Bachinski L - Search Results

1

A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes.

Smeets H, Bachinski L, Coerwinkel M, Schepens J, Hoeijmakers J, van Duin M, Grzeschik KH, Weber CA, de Jong P, Siciliano MJ, et al. Smeets H, et al. Among authors: bachinski l. Am J Hum Genet. 1990 Mar;46(3):492-501. Am J Hum Genet. 1990. PMID: 2309701 Free PMC article.

2

A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.

Johnson K, Shelbourne P, Davies J, Buxton J, Nimmo E, Siciliano MJ, Bachinski LL, Anvret M, Harley H, Rundle S, et al. Johnson K, et al. Among authors: bachinski ll. Am J Hum Genet. 1990 Jun;46(6):1073-81. Am J Hum Genet. 1990. PMID: 1971149 Free PMC article.

3

Human creatine kinase genes on chromosomes 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair.

Stallings RL, Olson E, Strauss AW, Thompson LH, Bachinski LL, Siciliano MJ. Stallings RL, et al. Among authors: bachinski ll. Am J Hum Genet. 1988 Aug;43(2):144-51. Am J Hum Genet. 1988. PMID: 3400641 Free PMC article.

4

The CCAAT/enhancer binding protein (C/EBP alpha) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP beta) gene (CEBPB) maps to human chromosome 20q13.1.

Hendricks-Taylor LR, Bachinski LL, Siciliano MJ, Fertitta A, Trask B, de Jong PJ, Ledbetter DH, Darlington GJ. Hendricks-Taylor LR, et al. Among authors: bachinski ll. Genomics. 1992 Sep;14(1):12-7. doi: 10.1016/s0888-7543(05)80276-9. Genomics. 1992. PMID: 1427819

5

An informative panel of somatic cell hybrids for physical mapping on human chromosome 19q.

Bachinski LL, Krahe R, White BF, Wieringa B, Shaw D, Korneluk R, Thompson LH, Johnson K, Siciliano MJ. Bachinski LL, et al. Am J Hum Genet. 1993 Feb;52(2):375-87. Am J Hum Genet. 1993. PMID: 8430698 Free PMC article.

6

Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO: a third repair gene on human chromosome 19.

Thompson LH, Bachinski LL, Stallings RL, Dolf G, Weber CA, Westerveld A, Siciliano MJ. Thompson LH, et al. Among authors: bachinski ll. Genomics. 1989 Nov;5(4):670-9. doi: 10.1016/0888-7543(89)90107-9. Genomics. 1989. PMID: 2591959

7

Premutation allele pool in myotonic dystrophy type 2.

Bachinski LL, Czernuszewicz T, Ramagli LS, Suominen T, Shriver MD, Udd B, Siciliano MJ, Krahe R. Bachinski LL, et al. Neurology. 2009 Feb 10;72(6):490-7. doi: 10.1212/01.wnl.0000333665.01888.33. Epub 2008 Nov 19. Neurology. 2009. PMID: 19020295 Free PMC article.

8

Molecular cloning, expression, and chromosome 19 localization of a human Ro/SS-A autoantigen.

McCauliffe DP, Lux FA, Lieu TS, Sanz I, Hanke J, Newkirk MM, Bachinski LL, Itoh Y, Siciliano MJ, Reichlin M, et al. McCauliffe DP, et al. Among authors: bachinski ll. J Clin Invest. 1990 May;85(5):1379-91. doi: 10.1172/JCI114582. J Clin Invest. 1990. PMID: 2332496 Free PMC article.

9

Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle.

Ahmad F, Gonzalez O, Ramagli L, Xu J, Siciliano MJ, Bachinski LL, Roberts R. Ahmad F, et al. Among authors: bachinski ll. Genomics. 2000 Dec 15;70(3):347-53. doi: 10.1006/geno.2000.6399. Genomics. 2000. PMID: 11161785

10

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R. Bachinski LL, et al. Am J Hum Genet. 2003 Oct;73(4):835-48. doi: 10.1086/378566. Epub 2003 Sep 10. Am J Hum Genet. 2003. PMID: 12970845 Free PMC article.

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