Turnpenny P - Search Results

1

Ascertainment of myotonic dystrophy through cataract by selective screening.

Kidd A, Turnpenny P, Kelly K, Clark C, Church W, Hutchinson C, Dean JC, Haites NE. Kidd A, et al. Among authors: turnpenny p. J Med Genet. 1995 Jul;32(7):519-23. doi: 10.1136/jmg.32.7.519. J Med Genet. 1995. PMID: 7562963 Free PMC article.

2

Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity.

Turnpenny PD, Johnston AW, Dean JC, Haites NE, Couzin DA, Stephen GS. Turnpenny PD, et al. Clin Dysmorphol. 1992 Apr;1(2):103-9. Clin Dysmorphol. 1992. PMID: 1345512 Review.

3

Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

Turnpenny PD, Dean JC, Duffty P, Reid JA, Carter P. Turnpenny PD, et al. J Med Genet. 1992 Sep;29(9):659-62. doi: 10.1136/jmg.29.9.659. J Med Genet. 1992. PMID: 1404297 Free PMC article.

4

Recurrent miscarriage, cystic hygroma and incontinentia pigmenti.

Turnpenny PD, Gunasegaran R, Smith NC, Dean JC. Turnpenny PD, et al. Br J Obstet Gynaecol. 1992 Nov;99(11):920-1. doi: 10.1111/j.1471-0528.1992.tb14443.x. Br J Obstet Gynaecol. 1992. PMID: 1450144 No abstract available.

5

Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Turnpenny PD, Dean JC, Auchterlonie IA, Johnston AW. Turnpenny PD, et al. J Med Genet. 1992 Jun;29(6):428-9. doi: 10.1136/jmg.29.6.428. J Med Genet. 1992. PMID: 1619641 Free PMC article.

6

Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification.

Turnpenny P, Clark C, Kelly K. Turnpenny P, et al. J Med Genet. 1994 Apr;31(4):300-5. doi: 10.1136/jmg.31.4.300. J Med Genet. 1994. PMID: 8071955 Free PMC article.

7

The diagnosis of myotonic dystrophy.

Turnpenny PD, Kelly KF. Turnpenny PD, et al. Scott Med J. 1993 Apr;38(2):35-6. doi: 10.1177/003693309303800201. Scott Med J. 1993. PMID: 8502974 No abstract available.

8

A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?

Turnpenny PD, De Silva DC, Gregory DW, Gray ES, Dean JC. Turnpenny PD, et al. Clin Dysmorphol. 1995 Oct;4(4):324-33. doi: 10.1097/00019605-199510000-00008. Clin Dysmorphol. 1995. PMID: 8574423

9

Identification of women at high genetic risk of breast cancer through the National Health Service Breast Screening Programme (NHSBSP).

de Silva D, Gilbert F, Needham G, Deans H, Turnpenny P, Haites N. de Silva D, et al. Among authors: turnpenny p. J Med Genet. 1995 Nov;32(11):862-6. doi: 10.1136/jmg.32.11.862. J Med Genet. 1995. PMID: 8592328 Free PMC article.

10

Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene.

Dean JC, Moore SJ, Osborne A, Howe J, Turnpenny PD. Dean JC, et al. Among authors: turnpenny pd. Clin Genet. 1999 Sep;56(3):216-20. doi: 10.1034/j.1399-0004.1999.560306.x. Clin Genet. 1999. PMID: 10563481

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