Colley A - Search Results

1

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. Among authors: colley a. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.

2

Unbalanced 13;18 translocation and Williams syndrome.

Colley A, Thakker Y, Ward H, Donnai D. Colley A, et al. J Med Genet. 1992 Jan;29(1):63-5. doi: 10.1136/jmg.29.1.63. J Med Genet. 1992. PMID: 1552549 Free PMC article.

3

An interstitial deletion of chromosome 7(q35).

Fagan K, Kennedy C, Roddick L, Colley A. Fagan K, et al. Among authors: colley a. J Med Genet. 1994 Sep;31(9):738-9. doi: 10.1136/jmg.31.9.738. J Med Genet. 1994. PMID: 7529320 Free PMC article.

4

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC. Gedeon AK, et al. Among authors: colley ac. J Med Genet. 1995 May;32(5):383-8. doi: 10.1136/jmg.32.5.383. J Med Genet. 1995. PMID: 7616547 Free PMC article.

5

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.

Colley A, Donnai D, Evans DG. Colley A, et al. Clin Genet. 1996 Feb;49(2):59-64. doi: 10.1111/j.1399-0004.1996.tb04328.x. Clin Genet. 1996. PMID: 8740913

6

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. Smith A, et al. Among authors: colley a. J Med Genet. 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107. J Med Genet. 1996. PMID: 8929945 Free PMC article. Review.

7

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?

Worthington S, Colley A, Fagan K, Dai K, Lipson AH. Worthington S, et al. Among authors: colley a. J Med Genet. 1997 Jan;34(1):79-82. doi: 10.1136/jmg.34.1.79. J Med Genet. 1997. PMID: 9032655 Free PMC article.

8

Gene localization for an autosomal dominant familial periodic fever to 12p13.

Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M. Mulley J, et al. Among authors: colley a. Am J Hum Genet. 1998 Apr;62(4):884-9. doi: 10.1086/301793. Am J Hum Genet. 1998. PMID: 9529351 Free PMC article.

9

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gécz J. Gedeon AK, et al. Among authors: colley a. Nat Genet. 1999 Aug;22(4):400-4. doi: 10.1038/11976. Nat Genet. 1999. PMID: 10431248

10

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF. Roscioli T, et al. Among authors: colley a. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11. Am J Med Genet C Semin Med Genet. 2013. PMID: 24127277

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