Kunkel LM - Search Results

1

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM. Bennett RR, et al. Among authors: kunkel lm. BMC Genet. 2009 Oct 18;10:66. doi: 10.1186/1471-2156-10-66. BMC Genet. 2009. PMID: 19835634 Free PMC article.

2

LGMD2I in a North American population.

Kang PB, Feener CA, Estrella E, Thorne M, White AJ, Darras BT, Amato AA, Kunkel LM. Kang PB, et al. Among authors: kunkel lm. BMC Musculoskelet Disord. 2007 Nov 24;8:115. doi: 10.1186/1471-2474-8-115. BMC Musculoskelet Disord. 2007. PMID: 18036232 Free PMC article.

3

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: kunkel lm. BMC Med Genet. 2011 Jun 28;12:87. doi: 10.1186/1471-2350-12-87. BMC Med Genet. 2011. PMID: 21708040 Free PMC article.

4

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

Mizuno Y, Puca AA, O'Brien KF, Beggs AH, Kunkel LM. Mizuno Y, et al. Among authors: kunkel lm. BMC Genet. 2001;2:8. doi: 10.1186/1471-2156-2-8. Epub 2001 Jun 20. BMC Genet. 2001. PMID: 11454237 Free PMC article.

5

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM. Bennett RR, et al. Among authors: kunkel lm. BMC Genet. 2001;2:17. doi: 10.1186/1471-2156-2-17. Epub 2001 Oct 17. BMC Genet. 2001. PMID: 11710958 Free PMC article.

6

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. Reddy HM, et al. Among authors: kunkel lm. J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6. J Hum Genet. 2017. PMID: 27708273 Free PMC article.

7

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle.

Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, Kohane IS, Beggs AH, Kunkel LM. Haslett JN, et al. Among authors: kunkel lm. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15000-5. doi: 10.1073/pnas.192571199. Epub 2002 Nov 1. Proc Natl Acad Sci U S A. 2002. PMID: 12415109 Free PMC article.

8

Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.

Haslett JN, Sanoudou D, Kho AT, Han M, Bennett RR, Kohane IS, Beggs AH, Kunkel LM. Haslett JN, et al. Among authors: kunkel lm. Neurogenetics. 2003 Aug;4(4):163-71. doi: 10.1007/s10048-003-0148-x. Epub 2003 Apr 16. Neurogenetics. 2003. PMID: 12698323

9

Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish.

Kunkel LM, Bachrach E, Bennett RR, Guyon J, Steffen L. Kunkel LM, et al. J Hum Genet. 2006;51(5):397-406. doi: 10.1007/s10038-006-0374-9. Epub 2006 Apr 1. J Hum Genet. 2006. PMID: 16583129 Free PMC article. Review.

10

Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.

Kang PB, Lidov HG, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM. Kang PB, et al. Among authors: kunkel lm. Muscle Nerve. 2010 Jun;41(6):746-50. doi: 10.1002/mus.21702. Muscle Nerve. 2010. PMID: 20513101 Free PMC article.

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