Chuzhanova N - Search Results

1

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. Spurlock G, et al. Among authors: chuzhanova n. J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474. Epub 2009 May 13. J Med Genet. 2009. PMID: 19443465

2

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Thomas L, Spurlock G, Eudall C, Thomas NS, Mort M, Hamby SE, Chuzhanova N, Brems H, Legius E, Cooper DN, Upadhyaya M. Thomas L, et al. Among authors: chuzhanova n. Eur J Hum Genet. 2012 Apr;20(4):411-9. doi: 10.1038/ejhg.2011.207. Epub 2011 Nov 23. Eur J Hum Genet. 2012. PMID: 22108604 Free PMC article.

3

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: chuzhanova n. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.

4

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

Upadhyaya M, Spurlock G, Kluwe L, Chuzhanova N, Bennett E, Thomas N, Guha A, Mautner V. Upadhyaya M, et al. Among authors: chuzhanova n. Neurogenetics. 2009 Jul;10(3):251-63. doi: 10.1007/s10048-009-0178-0. Epub 2009 Feb 17. Neurogenetics. 2009. PMID: 19221814

5

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, Ruggieri M, Chuzhanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V. Upadhyaya M, et al. Among authors: chuzhanova n. Hum Mutat. 2008 Jan;29(1):74-82. doi: 10.1002/humu.20601. Hum Mutat. 2008. PMID: 17960768

6

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M. Alkindy A, et al. Among authors: chuzhanova n. Hum Genomics. 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12. Hum Genomics. 2012. PMID: 23244495 Free PMC article.

7

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden.

Thomas L, Kluwe L, Chuzhanova N, Mautner V, Upadhyaya M. Thomas L, et al. Among authors: chuzhanova n. Neurogenetics. 2010 Oct;11(4):391-400. doi: 10.1007/s10048-010-0240-y. Epub 2010 Apr 1. Neurogenetics. 2010. PMID: 20358387

8

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.

Hamby SE, Reviriego P, Cooper DN, Upadhyaya M, Chuzhanova N. Hamby SE, et al. Among authors: chuzhanova n. Hum Genomics. 2013 Aug 15;7(1):18. doi: 10.1186/1479-7364-7-18. Hum Genomics. 2013. PMID: 23947441 Free PMC article.

9

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

Mantripragada KK, Spurlock G, Kluwe L, Chuzhanova N, Ferner RE, Frayling IM, Dumanski JP, Guha A, Mautner V, Upadhyaya M. Mantripragada KK, et al. Among authors: chuzhanova n. Clin Cancer Res. 2008 Feb 15;14(4):1015-24. doi: 10.1158/1078-0432.CCR-07-1305. Clin Cancer Res. 2008. PMID: 18281533

10

Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array.

Mantripragada KK, Díaz de Ståhl T, Patridge C, Menzel U, Andersson R, Chuzhanova N, Kluwe L, Guha A, Mautner V, Dumanski JP, Upadhyaya M. Mantripragada KK, et al. Among authors: chuzhanova n. Genes Chromosomes Cancer. 2009 Oct;48(10):897-907. doi: 10.1002/gcc.20695. Genes Chromosomes Cancer. 2009. PMID: 19603524

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