Maclean K - 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. 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

Breaking symmetry: a clinical overview of left-right patterning.

Maclean K, Dunwoodie SL. Maclean K, et al. Clin Genet. 2004 Jun;65(6):441-57. doi: 10.1111/j.0009-9163.2004.00258.x. Clin Genet. 2004. PMID: 15151499 Review.

3

Loss of Cited2 affects trophoblast formation and vascularization of the mouse placenta.

Withington SL, Scott AN, Saunders DN, Lopes Floro K, Preis JI, Michalicek J, Maclean K, Sparrow DB, Barbera JP, Dunwoodie SL. Withington SL, et al. Among authors: maclean k. Dev Biol. 2006 Jun 1;294(1):67-82. doi: 10.1016/j.ydbio.2006.02.025. Epub 2006 Mar 31. Dev Biol. 2006. PMID: 16579983 Free article.

4

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. Acta Paediatr. 2005 Jan;94(1):114-6. doi: 10.1111/j.1651-2227.2005.tb01797.x. Acta Paediatr. 2005. PMID: 15858970

5

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.

Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Adès LC. Maclean K, et al. Am J Med Genet A. 2005 Feb 1;132A(4):381-5. doi: 10.1002/ajmg.a.30274. Am J Med Genet A. 2005. PMID: 15654696 Review.

6

EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?

Maclean K, Holme SA, Gilmour E, Taylor M, Scheffer H, Graf N, Smith GH, Onikul E, van Bokhoven H, Moss C, Adès LC. Maclean K, et al. Am J Med Genet A. 2007 May 15;143A(10):1114-9. doi: 10.1002/ajmg.a.31664. Am J Med Genet A. 2007. PMID: 17431922

7

A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy.

Maclean K, Ambler G, Flaherty M, Kozlowski K, Adès LC. Maclean K, et al. Clin Dysmorphol. 2002 Oct;11(4):255-60. doi: 10.1097/00019605-200210000-00005. Clin Dysmorphol. 2002. PMID: 12401990

8

Splenic abscess in a patient with type 3 Gaucher's disease receiving enzyme replacement therapy.

Maclean K, Wilson MJ. Maclean K, et al. J Pediatr. 1999 Feb;134(2):245-7. doi: 10.1016/s0022-3476(99)70425-7. J Pediatr. 1999. PMID: 9931539

9

In vitro transformation of Li-Fraumeni syndrome fibroblasts by SV40 large T antigen mutants.

Maclean K, Rogan EM, Whitaker NJ, Chang AC, Rowe PB, Dalla-Pozza L, Symonds G, Reddel RR. Maclean K, et al. Oncogene. 1994 Mar;9(3):719-25. Oncogene. 1994. PMID: 8108114

10

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

Quintana AM, Geiger EA, Achilly N, Rosenblatt DS, Maclean KN, Stabler SP, Artinger KB, Appel B, Shaikh TH. Quintana AM, et al. Dev Biol. 2014 Dec 1;396(1):94-106. doi: 10.1016/j.ydbio.2014.09.026. Epub 2014 Oct 2. Dev Biol. 2014. PMID: 25281006 Free PMC article.

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