Johnson K - Search Results

1

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.

Hofmann-Radvanyi H, Lavedan C, Rabès JP, Savoy D, Duros C, Johnson K, Junien C. Hofmann-Radvanyi H, et al. Among authors: johnson k. Hum Mol Genet. 1993 Aug;2(8):1263-6. doi: 10.1093/hmg/2.8.1263. Hum Mol Genet. 1993. PMID: 7691346

2

Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.

Lavedan C, Hofmann H, Shelbourne P, Duros C, Savoy D, Johnson K, Junien C. Lavedan C, et al. Among authors: johnson k. J Med Genet. 1991 Feb;28(2):89-91. doi: 10.1136/jmg.28.2.89. J Med Genet. 1991. PMID: 2002492 Free PMC article.

3

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C. Lavedan C, et al. Among authors: johnson k. Am J Hum Genet. 1993 May;52(5):875-83. Am J Hum Genet. 1993. PMID: 8098180 Free PMC article.

4

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.

Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edström L. Anvret M, et al. Among authors: johnson k. Hum Mol Genet. 1993 Sep;2(9):1397-400. doi: 10.1093/hmg/2.9.1397. Hum Mol Genet. 1993. PMID: 8242063

5

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.

Martorell L, Monckton DG, Gamez J, Johnson KJ, Gich I, Lopez de Munain A, Baiget M. Martorell L, et al. Among authors: johnson kj. Hum Mol Genet. 1998 Feb;7(2):307-12. doi: 10.1093/hmg/7.2.307. Hum Mol Genet. 1998. PMID: 9425239

6

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K. Shelbourne P, et al. Among authors: johnson k. Hum Mol Genet. 1992 Oct;1(7):467-73. doi: 10.1093/hmg/1.7.467. Hum Mol Genet. 1992. PMID: 1307246

7

Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters.

Cobo A, Martinez JM, Martorell L, Baiget M, Johnson K. Cobo A, et al. Among authors: johnson k. Hum Mol Genet. 1993 Jun;2(6):711-5. doi: 10.1093/hmg/2.6.711. Hum Mol Genet. 1993. PMID: 8353490

8

Origin of the expansion mutation in myotonic dystrophy.

Imbert G, Kretz C, Johnson K, Mandel JL. Imbert G, et al. Among authors: johnson k. Nat Genet. 1993 May;4(1):72-6. doi: 10.1038/ng0593-72. Nat Genet. 1993. PMID: 8513329

9

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.

Winchester CL, Ferrier RK, Sermoni A, Clark BJ, Johnson KJ. Winchester CL, et al. Among authors: johnson kj. Hum Mol Genet. 1999 Mar;8(3):481-92. doi: 10.1093/hmg/8.3.481. Hum Mol Genet. 1999. PMID: 9949207

10

Myotonic dystrophy: will the real gene please step forward!

Harris S, Moncrieff C, Johnson K. Harris S, et al. Among authors: johnson k. Hum Mol Genet. 1996;5 Spec No:1417-23. doi: 10.1093/hmg/5.supplement_1.1417. Hum Mol Genet. 1996. PMID: 8875246 Review.

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