Upadhyaya M - 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: upadhyaya m. 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

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

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.

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

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

8

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.

9

Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA.

Upadhyaya M, Smith RA, Thomas NS, Norman AM, Harper PS. Upadhyaya M, et al. Clin Genet. 1990 Jun;37(6):456-62. doi: 10.1111/j.1399-0004.1990.tb03530.x. Clin Genet. 1990. PMID: 2200624

10

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis.

Zonana J, Schinzel A, Upadhyaya M, Thomas NS, Anton-Lamprecht I, Harper PS. Zonana J, et al. Among authors: upadhyaya m. Am J Med Genet. 1990 Jan;35(1):132-5. doi: 10.1002/ajmg.1320350125. Am J Med Genet. 1990. PMID: 2301463

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