Upadhyaya M - Search Results

1

Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.

Ruggieri M, D'Arrigo G, Abbate M, Distefano A, Upadhyaya M. Ruggieri M, et al. Among authors: upadhyaya m. Eur J Pediatr. 2000 Jul;159(7):477-80. doi: 10.1007/s004310051313. Eur J Pediatr. 2000. PMID: 10923217

2

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN. Upadhyaya M, et al. Hum Mutat. 2004 Feb;23(2):134-146. doi: 10.1002/humu.10305. Hum Mutat. 2004. PMID: 14722917

3

A search for evidence of somatic mutations in the NF1 gene.

John AM, Ruggieri M, Ferner R, Upadhyaya M. John AM, et al. Among authors: upadhyaya m. J Med Genet. 2000 Jan;37(1):44-9. doi: 10.1136/jmg.37.1.44. J Med Genet. 2000. PMID: 10633134 Free PMC article.

4

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BA, Krawczak M, Cooper DN. Upadhyaya M, et al. Hum Genet. 1998 May;102(5):591-7. doi: 10.1007/s004390050746. Hum Genet. 1998. PMID: 9654211

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. Hum Mutat. 2008 Jan;29(1):74-82. doi: 10.1002/humu.20601. Hum Mutat. 2008. PMID: 17960768

6

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.

7

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.

8

A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.

Oktenli C, Saglam M, Demirbas S, Thompson P, Upadhyaya M, Consoli C, Ulucan H, Koz C, Durukan AH, Bozkurt A, Koc B, Kocar IH, Gul D. Oktenli C, et al. Among authors: upadhyaya m. Clin Dysmorphol. 2003 Jul;12(3):199-201. doi: 10.1097/01.mcd.0000077565.66911.43. Clin Dysmorphol. 2003. PMID: 14564162

9

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Laycock-van Spyk S, Thomas N, Cooper DN, Upadhyaya M. Laycock-van Spyk S, et al. Among authors: upadhyaya m. Hum Genomics. 2011 Oct;5(6):623-90. doi: 10.1186/1479-7364-5-6-623. Hum Genomics. 2011. PMID: 22155606 Free PMC article. Review.

10

Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report.

Stewart H, Bowker C, Edees S, Smalley S, Crocker M, Mechan D, Forrester N, Spurlock G, Upadhyaya M. Stewart H, et al. Among authors: upadhyaya m. Am J Med Genet A. 2008 Jun 1;146A(11):1444-52. doi: 10.1002/ajmg.a.32305. Am J Med Genet A. 2008. PMID: 18438896

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