Search Results - "Demetriou, Kalliope"

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report by Selvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David, McGill, Jim

“…N‐acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme,…”
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Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia by Demetriou, Kalliope, Nisbet, Janelle, Coman, David, Ewing, Adam D., Phillips, Liza, Smith, Sally, Lipke, Michelle, Inwood, Anita, Spicer, Janette, Atthow, Catherine, Wilgen, Urs, Robertson, Thomas, McWhinney, Avis, Swenson, Rebecca, Espley, Brayden, Snowdon, Brianna, McGill, James J., Summers, Kim M.

“…Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical…”
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum by Celse, Tristan, Tingaud-Sequeira, Angèle, Dieterich, Klaus, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Soussi Zander, Cecilia, Turesson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Khau Van Kien, Philippe, Godin, Manon, Gruchy, Nicolas, Goel, Himanshu, Palmer, Elizabeth, Demetriou, Kalliope, Shalhoub, Carolyn, Rooryck, Caroline, Coutton, Charles

“…Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically…”
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Jansen-DeVries Syndrome: Expansion of the PPM1D Clinical and Phenotypic Spectrum in 34 Families by Wojcik, Monica H, Srivastava, Siddharth, Agrawal, Pankaj B, Balci, Tugce B, Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra-Clarke, Marina, Edwards, Matthew, Genetti, Casie A, Grange, Dorothy K, Hickey, Scott E, Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M, Lavillaureix, Alinoe, Lyons, Michael J, Marcelis, Carlo, Marco, Elysa J, Martinez-Agosto, Julian A, Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J, Riberi, Evelise, Rush, Eric T, Russell, Bianca E, Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A, Wilson, Kate, Jansen, Sandra, deVries, Bert B.A., Curry, Cynthia J

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Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families by Wojcik, Monica H., Srivastava, Siddharth, Agrawal, Pankaj B., Balci, Tugce B., Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra‐Clarke, Marina, Edwards, Matthew, Genetti, Casie A., Grange, Dorothy K., Hickey, Scott E., Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M., Lavillaureix, Alinoe, Lyons, Michael J., Marcelis, Carlo, Marco, Elysa J., Martinez‐Agosto, Julian A., Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J., Riberi, Evelise, Rush, Eric T., Russell, Bianca E., Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A., Wilson, Kate, Jansen, Sandra, Vries, Bert B. A., Curry, Cynthia J.

“…Jansen‐de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum…”
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