Taylor P - Search Results

1

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP. Elliott DA, et al. Among authors: taylor p. J Am Coll Cardiol. 2003 Jun 4;41(11):2072-6. doi: 10.1016/s0735-1097(03)00420-0. J Am Coll Cardiol. 2003. PMID: 12798584 Free article.

2

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Roscioli T, et al. Among authors: taylor pj. Nat Genet. 2006 Jun;38(6):620-2. doi: 10.1038/ng1780. Epub 2006 Apr 30. Nat Genet. 2006. PMID: 16648851 Free article.

3

A novel syndrome of episodic muscle weakness maps to xp22.3.

Ryan MM, Taylor P, Donald JA, Ouvrier RA, Morgan G, Danta G, Buckley MF, North KN. Ryan MM, et al. Among authors: taylor p. Am J Hum Genet. 1999 Oct;65(4):1104-13. doi: 10.1086/302588. Am J Hum Genet. 1999. PMID: 10486330 Free PMC article.

4

The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.

Cliffe ST, Wong M, Taylor PJ, Ruga E, Wilcken B, Lindeman R, Buckley MF, Roscioli T. Cliffe ST, et al. Prenat Diagn. 2007 Jul;27(7):674-6. doi: 10.1002/pd.1759. Prenat Diagn. 2007. PMID: 17510920

5

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

Palmer E, Speirs H, Taylor PJ, Mullan G, Turner G, Einfeld S, Tonge B, Mowat D. Palmer E, et al. Am J Med Genet A. 2014 Feb;164A(2):377-85. doi: 10.1002/ajmg.a.36279. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311194

6

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

Chopra M, Lawson JA, Wilson M, Kennedy SE, Taylor P, Buckley MF, Wargon O, Parasivam G, Camphausen C, Yates D, Mowat D. Chopra M, et al. Among authors: taylor p. J Paediatr Child Health. 2011 Oct;47(10):711-6. doi: 10.1111/j.1440-1754.2011.02038.x. Epub 2011 Mar 30. J Paediatr Child Health. 2011. PMID: 21449900

7

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF. Taylor PJ, et al. J Med Genet. 2007 Jun;44(6):368-72. doi: 10.1136/jmg.2006.047464. Epub 2007 Jan 26. J Med Genet. 2007. PMID: 17259292 Free PMC article.

8

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

Roscioli T, Taylor PJ, Bohlken A, Donald JA, Masel J, Glass IA, Buckley MF. Roscioli T, et al. Am J Med Genet A. 2004 Jan 15;124A(2):136-41. doi: 10.1002/ajmg.a.20348. Am J Med Genet A. 2004. PMID: 14699611

9

The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data.

Bahar AY, Taylor PJ, Andrews L, Proos A, Burnett L, Tucker K, Friedlander M, Buckley MF. Bahar AY, et al. Among authors: taylor pj. Cancer. 2001 Jul 15;92(2):440-5. doi: 10.1002/1097-0142(20010715)92:2<440::aid-cncr1340>3.0.co;2-o. Cancer. 2001. PMID: 11466700

10

In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy.

Ladwig D, Mowat D, Tobias V, Taylor PJ, Buckley MF, McNally G, Challis D. Ladwig D, et al. Aust N Z J Obstet Gynaecol. 2002 Feb;42(1):79-82. doi: 10.1111/j.0004-8666.2002.00085.x. Aust N Z J Obstet Gynaecol. 2002. PMID: 11926646 No abstract available.

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