Harper PS - Search Results

1

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: harper ps. 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.

2

The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests.

MacMillan JC, Harper PS. MacMillan JC, et al. Among authors: harper ps. Clin Genet. 1992 Oct;42(4):161-3. doi: 10.1111/j.1399-0004.1992.tb03231.x. Clin Genet. 1992. PMID: 1424239

3

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. Among authors: harper ps. Am J Hum Genet. 1992 Aug;51(2):404-10. Am J Hum Genet. 1992. PMID: 1642238 Free PMC article.

4

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. Among authors: harper ps. 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.

5

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. Among authors: harper ps. Clin Genet. 1990 Jun;37(6):456-62. doi: 10.1111/j.1399-0004.1990.tb03530.x. Clin Genet. 1990. PMID: 2200624

6

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: harper ps. Am J Med Genet. 1990 Jan;35(1):132-5. doi: 10.1002/ajmg.1320350125. Am J Med Genet. 1990. PMID: 2301463

7

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

Fryer AE, Upadhyaya M, Littler M, Bacon P, Watkins D, Tsipouras P, Harper PS. Fryer AE, et al. Among authors: harper ps. J Med Genet. 1990 Feb;27(2):91-3. doi: 10.1136/jmg.27.2.91. J Med Genet. 1990. PMID: 2319589 Free PMC article.

8

Close flanking markers for neurofibromatosis type I (NF1).

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

9

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm.

Roberts SH, Upadhyaya M, Sarfarazi M, Harper PS. Roberts SH, et al. Among authors: harper ps. J Med Genet. 1989 May;26(5):309-13. doi: 10.1136/jmg.26.5.309. J Med Genet. 1989. PMID: 2499679 Free PMC article.

10

A genetic linkage study of facioscapulohumeral (Landouzy-Déjérine) disease with 24 polymorphic DNA probes.

Upadhyaya M, Sarfarazi M, Lunt PW, Broadhead W, Harper PS. Upadhyaya M, et al. Among authors: harper ps. J Med Genet. 1989 Aug;26(8):490-3. doi: 10.1136/jmg.26.8.490. J Med Genet. 1989. PMID: 2570156 Free PMC article.

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