Upadhyaya M - Search Results

1

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.

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

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.

MacMillan JC, Upadhyaya M, Harper PS. MacMillan JC, et al. Among authors: upadhyaya m. J Med Genet. 1992 Jan;29(1):12-3. doi: 10.1136/jmg.29.1.12. J Med Genet. 1992. PMID: 1552536 Free PMC article.

4

The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).

Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper PS. Upadhyaya M, et al. Am J Hum Genet. 1992 Aug;51(2):404-10. Am J Hum Genet. 1992. PMID: 1642238 Free PMC article.

5

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.

6

A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.

Upadhyaya M, Lunt PW, Sarfarazi M, Broadhead W, Daniels J, Owen M, Harper PS. Upadhyaya M, et al. J Med Genet. 1991 Oct;28(10):665-71. doi: 10.1136/jmg.28.10.665. J Med Genet. 1991. PMID: 1941963 Free PMC article.

7

A HindIII polymorphism identified by a DNA clone which maps to chromosome 17 (D17S245).

Brook JD, Upadhyaya M, Broadhead W, Rundle SA, Walsh KV, Harley HG, Shaw DJ. Brook JD, et al. Among authors: upadhyaya m. Nucleic Acids Res. 1990 Feb 25;18(4):1085. Nucleic Acids Res. 1990. PMID: 1969143 Free PMC article.

8

DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease.

Upadhyaya M, Lunt PW, Sarfarazi M, Broadhead W, Daniels J, Owen M, Harper PS. Upadhyaya M, et al. Lancet. 1990 Nov 24;336(8726):1320-1. doi: 10.1016/0140-6736(90)93005-a. Lancet. 1990. PMID: 1978143 No abstract available.

9

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CG, Barker DF, Ponder BA. Jadayel D, et al. Among authors: upadhyaya m. Nature. 1990 Feb 8;343(6258):558-9. doi: 10.1038/343558a0. Nature. 1990. PMID: 2105472

10

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.

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