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Page 1
Rapid direct sequence analysis of the dystrophin gene.
Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Flanigan KM, et al. Am J Hum Genet. 2003 Apr;72(4):931-9. doi: 10.1086/374176. Epub 2003 Mar 11. Am J Hum Genet. 2003. PMID: 12632325 Free PMC article.
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Lampe AK, et al. Among authors: flanigan km. J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754. J Med Genet. 2005. PMID: 15689448 Free PMC article.
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM. Soltanzadeh P, et al. Among authors: flanigan km. Neuromuscul Disord. 2010 Aug;20(8):499-504. doi: 10.1016/j.nmd.2010.05.010. Epub 2010 Jul 13. Neuromuscul Disord. 2010. PMID: 20630757 Free PMC article.
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426. Hum Mutat. 2011. PMID: 21972111 Free PMC article.
Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Mendell JR, et al. Among authors: flanigan km. Ann Neurol. 2012 Mar;71(3):304-13. doi: 10.1002/ana.23528. Ann Neurol. 2012. PMID: 22451200
191 results