P01 HD38420/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2002	2
2003	1
2004	1
2005	3
2006	3
2007	1
2024	0

1

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR. Kurotaki N, et al. Hum Mol Genet. 2005 Feb 15;14(4):535-42. doi: 10.1093/hmg/ddi050. Epub 2005 Jan 7. Hum Mol Genet. 2005. PMID: 15640245

2

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Lee JA, et al. Hum Mol Genet. 2006 Jul 15;15(14):2250-65. doi: 10.1093/hmg/ddl150. Epub 2006 Jun 14. Hum Mol Genet. 2006. PMID: 16774974

3

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Bi W, et al. Genome Res. 2002 May;12(5):713-28. doi: 10.1101/gr.73702. Genome Res. 2002. PMID: 11997338 Free PMC article.

4

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.

Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. Kurotaki N, et al. Genet Med. 2005 Sep;7(7):479-83. doi: 10.1097/01.gim.0000177419.43309.37. Genet Med. 2005. PMID: 16170239

5

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. Bi W, et al. Am J Hum Genet. 2003 Dec;73(6):1302-15. doi: 10.1086/379979. Epub 2003 Nov 24. Am J Hum Genet. 2003. PMID: 14639526 Free PMC article.

6

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. Bi W, et al. Am J Med Genet A. 2006 Nov 15;140(22):2454-63. doi: 10.1002/ajmg.a.31510. Am J Med Genet A. 2006. PMID: 17041942

7

Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.

Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Lee JA, et al. Prenat Diagn. 2005 Dec;25(13):1188-91. doi: 10.1002/pd.1308. Prenat Diagn. 2005. PMID: 16353282

8

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K. Lee JA, et al. Ann Neurol. 2006 Feb;59(2):398-403. doi: 10.1002/ana.20732. Ann Neurol. 2006. PMID: 16374829

9

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.

Bien-Willner GA, Stankiewicz P, Lupski JR. Bien-Willner GA, et al. Hum Mol Genet. 2007 May 15;16(10):1143-56. doi: 10.1093/hmg/ddm061. Epub 2007 Apr 4. Hum Mol Genet. 2007. PMID: 17409199

10

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR. Bi W, et al. Hum Genet. 2004 Nov;115(6):515-24. doi: 10.1007/s00439-004-1187-6. Epub 2004 Sep 30. Hum Genet. 2004. PMID: 15565467

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