Szigeti K - Search Results

1

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.

Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Yatsenko SA, et al. Among authors: szigeti k. Clin Genet. 2004 Aug;66(2):128-36. doi: 10.1111/j.1399-0004.2004.00290.x. Clin Genet. 2004. PMID: 15253763

2

The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.

Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K, Lupski JR. Stankiewicz P, et al. Among authors: szigeti k. Cytogenet Genome Res. 2003;101(2):118-23. doi: 10.1159/000074166. Cytogenet Genome Res. 2003. PMID: 14610351

3

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.

Szigeti K, Garcia CA, Lupski JR. Szigeti K, et al. Genet Med. 2006 Feb;8(2):86-92. doi: 10.1097/01.gim.0000200160.29385.73. Genet Med. 2006. PMID: 16481890 Free article.

4

Charcot-Marie-Tooth disease.

Szigeti K, Lupski JR. Szigeti K, et al. Eur J Hum Genet. 2009 Jun;17(6):703-10. doi: 10.1038/ejhg.2009.31. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277060 Free PMC article.

5

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. Szigeti K, et al. J Med Genet. 2004 Feb;41(2):125-9. doi: 10.1136/jmg.2003.013789. J Med Genet. 2004. PMID: 14757860 Free PMC article.

6

Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.

Szigeti K, Nelis E, Lupski JR. Szigeti K, et al. Neuromolecular Med. 2006;8(1-2):243-54. doi: 10.1385/nmm:8:1-2:243. Neuromolecular Med. 2006. PMID: 16775379 Review.

7

Olfactory copy number association with age at onset of Alzheimer disease.

Shaw CA, Li Y, Wiszniewska J, Chasse S, Zaidi SN, Jin W, Dawson B, Wilhelmsen K, Lupski JR, Belmont JW, Doody RS, Szigeti K. Shaw CA, et al. Among authors: szigeti k. Neurology. 2011 Apr 12;76(15):1302-9. doi: 10.1212/WNL.0b013e3182166df5. Neurology. 2011. PMID: 21482944 Free PMC article.

8

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.

Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Szigeti K, et al. Ann Neurol. 2003 Sep;54(3):398-402. doi: 10.1002/ana.10681. Ann Neurol. 2003. PMID: 12953275

9

Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.

Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Saifi GM, et al. Among authors: szigeti k. J Investig Med. 2003 Sep;51(5):261-83. doi: 10.1136/jim-51-05-14. J Investig Med. 2003. PMID: 14577517 Review.

10

Increased blood-brain barrier permeability with thymidine phosphorylase deficiency.

Szigeti K, Sule N, Adesina AM, Armstrong DL, Saifi GM, Bonilla E, Hirano M, Lupski JR. Szigeti K, et al. Ann Neurol. 2004 Dec;56(6):881-6. doi: 10.1002/ana.20302. Ann Neurol. 2004. PMID: 15562405

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