Clements SE - Search Results

1

Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II).

Wright JT, Morris C, Clements SE, D'Souza R, Gaide O, Mikkola M, Zonana J. Wright JT, et al. Among authors: clements se. Am J Med Genet A. 2009 Sep;149A(9):2062-7. doi: 10.1002/ajmg.a.32869. Am J Med Genet A. 2009. PMID: 19681147

2

International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.

Fete M, vanBokhoven H, Clements SE, McKeon F, Roop DR, Koster MI, Missero C, Attardi LD, Lombillo VA, Ratovitski E, Julapalli M, Ruths D, Sybert VP, Siegfried EC, Bree AF. Fete M, et al. Among authors: clements se. Am J Med Genet A. 2009 Sep;149A(9):1885-93. doi: 10.1002/ajmg.a.32761. Am J Med Genet A. 2009. PMID: 19353643 Free PMC article.

3

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

Clements SE, Techanukul T, Coman D, Mellerio JE, McGrath JA. Clements SE, et al. Br J Dermatol. 2010 Jan;162(1):201-7. doi: 10.1111/j.1365-2133.2009.09496.x. Epub 2009 Nov 9. Br J Dermatol. 2010. PMID: 19903181

4

Importance of PORCN and Wnt signaling pathways in embryogenesis.

Clements SE. Clements SE. Am J Med Genet A. 2009 Sep;149A(9):2050-1. doi: 10.1002/ajmg.a.32887. Am J Med Genet A. 2009. PMID: 19681149 No abstract available.

5

PORCN gene mutations and the protean nature of focal dermal hypoplasia.

Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA. Clements SE, et al. Br J Dermatol. 2009 May;160(5):1103-9. doi: 10.1111/j.1365-2133.2009.09048.x. Epub 2009 Mar 9. Br J Dermatol. 2009. PMID: 19292719

6

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.

Clements SE, Techanukul T, Lai-Cheong JE, Mee JB, South AP, Pourreyron C, Burrows NP, Mellerio JE, McGrath JA. Clements SE, et al. Br J Dermatol. 2012 Jul;167(1):134-44. doi: 10.1111/j.1365-2133.2012.10888.x. Epub 2012 May 14. Br J Dermatol. 2012. PMID: 22329826

7

Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.

Lai-Cheong JE, Parsons M, Tanaka A, Ussar S, South AP, Gomathy S, Mee JB, Barbaroux JB, Techanukul T, Almaani N, Clements SE, Hart IR, McGrath JA. Lai-Cheong JE, et al. Among authors: clements se. Am J Pathol. 2009 Oct;175(4):1431-41. doi: 10.2353/ajpath.2009.081154. Epub 2009 Sep 17. Am J Pathol. 2009. PMID: 19762710 Free PMC article.

8

The molecular skin pathology of familial primary localized cutaneous amyloidosis.

Tanaka A, Lai-Cheong JE, van den Akker PC, Nagy N, Millington G, Diercks GF, van Voorst Vader PC, Clements SE, Almaani N, Techanukul T, Hide M, South AP, McGrath JA. Tanaka A, et al. Among authors: clements se. Exp Dermatol. 2010 May;19(5):416-23. doi: 10.1111/j.1600-0625.2010.01083.x. Exp Dermatol. 2010. PMID: 20507362

9

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA. Clements SE, et al. J Dermatol Sci. 2008 Jan;49(1):39-42. doi: 10.1016/j.jdermsci.2007.09.004. Epub 2007 Oct 24. J Dermatol Sci. 2008. PMID: 17951029

10

Molecular genetics as a diagnostic and prognostic aid in the assessment of neonates with red, scaly genodermatoses: work still in progress.

Clements SE, McGrath JA. Clements SE, et al. Arch Dermatol. 2008 Mar;144(3):387-8. doi: 10.1001/archderm.144.3.387. Arch Dermatol. 2008. PMID: 18347296 No abstract available.

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