Upadhyaya M - Search Results

1

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. Rauen KA, et al. Among authors: upadhyaya m. Am J Med Genet A. 2019 Jun;179(6):1091-1097. doi: 10.1002/ajmg.a.61125. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908877 Free PMC article.

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

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.

5

Close flanking markers for neurofibromatosis type I (NF1).

Upadhyaya M, Sarfarazi M, Huson SM, Broadhead W, Fryer A, Harper PS. Upadhyaya M, et al. Am J Hum Genet. 1989 Jan;44(1):41-7. Am J Hum Genet. 1989. PMID: 2491781 Free PMC article.

6

Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population.

Upadhyaya M, Sarfarazi M, Huson SM, Stephens K, Broadhead W, Harper PS. Upadhyaya M, et al. Genomics. 1987 Dec;1(4):358-60. doi: 10.1016/0888-7543(87)90038-3. Genomics. 1987. PMID: 2896630

7

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.

8

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.

9

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

10

Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.

Faravelli F, Upadhyaya M, Osborn M, Huson SM, Hayward R, Winter R. Faravelli F, et al. Among authors: upadhyaya m. J Med Genet. 1999 Dec;36(12):893-6. J Med Genet. 1999. PMID: 10593996 Free PMC article.

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