Kruckeberg KE - Search Results

1

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.

Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. Nagan N, et al. Among authors: kruckeberg ke. Mol Genet Metab. 2003 Apr;78(4):239-46. doi: 10.1016/s1096-7192(03)00034-9. Mol Genet Metab. 2003. PMID: 12706374

2

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.

Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN. Snow K, et al. Among authors: kruckeberg ke. Hum Mol Genet. 1994 Sep;3(9):1543-51. doi: 10.1093/hmg/3.9.1543. Hum Mol Genet. 1994. PMID: 7833909

3

Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].

Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T. Nguyen TT, et al. Among authors: kruckeberg ke. J Clin Endocrinol Metab. 2000 Nov;85(11):4354-8. doi: 10.1210/jcem.85.11.6981. J Clin Endocrinol Metab. 2000. PMID: 11095479

4

Prevalence and clinical significance of HFE gene mutations in patients with iron overload.

Brandhagen DJ, Fairbanks VF, Baldus WP, Smith CI, Kruckeberg KE, Schaid DJ, Thibodeau SN. Brandhagen DJ, et al. Among authors: kruckeberg ke. Am J Gastroenterol. 2000 Oct;95(10):2910-4. doi: 10.1111/j.1572-0241.2000.03203.x. Am J Gastroenterol. 2000. PMID: 11051367

5

Iron overload in cirrhosis-HFE genotypes and outcome after liver transplantation.

Brandhagen DJ, Alvarez W, Therneau TM, Kruckeberg KE, Thibodeau SN, Ludwig J, Porayko MK. Brandhagen DJ, et al. Among authors: kruckeberg ke. Hepatology. 2000 Feb;31(2):456-60. doi: 10.1002/hep.510310227. Hepatology. 2000. PMID: 10655270

6

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.

Klein CJ, Wu Y, Kruckeberg KE, Hebbring SJ, Anderson SA, Cunningham JM, Dyck PJ, Klein DM, Thibodeau SN, Dyck PJ. Klein CJ, et al. Among authors: kruckeberg ke. J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1022-4. doi: 10.1136/jnnp.2004.050062. J Neurol Neurosurg Psychiatry. 2005. PMID: 15965219 Free PMC article.

7

Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods.

Baudhuin LM, Mai M, French AJ, Kruckeberg KE, Swanson RL, Winters JL, Courteau LK, Thibodeau SN. Baudhuin LM, et al. Among authors: kruckeberg ke. J Mol Diagn. 2005 May;7(2):226-35. doi: 10.1016/S1525-1578(10)60549-1. J Mol Diagn. 2005. PMID: 15858146 Free PMC article.

8

Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2.

Kruckeberg KE, Thibodeau SN. Kruckeberg KE, et al. Clin Chem. 2004 Mar;50(3):522-9. doi: 10.1373/clinchem.2003.027128. Epub 2004 Jan 12. Clin Chem. 2004. PMID: 14718397

9

Substitution of 3'-phosphate cap with a carbon-based blocker reduces the possibility of fluorescence resonance energy transfer probe failure in real-time PCR assays.

Cradic KW, Wells JE, Allen L, Kruckeberg KE, Singh RJ, Grebe SK. Cradic KW, et al. Among authors: kruckeberg ke. Clin Chem. 2004 Jun;50(6):1080-2. doi: 10.1373/clinchem.2004.033183. Clin Chem. 2004. PMID: 15161729 No abstract available.

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