Chandler D - Search Results

1

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

Boutilier JK, Taylor RL, Ram R, McNamara E, Nguyen Q, Goullée H, Chandler D, Mehta M, Balmer L, Laing NG, Morahan G, Nowak KJ. Boutilier JK, et al. Among authors: chandler d. Biochim Biophys Acta Gene Regul Mech. 2017 Oct;1860(10):1025-1036. doi: 10.1016/j.bbagrm.2017.08.004. Epub 2017 Aug 26. Biochim Biophys Acta Gene Regul Mech. 2017. PMID: 28847732

2

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.

Wilton SD, Chandler DC, Kakulas BA, Laing NG. Wilton SD, et al. Among authors: chandler dc. Hum Mutat. 1994;3(2):133-40. doi: 10.1002/humu.1380030208. Hum Mutat. 1994. PMID: 8199594

3

Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?

Laing NG, Layton MG, Johnsen RD, Chandler DC, Mears ME, Goldblatt J, Kakulas BA. Laing NG, et al. Among authors: chandler dc. Am J Med Genet. 1992 Mar 1;42(5):688-92. doi: 10.1002/ajmg.1320420512. Am J Med Genet. 1992. PMID: 1632439

4

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. Scriba CK, et al. Brain. 2020 Oct 1;143(10):2904-2910. doi: 10.1093/brain/awaa263. Brain. 2020. PMID: 33103729 Free PMC article.

5

Duchenne muscular dystrophy (DMD) gene cDNA 8 PstI and TaqI polymorphisms involve exon 51 of the HindIII map.

Laing NG, Akkari PA, Chandler DC, Thomas HE, Layton MG, Mears ME, Kakulas BA. Laing NG, et al. Among authors: chandler dc. Nucleic Acids Res. 1990 Jul 25;18(14):4284. doi: 10.1093/nar/18.14.4284. Nucleic Acids Res. 1990. PMID: 1974044 Free PMC article. No abstract available.

6

The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D.

Chandler D, Lopaticki S, Huang D, Hunter M, Angelicheva D, Kilpatrick T, King RH, Kalaydjieva L, Morahan G. Chandler D, et al. F1000Res. 2013 Feb 13;2:46. doi: 10.12688/f1000research.2-46.v1. eCollection 2013. F1000Res. 2013. PMID: 24715951 Free PMC article.

7

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L. Hantke J, et al. Among authors: chandler d. Eur J Hum Genet. 2009 Dec;17(12):1606-14. doi: 10.1038/ejhg.2009.99. Epub 2009 Jun 17. Eur J Hum Genet. 2009. PMID: 19536174 Free PMC article.

8

Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms.

Laing NG, Walker AP, Akkari PA, Chandler DC, Layton MG, Mears ME, Yamada T, Bartlett RJ, Pericak-Vance MA, Hung WY, et al. Laing NG, et al. Among authors: chandler dc. Prenat Diagn. 1991 Jan;11(1):63-7. doi: 10.1002/pd.1970110112. Prenat Diagn. 1991. PMID: 1709287

9

A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.

Walker AP, Laing NG, Yamada T, Chandler DC, Kakulas BA, Bartlett RJ. Walker AP, et al. Among authors: chandler dc. J Med Genet. 1992 Jan;29(1):14-9. doi: 10.1136/jmg.29.1.14. J Med Genet. 1992. PMID: 1552537 Free PMC article.

10

Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.

Chandler D, Tinschert S, Lohan K, Harrop K, Goldblatt J, Nagy M, Hummel S, Braun HS, Laing N, Nürnberg P. Chandler D, et al. Hum Genet. 2001 May;108(5):394-7. doi: 10.1007/s004390100515. Hum Genet. 2001. PMID: 11409866

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