Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.

Han, Ji Hoon; Ryan, Gavin; Guy, Alyson; Liu, Lu; Quinodoz, Mathieu; Helbling, Ingrid; Lai-Cheong, Joey E; Barwell, Julian; Folcher, Marc; McGrath, John A; Moss, Celia; Rivolta, Carlo.

Hum Mol Genet ; 31(12): 1970-1978, 2022 06 22.

Artigo em Inglês | MEDLINE | ID: mdl-34999892

2.

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Tanaka, Akio; Weinel, Sarah; Nagy, Nikoletta; O'Driscoll, Mark; Lai-Cheong, Joey E; Kulp-Shorten, Carol L; Knable, Alfred; Carpenter, Gillian; Fisher, Sheila A; Hiragun, Makiko; Yanase, Yuhki; Hide, Michihiro; Callen, Jeffrey; McGrath, John A.

Am J Hum Genet ; 90(3): 511-7, 2012 Mar 09.

Artigo em Inglês | MEDLINE | ID: mdl-22341969

3.

Pathogenesis-based therapies in ichthyoses.

Lai-Cheong, Joey E; Elias, Peter M; Paller, Amy S.

Dermatol Ther ; 26(1): 46-54, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23384020

4.

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

Techanukul, Tanasit; Sethuraman, Gomathy; Zlotogorski, Abraham; Horev, Liran; Macarov, Michal; Trainer, Alison; Fong, Kenneth; Lens, Marko; Medenica, Ljiljana; Ramesh, Venkatesh; McGrath, John A; Lai-Cheong, Joey E.

Acta Derm Venereol ; 91(3): 267-70, 2011 May.

Artigo em Inglês | MEDLINE | ID: mdl-21336475

5.

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

Almaani, Noor; Liu, Lu; Dopping-Hepenstal, Patricia J C; Lai-Cheong, Joey E; Wong, Alvin; Nanda, Arti; Moss, Celia; Martinéz, Anna E; Mellerio, Jemima E; McGrath, John A.

Acta Derm Venereol ; 91(3): 262-6, 2011 May.

Artigo em Inglês | MEDLINE | ID: mdl-21448560

6.

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.

Petrof, Gabriela; Fong, Kenneth; Lai-Cheong, Joey E; Cockayne, Sarah E; McGrath, John A.

Australas J Dermatol ; 52(3): 224-6, 2011 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-21834823

7.

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

8.

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

9.

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

10.

Cutaneous manifestations of internal malignancy: diagnosis and management.

Kleyn, C Elise; Lai-Cheong, Joey E; Bell, Hazel K.

Am J Clin Dermatol ; 7(2): 71-84, 2006.

Artigo em Inglês | MEDLINE | ID: mdl-16605288

11.

What is Kindler syndrome?

Lai-Cheong, Joey E; McGrath, John A.

Skinmed ; 9(3): 145-6, 2011.

Artigo em Inglês | MEDLINE | ID: mdl-21675491

12.

Kindlin-1 controls Wnt and TGF-ß availability to regulate cutaneous stem cell proliferation.

Rognoni, Emanuel; Widmaier, Moritz; Jakobson, Madis; Ruppert, Raphael; Ussar, Siegfried; Katsougkri, Despoina; Böttcher, Ralph T; Lai-Cheong, Joey E; Rifkin, Daniel B; McGrath, John A; Fässler, Reinhard.

Nat Med ; 20(4): 350-9, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-24681597

13.

Revertant mosaicism in skin: natural gene therapy.

Lai-Cheong, Joey E; McGrath, John A; Uitto, Jouni.

Trends Mol Med ; 17(3): 140-8, 2011 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-21195026

14.

Next-generation diagnostics for inherited skin disorders.

Lai-Cheong, Joey E; McGrath, John A.

J Invest Dermatol ; 131(10): 1971-3, 2011 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-21918571

15.

Kindler syndrome.

Lai-Cheong, Joey E; McGrath, John A.

Dermatol Clin ; 28(1): 119-24, 2010 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-19945624

16.

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

Groves, Richard W; Liu, Lu; Dopping-Hepenstal, Patricia J; Markus, Hugh S; Lovell, Patricia A; Ozoemena, Linda; Lai-Cheong, Joey E; Gawler, Jeffrey; Owaribe, Katsushi; Hashimoto, Takashi; Mellerio, Jemima E; Mee, John B; McGrath, John A.

J Invest Dermatol ; 130(6): 1551-7, 2010 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-20164846

17.

Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa.

Shipman, Alexa Rose; Liu, Lu; Lai-Cheong, Joey E; McGrath, John A; Heagerty, Adrian.

JAMA Dermatol ; 150(9): 1025-7, 2014 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-24989707

18.

Genetic diseases of junctions.

Lai-Cheong, Joey E; Arita, Ken; McGrath, John A.

J Invest Dermatol ; 127(12): 2713-25, 2007 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-18007692

19.

Revertant mosaicism in Kindler syndrome.

Lai-Cheong, Joey E; Moss, Celia; Parsons, Maddy; Almaani, Noor; McGrath, John A.

J Invest Dermatol ; 132(3 Pt 1): 730-2, 2012 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-22089829

20.

Case of Kindler syndrome resulting from mutation in the FERMT1 gene.

Wada, Makoto; Masuda, Koji; Tsuruta, Daisuke; Tamai, Katsuto; Lai-Cheong, Joey E; McGrath, John A; Katoh, Norito.

J Dermatol ; 39(12): 1057-8, 2012 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-22672060

Portal de Pesquisa da BVS Enfermagem

Informação e Conhecimento para a Saúde

Configurar filtros

Sua seleção (0)

Formato de exportação:

Exportar:

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Pathogenesis-based therapies in ichthyoses.

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.

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

The molecular skin pathology of familial primary localized cutaneous amyloidosis.

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

Cutaneous manifestations of internal malignancy: diagnosis and management.

What is Kindler syndrome?

Kindlin-1 controls Wnt and TGF-ß availability to regulate cutaneous stem cell proliferation.

Revertant mosaicism in skin: natural gene therapy.

Next-generation diagnostics for inherited skin disorders.

Kindler syndrome.

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa.

Genetic diseases of junctions.

Revertant mosaicism in Kindler syndrome.

Case of Kindler syndrome resulting from mutation in the FERMT1 gene.