Yan J - Search Results

1

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. Yan J, et al. Am J Med Genet A. 2006 Jul 15;140(14):1531-41. doi: 10.1002/ajmg.a.31305. Am J Med Genet A. 2006. PMID: 16770807

2

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.

Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. Yan J, et al. J Med Genet. 2009 Sep;46(9):626-34. doi: 10.1136/jmg.2008.062471. Epub 2008 Dec 3. J Med Genet. 2009. PMID: 19052029 Free PMC article.

3

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Boerkoel CF, et al. Among authors: yan j. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392

4

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.

Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR. Yan J, et al. Hum Mol Genet. 2004 Nov 1;13(21):2613-24. doi: 10.1093/hmg/ddh288. Epub 2004 Sep 30. Hum Mol Genet. 2004. PMID: 15459175

5

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.

Yan J, Bi W, Lupski JR. Yan J, et al. Am J Hum Genet. 2007 Mar;80(3):518-25. doi: 10.1086/512043. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273973 Free PMC article.

6

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.

Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR. Bi W, et al. Among authors: yan j. Hum Mol Genet. 2005 Apr 15;14(8):983-95. doi: 10.1093/hmg/ddi085. Epub 2005 Mar 3. Hum Mol Genet. 2005. PMID: 15746153

7

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Lu W, et al. Among authors: yan j. Am J Hum Genet. 2007 Apr;80(4):616-32. doi: 10.1086/512735. Epub 2007 Feb 14. Am J Hum Genet. 2007. PMID: 17357069 Free PMC article.

8

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.

Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR. Khajavi M, et al. Among authors: yan j. Am J Hum Genet. 2007 Sep;81(3):438-53. doi: 10.1086/519926. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701891 Free PMC article.

9

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR. Bi W, et al. Among authors: yan j. Hum Mol Genet. 2007 Aug 1;16(15):1802-13. doi: 10.1093/hmg/ddm128. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17517686

10

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.

Stankiewicz P, Inoue K, Bi W, Walz K, Park SS, Kurotaki N, Shaw CJ, Fonseca P, Yan J, Lee JA, Khajavi M, Lupski JR. Stankiewicz P, et al. Among authors: yan j. Cold Spring Harb Symp Quant Biol. 2003;68:445-54. doi: 10.1101/sqb.2003.68.445. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338647 Review. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

19,130 results

Search Page

Filters