Pesquisa | BVS Violência e Saúde

1.

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

Rinne, Tuula; Clements, Suzanne E; Lamme, Evert; Duijf, Pascal H G; Bolat, Emine; Meijer, Rowdy; Scheffer, Hans; Rosser, Elisabeth; Tan, Tiong Yang; McGrath, John A; Schalkwijk, Joost; Brunner, Han G; Zhou, Huiqing; van Bokhoven, Hans.

Hum Mol Genet ; 17(13): 1968-77, 2008 Jul 01.

Artigo em Inglês | MEDLINE | ID: mdl-18364388

2.

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

Lai-Cheong, Joey E; Parsons, Maddy; Tanaka, Akio; Ussar, Siegfried; South, Andrew P; Gomathy, Sethuraman; Mee, John B; Barbaroux, Jean-Baptiste; Techanukul, Tanasit; Almaani, Noor; Clements, Suzanne E; Hart, Ian R; McGrath, John A.

Am J Pathol ; 175(4): 1431-41, 2009 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-19762710

3.

The molecular skin pathology of familial primary localized cutaneous amyloidosis.

Tanaka, Akio; Lai-Cheong, Joey E; van den Akker, Peter C; Nagy, Nikoletta; Millington, George; Diercks, Gilles F H; van Voorst Vader, Pieter C; Clements, Suzanne E; Almaani, Noor; Techanukul, Tanasit; Hide, Michihiro; South, Andrew P; McGrath, John A.

Exp Dermatol ; 19(5): 416-23, 2010 May.

Artigo em Inglês | MEDLINE | ID: mdl-20507362

4.

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

Wright, J Timothy; Morris, Clark; Clements, Suzanne E; D'Souza, Rena; Gaide, Olivier; Mikkola, Marja; Zonana, Jonathan.

Am J Med Genet A ; 149A(9): 2062-7, 2009 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-19681147

5.

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

Fete, Mary; vanBokhoven, Hans; Clements, Suzanne E; McKeon, Frank; Roop, Dennis R; Koster, Maranke I; Missero, Caterina; Attardi, Laura D; Lombillo, Vivian A; Ratovitski, Edward; Julapalli, Meena; Ruths, Derek; Sybert, Virginia P; Siegfried, Elaine C; Bree, Alanna F.

Am J Med Genet A ; 149A(9): 1885-93, 2009 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-19353643

6.

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

Clements, Suzanne E; Wessagowit, Vesarat; Lai-Cheong, Joey E; Arita, Ken; McGrath, John A.

J Dermatol Sci ; 49(1): 39-42, 2008 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-17951029

7.

Importance of PORCN and Wnt signaling pathways in embryogenesis.

Clements, Suzanne E.

Am J Med Genet A ; 149A(9): 2050-1, 2009 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-19681149

8.

Modern management of psoriasis.

Ghaffar, Sharizan Abdul; Clements, Suzanne E; Griffiths, Christopher E M.

Clin Med (Lond) ; 5(6): 564-8, 2005.

Artigo em Inglês | MEDLINE | ID: mdl-16411352

9.

Skin signs of internal disease.

Abdul Ghaffar, Sharizan; Clements, Suzanne E; Yell, Jennifer.

Practitioner ; 249(1671): 434, 436, 438 passim, 2005 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-15966277

10.

Revertant mosaicism in recessive dystrophic epidermolysis bullosa.

Almaani, Noor; Nagy, Nikoletta; Liu, Lu; Dopping-Hepenstal, Patricia J C; Lai-Cheong, Joey E; Clements, Suzanne E; Techanukul, Tanasit; Tanaka, Akio; Mellerio, Jemima E; McGrath, John A.

J Invest Dermatol ; 130(7): 1937-40, 2010 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-20357813

11.

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

Clements, Suzanne E; McGrath, John A.

Arch Dermatol ; 144(3): 387-8, 2008 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-18347296

12.

Biological therapy for psoriasis.

Clements, Suzanne E; Abdul-Ghaffar, Sharizan; Griffiths, Christopher E M.

Br J Hosp Med (Lond) ; 67(4): 184-7, 2006 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-16681304

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