Delatycki MB - Search Results

1

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ, Leventer RJ. Scerri T, et al. Among authors: delatycki mb. Ann Clin Transl Neurol. 2015 May;2(5):575-80. doi: 10.1002/acn3.191. Epub 2015 Mar 12. Ann Clin Transl Neurol. 2015. PMID: 26000329 Free PMC article.

2

A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.

Delatycki MB, Cleary MA, Bankier A, McDougall PN, Ahluwalia JS, Chow CW, Cooke-Yarborough CM. Delatycki MB, et al. J Med Genet. 1997 Jun;34(6):520-4. doi: 10.1136/jmg.34.6.520. J Med Genet. 1997. PMID: 9192279 Free PMC article.

3

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.

Amor DJ, Delatycki MB, Gardner RJ, Storey E. Amor DJ, et al. Among authors: delatycki mb. Am J Med Genet. 2001 Feb 15;99(1):29-33. doi: 10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11170090 Review.

4

Genetic factors in athetoid cerebral palsy.

Amor DJ, Craig JE, Delatycki MB, Reddihough D. Amor DJ, et al. Among authors: delatycki mb. J Child Neurol. 2001 Nov;16(11):793-7. doi: 10.1177/08830738010160110301. J Child Neurol. 2001. PMID: 11732763

5

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.

Fahey MC, Knight MA, Shaw JH, Gardner RJ, du Sart D, Lockhart PJ, Delatycki MB, Gates PC, Storey E. Fahey MC, et al. Among authors: delatycki mb. J Neurol Neurosurg Psychiatry. 2005 Dec;76(12):1720-2. doi: 10.1136/jnnp.2004.044115. J Neurol Neurosurg Psychiatry. 2005. PMID: 16291902 Free PMC article.

6

Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases.

Taylor JM, Song YJ, Huang Y, Farrer MJ, Delatycki MB, Halliday GM, Lockhart PJ. Taylor JM, et al. Among authors: delatycki mb. Neurobiol Dis. 2007 Aug;27(2):238-47. doi: 10.1016/j.nbd.2007.04.014. Epub 2007 May 18. Neurobiol Dis. 2007. PMID: 17590346

7

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: delatycki mb. 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

8

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population.

Taylor JM, Wu RM, Lin CH, Delatycki MB, Lockhart PJ. Taylor JM, et al. Among authors: delatycki mb. Parkinsonism Relat Disord. 2009 Feb;15(2):149-52. doi: 10.1016/j.parkreldis.2008.02.010. Epub 2008 Apr 2. Parkinsonism Relat Disord. 2009. PMID: 18387843

9

Identification and validation of control cell lines for accurate parkin dosage analysis.

Taylor JM, Delatycki MB, Lockhart PJ. Taylor JM, et al. Among authors: delatycki mb. J Neurosci Methods. 2009 Jan 30;176(2):68-71. doi: 10.1016/j.jneumeth.2008.08.029. Epub 2008 Sep 5. J Neurosci Methods. 2009. PMID: 18817813

10

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223

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