Vlangos CN - Search Results

1

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.

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

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

6

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

7

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.

8

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

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

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Kalia SS, et al. Among authors: vlangos cn. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Genet Med. 2017. PMID: 27854360 Free article.

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