Hum Genet. 2011 Apr 8;88(4):508-15. doi: 10.1016/j.ajhg.2011.03.015. Am J Hum Genet. 2011. PMID: 21473986 Free PMC article.

9

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M. Smith KR, et al. Among authors: lockhart pj. Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85. Genome Biol. 2011. PMID: 21917141 Free PMC article.

10

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

Delatycki MB, Wolthuizen M, Collins V, Varley E, Craven J, Allen KJ, Gurrin LC, Aitken M, Trembath MK, Bond L, Wilson GR, Stephenson SE, Macciocca I, Hickerton C, Lockhart PJ, Metcalfe SA. Delatycki MB, et al. Among authors: lockhart pj. Eur J Hum Genet. 2012 May;20(5):505-9. doi: 10.1038/ejhg.2011.247. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234159 Free PMC article.

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