Kirk EP - Search Results

1

Kousseff syndrome: a causally heterogeneous disorder.

Maclean K, Field MJ, Colley AS, Mowat DR, Sparrow DB, Dunwoodie SL, Kirk EP. Maclean K, et al. Among authors: kirk ep. Am J Med Genet A. 2004 Jan 30;124A(3):307-12. doi: 10.1002/ajmg.a.20418. Am J Med Genet A. 2004. PMID: 14708106

2

Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?

Kirk EP, Arbuckle S, Ramm PL, Adès LC. Kirk EP, et al. Am J Med Genet. 1999 May 21;84(2):120-4. Am J Med Genet. 1999. PMID: 10323736

3

Germline mutation of the tumour suppressor PTEN in Proteus syndrome.

Smith JM, Kirk EP, Theodosopoulos G, Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ. Smith JM, et al. Among authors: kirk ep. J Med Genet. 2002 Dec;39(12):937-40. doi: 10.1136/jmg.39.12.937. J Med Genet. 2002. PMID: 12471211 Free PMC article. No abstract available.

4

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

Clarke NF, Andrews I, Carpenter K, Jakobs C, van der Knaap MS, Kirk EP. Clarke NF, et al. Among authors: kirk ep. Am J Med Genet A. 2003 Aug 1;120A(4):523-7. doi: 10.1002/ajmg.a.20120. Am J Med Genet A. 2003. PMID: 12884432

5

Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Maclean K, Rasiah VS, Kirk EP, Carpenter K, Cooper S, Lui K, Oei J. Maclean K, et al. Among authors: kirk ep. Acta Paediatr. 2005 Jan;94(1):114-6. doi: 10.1111/j.1651-2227.2005.tb01797.x. Acta Paediatr. 2005. PMID: 15858970

6

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C. Kirk EP, et al. Clin Genet. 2009 Mar;75(3):301-3. doi: 10.1111/j.1399-0004.2008.01102.x. Epub 2008 Nov 1. Clin Genet. 2009. PMID: 19018795 No abstract available.

7

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: kirk ep. 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

8

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

Blue GM, Kirk EP, Giannoulatou E, Dunwoodie SL, Ho JW, Hilton DC, White SM, Sholler GF, Harvey RP, Winlaw DS. Blue GM, et al. Among authors: kirk ep. J Am Coll Cardiol. 2014 Dec 16;64(23):2498-506. doi: 10.1016/j.jacc.2014.09.048. J Am Coll Cardiol. 2014. PMID: 25500235 Free article.

9

The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.

Blue GM, Humphreys D, Szot J, Major J, Chapman G, Bosman A, Kirk EP, Sholler GF, Harvey RP, Dunwoodie SL, Winlaw DS. Blue GM, et al. Among authors: kirk ep. Int J Cardiol. 2017 Mar 1;230:155-163. doi: 10.1016/j.ijcard.2016.12.024. Epub 2016 Dec 13. Int J Cardiol. 2017. PMID: 27989580

10

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

Blue GM, Kirk EP, Giannoulatou E, Sholler GF, Dunwoodie SL, Harvey RP, Winlaw DS. Blue GM, et al. Among authors: kirk ep. J Am Coll Cardiol. 2017 Feb 21;69(7):859-870. doi: 10.1016/j.jacc.2016.11.060. J Am Coll Cardiol. 2017. PMID: 28209227 Free article. Review.

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