Hjelm LN - Search Results

1

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST. Coffee B, et al. Among authors: hjelm ln. Am J Med Genet A. 2008 May 15;146A(10):1358-67. doi: 10.1002/ajmg.a.32261. Am J Med Genet A. 2008. PMID: 18412117 Free PMC article. Review.

2

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

Coffee B, Hjelm LN, DeLorenzo A, Courtney EM, Yu C, Muralidharan K. Coffee B, et al. Among authors: hjelm ln. Genet Med. 2006 Oct;8(10):635-40. doi: 10.1097/01.gim.0000237720.78475.fb. Genet Med. 2006. PMID: 17079880 Free article.

3

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

Hjelm LN, Chin EL, Hegde MR, Coffee BW, Bean LJ. Hjelm LN, et al. J Mol Diagn. 2010 Sep;12(5):607-10. doi: 10.2353/jmoldx.2010.100011. Epub 2010 Jul 15. J Mol Diagn. 2010. PMID: 20639189 Free PMC article.

4

Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.

Hussain Askree S, Hjelm LN, Ali Pervaiz M, Adam M, Bean LJ, Hedge M, Coffee B. Hussain Askree S, et al. Among authors: hjelm ln. J Mol Diagn. 2011 Jan;13(1):108-12. doi: 10.1016/j.jmoldx.2010.11.006. Epub 2010 Dec 23. J Mol Diagn. 2011. PMID: 21227401 Free PMC article.

5

Parent-of-origin testing for 15q11-q13 gains by quantitative DNA methylation analysis.

Askree SH, Dharamrup S, Hjelm LN, Coffee B. Askree SH, et al. Among authors: hjelm ln. J Mol Diagn. 2012 May-Jun;14(3):192-8. doi: 10.1016/j.jmoldx.2012.01.005. Epub 2012 Mar 14. J Mol Diagn. 2012. PMID: 22426236 Free article.

6

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP. Elsas LJ, et al. Among authors: hjelm ln. Am J Hum Genet. 1995 Mar;56(3):630-9. Am J Hum Genet. 1995. PMID: 7887416 Free PMC article.

7

Molecular basis for Duarte and Los Angeles variant galactosemia.

Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ. Langley SD, et al. Among authors: hjelm ln. Am J Hum Genet. 1997 Feb;60(2):366-72. Am J Hum Genet. 1997. PMID: 9012409 Free PMC article.

8

A common mutation associated with the Duarte galactosemia allele.

Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil J. Elsas LJ, et al. Among authors: hjelm ln. Am J Hum Genet. 1994 Jun;54(6):1030-6. Am J Hum Genet. 1994. PMID: 8198125 Free PMC article.

9

A molecular approach to galactosemia.

Elsas LJ 2nd, Langley S, Paulk EM, Hjelm LN, Dembure PP. Elsas LJ 2nd, et al. Among authors: hjelm ln. Eur J Pediatr. 1995;154(7 Suppl 2):S21-7. doi: 10.1007/BF02143798. Eur J Pediatr. 1995. PMID: 7671959

10

A prevalent mutation for galactosemia among black Americans.

Lai K, Langley SD, Singh RH, Dembure PP, Hjelm LN, Elsas LJ 2nd. Lai K, et al. Among authors: hjelm ln. J Pediatr. 1996 Jan;128(1):89-95. doi: 10.1016/s0022-3476(96)70432-8. J Pediatr. 1996. PMID: 8551426

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