Clements SE - Search Results

1

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA. Clements SE, et al. Br J Dermatol. 2010 Sep;163(3):624-9. doi: 10.1111/j.1365-2133.2010.09859.x. Br J Dermatol. 2010. PMID: 20491771 Review.

2

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

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

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

5

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.

6

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

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

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

9

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.

El-Kamah GY, Fong K, El-Ruby M, Afifi HH, Clements SE, Lai-Cheong JE, Amr K, El-Darouti M, McGrath JA. El-Kamah GY, et al. Among authors: clements se. Br J Dermatol. 2010 Jul;163(1):213-5. doi: 10.1111/j.1365-2133.2010.09769.x. Epub 2010 Mar 17. Br J Dermatol. 2010. PMID: 20331448 No abstract available.

10

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H. Rinne T, et al. Among authors: clements se. Hum Mol Genet. 2008 Jul 1;17(13):1968-77. doi: 10.1093/hmg/ddn094. Epub 2008 Mar 25. Hum Mol Genet. 2008. PMID: 18364388

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