Brewer MH - Search Results

1

SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.

Fogarty EA, Brewer MH, Rodriguez-Molina JF, Law WD, Ma KH, Steinberg NM, Svaren J, Antonellis A. Fogarty EA, et al. Among authors: brewer mh. Hum Mol Genet. 2016 Sep 15;25(18):3925-3936. doi: 10.1093/hmg/ddw233. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466180 Free PMC article.

2

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.

Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J. Jones EA, et al. Among authors: brewer mh. Hum Mol Genet. 2012 Apr 1;21(7):1581-91. doi: 10.1093/hmg/ddr595. Epub 2011 Dec 15. Hum Mol Genet. 2012. PMID: 22180461 Free PMC article.

3

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A. Brewer MH, et al. Hum Mol Genet. 2014 Oct 1;23(19):5171-87. doi: 10.1093/hmg/ddu240. Epub 2014 May 15. Hum Mol Genet. 2014. PMID: 24833716 Free PMC article.

4

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G, Kennerson M. Brewer M, et al. Neurogenetics. 2008 Jul;9(3):191-5. doi: 10.1007/s10048-008-0126-4. Epub 2008 May 6. Neurogenetics. 2008. PMID: 18458969 Free PMC article.

5

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G, Kennerson M. Chaudhry R, et al. Among authors: brewer mh. Muscle Nerve. 2013 Jun;47(6):922-4. doi: 10.1002/mus.23743. Epub 2013 Mar 29. Muscle Nerve. 2013. PMID: 23553728 Free PMC article.

6

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Narayanan RK, Brewer MH, Perez-Siles G, Ellis M, Ly C, Burgess A, Neumann B, Nicholson GA, Vucic S, Kennerson ML. Narayanan RK, et al. Among authors: brewer mh. Hum Mol Genet. 2021 Dec 17;31(1):133-145. doi: 10.1093/hmg/ddab228. Hum Mol Genet. 2021. PMID: 34387338 Free PMC article.

7

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

Drew AP, Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML. Drew AP, et al. Among authors: brewer mh. Hum Genet. 2016 Nov;135(11):1269-1278. doi: 10.1007/s00439-016-1720-4. Epub 2016 Aug 3. Hum Genet. 2016. PMID: 27487800

8

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML. Brewer MH, et al. PLoS Genet. 2016 Jul 20;12(7):e1006177. doi: 10.1371/journal.pgen.1006177. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27438001 Free PMC article.

9

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML. Cutrupi AN, et al. Among authors: brewer mh. Mol Genet Genomic Med. 2018 May;6(3):422-433. doi: 10.1002/mgg3.390. Epub 2018 Mar 23. Mol Genet Genomic Med. 2018. PMID: 29573232 Free PMC article. Review.

10

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

Kennerson ML, Warburton T, Nelis E, Brewer M, Polly P, De Jonghe P, Timmerman V, Nicholson GA. Kennerson ML, et al. Clin Chem. 2007 Feb;53(2):349-52. doi: 10.1373/clinchem.2006.080010. Epub 2007 Jan 2. Clin Chem. 2007. PMID: 17200131

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