Human T cell lymphotropic virus type 1- associated infective dermatitis in KwaZulu Natal, South Africa

Por Hlela, Carol, Graham, Natalie, Bhigjee, Ahmed I, Taylor, Graham P, Khumalo, Nonhlanhla P, Mosam, Anisa
Publicado em 2013

Pathologic grooming (acne excoriee, trichotillomania, and nail biting) in 4 generations of a single family

Por Khumalo, Nonhlanhla P., Shaboodien, Gasnat, Hemmings, Sian M.J., Moolman-Smook, Johanna C., Stein, Dan J.
Publicado no JAAD Case Rep (2016)

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)

Por Küry, Sébastien, Mercier, Sandra, Shaboodien, Gasnat, Besnard, Thomas, Barbarot, Sébastien, Khumalo, Nonhlanhla P, Mayosi, Bongani M, Bézieau, Stéphane
Publicado no Eur J Hum Genet (2016)

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

Por Mercier, Sandra, Küry, Sébastien, Shaboodien, Gasnat, Houniet, Darren T., Khumalo, Nonhlanhla P., Bou-Hanna, Chantal, Bodak, Nathalie, Cormier-Daire, Valérie, David, Albert, Faivre, Laurence, Figarella-Branger, Dominique, Gherardi, Romain K., Glen, Elise, Hamel, Antoine, Laboisse, Christian, Le Caignec, Cédric, Lindenbaum, Pierre, Magot, Armelle, Munnich, Arnold, Mussini, Jean-Marie, Pillay, Komala, Rahman, Thahira, Redon, Richard, Salort-Campana, Emmanuelle, Santibanez-Koref, Mauro, Thauvin, Christel, Barbarot, Sébastien, Keavney, Bernard, Bézieau, Stéphane, Mayosi, Bongani M.
Publicado em 2013

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 no Orphanet J Rare Dis (2015)