HD94021/HD/NICHD NIH HHS/United States[Grant Number] - Search Results

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Year	Number of Results
1998	2
1999	2
2001	1
2002	1
2022	0

Page 1

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

Lupski JR. Lupski JR. Pediatr Res. 1999 Feb;45(2):159-65. doi: 10.1203/00006450-199902000-00001. Pediatr Res. 1999. PMID: 10022584 Review.

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.

Lupski JR. Lupski JR. Trends Genet. 1998 Oct;14(10):417-22. doi: 10.1016/s0168-9525(98)01555-8. Trends Genet. 1998. PMID: 9820031 Review.

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Warner LE, et al. Nat Genet. 1998 Apr;18(4):382-4. doi: 10.1038/ng0498-382. Nat Genet. 1998. PMID: 9537424

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Liburd N, et al. Hum Genet. 2001 Nov;109(5):535-41. doi: 10.1007/s004390100604. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735029

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

Warner LE, Svaren J, Milbrandt J, Lupski JR. Warner LE, et al. Hum Mol Genet. 1999 Jul;8(7):1245-51. doi: 10.1093/hmg/8.7.1245. Hum Mol Genet. 1999. PMID: 10369870

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. Smith AC, et al. Genet Med. 2002 May-Jun;4(3):118-25. doi: 10.1097/00125817-200205000-00004. Genet Med. 2002. PMID: 12180145 Free article.

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