Upadhyaya M - Search Results

1

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, Thakker N, Evans DG. Sharif S, et al. Among authors: upadhyaya m. J Med Genet. 2011 Apr;48(4):256-60. doi: 10.1136/jmg.2010.081760. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278392

2

Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

Upadhyaya M, Shen M, Cherryson A, Farnham J, Maynard J, Huson SM, Harper PS. Upadhyaya M, et al. Hum Mol Genet. 1992 Dec;1(9):735-40. doi: 10.1093/hmg/1.9.735. Hum Mol Genet. 1992. PMID: 1302608

3

Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.

Upadhyaya M, Fryer A, MacMillan J, Broadhead W, Huson SM, Harper PS. Upadhyaya M, et al. J Med Genet. 1992 Mar;29(3):180-3. doi: 10.1136/jmg.29.3.180. J Med Genet. 1992. PMID: 1348093 Free PMC article.

4

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS, et al. Allanson JE, et al. Among authors: upadhyaya m. J Med Genet. 1991 Nov;28(11):752-6. doi: 10.1136/jmg.28.11.752. J Med Genet. 1991. PMID: 1770531 Free PMC article.

5

A 90 kb DNA deletion associated with neurofibromatosis type 1.

Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D, et al. Upadhyaya M, et al. J Med Genet. 1990 Dec;27(12):738-41. doi: 10.1136/jmg.27.12.738. J Med Genet. 1990. PMID: 2127432 Free PMC article.

6

Further exclusion data for the Von Recklinghausen neurofibromatosis gene: a genetic linkage study of 19 polymorphic markers.

Upadhyaya M, Sarfarazi M, Huson SM, Harper PS. Upadhyaya M, et al. J Med Genet. 1987 Sep;24(9):534-6. doi: 10.1136/jmg.24.9.534. J Med Genet. 1987. PMID: 3118035 Free PMC article.

7

Two single base polymorphisms in introns 41 and 16 of the NF1 gene.

Shen MH, Upadhyaya M. Shen MH, et al. Among authors: upadhyaya m. Am J Med Genet. 1995 Apr 24;60(2):147-9. doi: 10.1002/ajmg.1320600211. Am J Med Genet. 1995. PMID: 7485249

8

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.

Upadhyaya M, Shaw DJ, Harper PS. Upadhyaya M, et al. Hum Mutat. 1994;4(2):83-101. doi: 10.1002/humu.1380040202. Hum Mutat. 1994. PMID: 7981724 Review.

9

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.

Shen MH, Upadhyaya M. Shen MH, et al. Among authors: upadhyaya m. Hum Genet. 1993 Oct;92(4):410-2. doi: 10.1007/BF01247346. Hum Genet. 1993. PMID: 8225323

10

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Upadhyaya M, Maynard J, Osborn M, Huson SM, Ponder M, Ponder BA, Harper PS. Upadhyaya M, et al. J Med Genet. 1995 Sep;32(9):706-10. doi: 10.1136/jmg.32.9.706. J Med Genet. 1995. PMID: 8544190 Free PMC article.

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