Vlangos CN - Search Results

1

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.

Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH. Lucas RE, et al. Among authors: vlangos cn. Eur J Hum Genet. 2001 Dec;9(12):892-902. doi: 10.1038/sj.ejhg.5200734. Eur J Hum Genet. 2001. PMID: 11840190

2

Mutations in RAI1 associated with Smith-Magenis syndrome.

Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Slager RE, et al. Among authors: vlangos cn. Nat Genet. 2003 Apr;33(4):466-8. doi: 10.1038/ng1126. Epub 2003 Mar 24. Nat Genet. 2003. PMID: 12652298

3

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Vlangos CN, Yim DK, Elsea SH. Vlangos CN, et al. Mol Genet Metab. 2003 Jun;79(2):134-41. doi: 10.1016/s1096-7192(03)00048-9. Mol Genet Metab. 2003. PMID: 12809645

4

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH. Vlangos CN, et al. Am J Med Genet A. 2005 Jan 30;132A(3):278-82. doi: 10.1002/ajmg.a.30461. Am J Med Genet A. 2005. PMID: 15690371

5

Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.

Vlangos CN, Das P, Patel PI, Elsea SH. Vlangos CN, et al. Cytogenet Cell Genet. 2000;88(3-4):283-5. doi: 10.1159/000015539. Cytogenet Cell Genet. 2000. PMID: 10828610 No abstract available.

6

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. Girirajan S, et al. Among authors: vlangos cn. Genet Med. 2006 Jul;8(7):417-27. doi: 10.1097/01.gim.0000228215.32110.89. Genet Med. 2006. PMID: 16845274 Free article.

7

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH. Girirajan S, et al. Among authors: vlangos cn. Am J Med Genet A. 2007 May 1;143A(9):999-1008. doi: 10.1002/ajmg.a.31689. Am J Med Genet A. 2007. PMID: 17431895

8

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, Blanchard CL, Elsea SH. Truong HT, et al. Among authors: vlangos cn. Genet Test. 2008 Mar;12(1):67-73. doi: 10.1089/gte.2007.0058. Genet Test. 2008. PMID: 18373405

9

Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.

Girirajan S, Hauck PM, Williams S, Vlangos CN, Szomju BB, Solaymani-Kohal S, Mosier PD, White KL Jr, McCoy K, Elsea SH. Girirajan S, et al. Among authors: vlangos cn. Mamm Genome. 2008 Apr;19(4):246-62. doi: 10.1007/s00335-008-9100-6. Epub 2008 Mar 15. Mamm Genome. 2008. PMID: 18343975

10

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F. Hinkes B, et al. Among authors: vlangos cn. Nat Genet. 2006 Dec;38(12):1397-405. doi: 10.1038/ng1918. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086182

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

29 results

Search Page