Harper PS - Search Results

1

Chorionic villus sampling for prenatal diagnosis in Wales using DNA probes--5 years' experience.

Upadhyaya M, Fryer A, Foat G, Robinson D, Quarrell O, Roberts A, Harper PS. Upadhyaya M, et al. Among authors: harper ps. Prenat Diagn. 1990 Sep;10(9):593-603. doi: 10.1002/pd.1970100908. Prenat Diagn. 1990. PMID: 2267238

2

Lack of sampling site variation in chorion villus biopsy as assessed by DNA, enzymatic, morphological and cytogenetical analyses.

Upadhyaya M, Jasani B, Little E, Harper PS, Rees D, Roberts A. Upadhyaya M, et al. Among authors: harper ps. Prenat Diagn. 1987 Feb;7(2):119-27. doi: 10.1002/pd.1970070208. Prenat Diagn. 1987. PMID: 3472193

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: 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.

4

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

Quarrell OW, Snell RG, Curtis MA, Roberts SH, Harper PS, Shaw DJ. Quarrell OW, et al. Among authors: harper ps. J Med Genet. 1991 Apr;28(4):256-9. doi: 10.1136/jmg.28.4.256. J Med Genet. 1991. PMID: 1856831 Free PMC article.

5

Exclusion testing in pregnancy for Huntington's disease.

Tyler A, Quarrell OW, Lazarou LP, Meredith AL, Harper PS. Tyler A, et al. Among authors: harper ps. J Med Genet. 1990 Aug;27(8):488-95. doi: 10.1136/jmg.27.8.488. J Med Genet. 1990. PMID: 2145437 Free PMC article.

6

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

7

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

8

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.

9

Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening.

Norman AM, Upadhyaya M, Thomas NS, Roberts K, Harper PS. Norman AM, et al. Among authors: harper ps. J Med Genet. 1989 Sep;26(9):565-71. doi: 10.1136/jmg.26.9.565. J Med Genet. 1989. PMID: 2810340 Free PMC article.

10

Molecular genetics in clinical practice: evolution of a DNA diagnostic service.

Meredith AL, Upadhyaya M, Harper PS. Meredith AL, et al. Among authors: harper ps. BMJ. 1988 Oct 1;297(6652):843-6. doi: 10.1136/bmj.297.6652.843. BMJ. 1988. PMID: 2972330 Free PMC article.

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