Ophthalmic Manifestations of Vitamin A and D Deficiency in Two Autistic Teenagers: Case Reports and a Review of the Literature

por Duignan, Emma, Kenna, Paul, Watson, Rosemarie, Fitzsimon, Susan, Brosnahan, Donal
Publicado 2015

Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis

por Cole, Christian, Kroboth, Karin, Schurch, Nicholas J., Sandilands, Aileen, Sherstnev, Alexander, O'Regan, Grainne M., Watson, Rosemarie M., Irwin McLean, W.H., Barton, Geoffrey J., Irvine, Alan D., Brown, Sara J.
Publicado 2014

Raman profiles of the stratum corneum define 3 filaggrin genotype–determined atopic dermatitis endophenotypes

por O'Regan, Gráinne M., Kemperman, Patrick M.J.H., Sandilands, Aileen, Chen, Huijia, Campbell, Linda E., Kroboth, Karin, Watson, Rosemarie, Rowland, Marion, Puppels, Gerwin J., McLean, W.H. Irwin, Caspers, Peter J., Irvine, Alan D.
Publicado 2010

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of fi...

por Kezic, Sanja, O’Regan, Gráinne M., Lutter, René, Jakasa, Ivone, Koster, Ellen S., Saunders, Sean, Caspers, Peter, Kemperman, Patrick M.J.H., Puppels, Gerwin J., Sandilands, Aileen, Chen, Huijia, Campbell, Linda E., Kroboth, Karin, Watson, Rosemarie, Fallon, Padraic G., McLean, W. H. Irwin, Irvine, Alan D.
Publicado 2012

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

por Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D., Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A., McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L., Odel, Jeffrey, O’Regan, Grainne M., Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B., Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M., Khumalo, Nonhlanhla P., Mayosi, Bongani M., Barbarot, Sébastien, Bézieau, Stéphane
Publicado 2015