Slaney SF - Search Results

1

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.

Slaney SF, Chalmers IJ, Affara NA, Chitty LS. Slaney SF, et al. J Med Genet. 1998 Jan;35(1):17-22. doi: 10.1136/jmg.35.1.17. J Med Genet. 1998. PMID: 9475089 Free PMC article. Review.

2

Acromelic frontonasal dysostosis.

Slaney SF, Goodman FR, Eilers-Walsman BL, Hall BD, Williams DK, Young ID, Hayward RD, Jones BM, Christianson AL, Winter RM. Slaney SF, et al. Am J Med Genet. 1999 Mar 12;83(2):109-16. Am J Med Genet. 1999. PMID: 10190481 Review.

3

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

Morris AA, Sequeira JS, Malone M, Slaney SF, Clayton PT. Morris AA, et al. Among authors: slaney sf. J Med Genet. 1997 Oct;34(10):852-3. doi: 10.1136/jmg.34.10.852. J Med Genet. 1997. PMID: 9350821 Free PMC article.

4

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

Lindsay S, Ireland M, O'Brien O, Clayton-Smith J, Hurst JA, Mann J, Cole T, Sampson J, Slaney S, Schlessinger D, Burn J, Pilia G. Lindsay S, et al. J Med Genet. 1997 Jun;34(6):480-3. doi: 10.1136/jmg.34.6.480. J Med Genet. 1997. PMID: 9192268 Free PMC article.

5

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al. Rutland P, et al. Among authors: slaney sf. Nat Genet. 1995 Feb;9(2):173-6. doi: 10.1038/ng0295-173. Nat Genet. 1995. PMID: 7719345

6

MURCS in a male?

Wellesley DG, Slaney SF. Wellesley DG, et al. Among authors: slaney sf. J Med Genet. 1995 Apr;32(4):314-5. doi: 10.1136/jmg.32.4.314. J Med Genet. 1995. PMID: 7643366 Free PMC article.

7

Mesomelic limb shortness: a previously unreported autosomal recessive type.

Reardon W, Hall CM, Slaney S, Huson SM, Connell J, al-Hilaly N, Fixsen J, Baraitser M, Winter RM. Reardon W, et al. Am J Med Genet. 1993 Oct 1;47(5):788-92. doi: 10.1002/ajmg.1320470537. Am J Med Genet. 1993. PMID: 8267013

8

Another case of the autosomal recessive Weaver-like syndrome.

Slaney SF, Winter RM. Slaney SF, et al. Am J Med Genet. 1997 Oct 31;72(3):369-70. Am J Med Genet. 1997. PMID: 9332672 No abstract available.

9

Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

Woods CG, Bankier A, Curry J, Sheffield LJ, Slaney SF, Smith K, Voullaire L, Wellesley D. Woods CG, et al. Among authors: slaney sf. J Med Genet. 1994 Sep;31(9):694-701. doi: 10.1136/jmg.31.9.694. J Med Genet. 1994. PMID: 7815438 Free PMC article.

10

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, Wilkie AO. Slaney SF, et al. Am J Hum Genet. 1996 May;58(5):923-32. Am J Hum Genet. 1996. PMID: 8651276 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

24 results

Search Page

Filters