Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Por Angelini, Roberto, Lobasso, Simona, Gorgoglione, Ruggiero, Bowron, Ann, Steward, Colin G., Corcelli, Angela
Publicado no J Lipid Res (2015)

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Por Keogh Steven J, McKee Shane, Smithson Sarah F, Grier David, Steward Colin G
Publicado em 2012-05-01

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Por Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G
Publicado em 2012

Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

Por Taylor-Miller, Tashunka, Sivaprakasam, Ponni, Smithson, Sarah F., Steward, Colin G., Burren, Christine P.
Publicado no Bone Rep (2020)

Lobar Collapse and Obliteration of Air Bronchogram Allowing Early Diagnosis of Endobronchial Aspergillus Infection following Hematopoietic Stem Cell Transplantation

Por Thompson, Elizabeth, Thyagarajan, Manigandan S., Johnson, Elizabeth, Weeden, David, Morgan, Mary, Groves, Sarah J., Steward, Colin G.
Publicado no Case Rep Radiol (2014)

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Por Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Publicado no J Inherit Metab Dis (2014)

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Por Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Publicado no J Inherit Metab Dis (2015)

Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissio...

Por Dabner, Lucy, Pieles, Guido E, Steward, Colin G, Hamilton-Shield, Julian P, Ness, Andrew R, Rogers, Chris A, Bucciarelli-Ducci, Chiara, Greenwood, Rosemary, Ellis, Lucy, Sheehan, Karen, Reeves, Barnaby C
Publicado no JMIR Res Protoc (2021)

Adoptive transfer of cytomegalovirus-specific CTL to stem cell transplant patients after selection by HLA–peptide tetramers

Por Cobbold, Mark, Khan, Naeem, Pourgheysari, Batoul, Tauro, Sudhir, McDonald, Dorothy, Osman, Husam, Assenmacher, Mario, Billingham, Lucinda, Steward, Colin, Crawley, Charles, Olavarria, Eduardo, Goldman, John, Chakraverty, Ronjon, Mahendra, Premini, Craddock, Charles, Moss, Paul A.H.
Publicado em 2005

Neutropenia in Barth syndrome: characteristics, risks and management

Por Steward, Colin G., Groves, Sarah J., Taylor, Carolyn T., Maisenbacher, Melissa K., Versluys, Birgitta, Newbury-Ecob, Ruth A., Ozsahin, Hulya, Damin, Michaela K., Bowen, Valerie M., McCurdy, Katherine R., Mackey, Michael C., Bolyard, Audrey A., Dale, David C.
Publicado no Curr Opin Hematol (2019)

Barth syndrome

Por Clarke Sarah LN, Bowron Ann, Gonzalez Iris L, Groves Sarah J, Newbury-Ecob Ruth, Clayton Nicol, Martin Robin P, Tsai-Goodman Beverly, Garratt Vanessa, Ashworth Michael, Bowen Valerie M, McCurdy Katherine R, Damin Michaela K, Spencer Carolyn T, Toth Matthew J, Kelley Richard I, Steward Colin G
Publicado em 2013-02-01

Barth syndrome

Por Clarke, Sarah LN, Bowron, Ann, Gonzalez, Iris L, Groves, Sarah J, Newbury-Ecob, Ruth, Clayton, Nicol, Martin, Robin P, Tsai-Goodman, Beverly, Garratt, Vanessa, Ashworth, Michael, Bowen, Valerie M, McCurdy, Katherine R, Damin, Michaela K, Spencer, Carolyn T, Toth, Matthew J, Kelley, Richard I, Steward, Colin G
Publicado em 2013

Impact of immune modulation with in vivo T-cell depletion and myleoablative total body irradiation conditioning on outcomes after unrelated donor transplantation for childhood acut...

Por Veys, Paul, Wynn, Robert F., Ahn, Kwang Woo, Samarasinghe, Sujith, He, Wensheng, Bonney, Denise, Craddock, John, Cornish, Jacqueline, Davies, Stella M., Dvorak, Christopher C., Duerst, Reggie E., Gross, Thomas G., Kapoor, Neena, Kitko, Carrie, Krance, Robert A., Leung, Wing, Lewis, Victor A., Steward, Colin, Wagner, John E., Carpenter, Paul A., Eapen, Mary
Publicado em 2012

Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis

Por Felber, Matthias, Steward, Colin G., Kentouche, Karim, Fasth, Anders, Wynn, Robert F., Zeilhofer, Ulrike, Haunerdinger, Veronika, Volkmer, Benjamin, Prader, Seraina, Gruhn, Bernd, Ehl, Stephan, Lehmberg, Kai, Müller, Daniel, Gennery, Andrew R., Albert, Michael H., Hauck, Fabian, Rao, Kanchan, Veys, Paul, Hassan, Moustapha, Lankester, Arjan C., Schmid, Jana Pachlopnik, Hauri-Hohl, Mathias M., Güngör, Tayfun
Publicado no Blood Adv (2020)

Dynamic Cardiolipin Synthesis Is Required for CD8(+) T Cell Immunity

Por Corrado, Mauro, Edwards-Hicks, Joy, Villa, Matteo, Flachsmann, Lea J., Sanin, David E., Jacobs, Maaike, Baixauli, Francesc, Stanczak, Michal, Anderson, Eve, Azuma, Mai, Quintana, Andrea, Curtis, Jonathan D., Clapes, Thomas, Grzes, Katarzyna M., Kabat, Agnieszka M., Kyle, Ryan, Patterson, Annette E., Geltink, Ramon Klein, Amulic, Borko, Steward, Colin G., Strathdee, Douglas, Trompouki, Eirini, O’Sullivan, David, Pearce, Edward J., Pearce, Erika L.
Publicado no Cell Metab (2020)

Human NK cell deficiency as a result of biallelic mutations in MCM10

Por Mace, Emily M., Paust, Silke, Conte, Matilde I., Baxley, Ryan M., Schmit, Megan M., Patil, Sagar L., Guilz, Nicole C., Mukherjee, Malini, Pezzi, Ashley E., Chmielowiec, Jolanta, Tatineni, Swetha, Chinn, Ivan K., Akdemir, Zeynep Coban, Jhangiani, Shalini N., Muzny, Donna M., Stray-Pedersen, Asbjørg, Bradley, Rachel E., Moody, Mo, Connor, Philip P., Heaps, Adrian G., Steward, Colin, Banerjee, Pinaki P., Gibbs, Richard A., Borowiak, Malgorzata, Lupski, James R., Jolles, Stephen, Bielinsky, Anja K., Orange, Jordan S.
Publicado no J Clin Invest (2020)

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Por Booth, Claire, Gilmour, Kimberly C., Veys, Paul, Gennery, Andrew R., Slatter, Mary A., Chapel, Helen, Heath, Paul T., Steward, Colin G., Smith, Owen, O'Meara, Anna, Kerrigan, Hilary, Mahlaoui, Nizar, Cavazzana-Calvo, Marina, Fischer, Alain, Moshous, Despina, Blanche, Stephane, Pachlopnick-Schmid, Jana, Latour, Sylvain, de Saint-Basile, Genevieve, Albert, Michael, Notheis, Gundula, Rieber, Nikolaus, Strahm, Brigitte, Ritterbusch, Henrike, Lankester, Arjan, Hartwig, Nico G., Meyts, Isabelle, Plebani, Alessandro, Soresina, Annarosa, Finocchi, Andrea, Pignata, Claudio, Cirillo, Emilia, Bonanomi, Sonia, Peters, Christina, Kalwak, Krzysztof, Pasic, Srdjan, Sedlacek, Petr, Jazbec, Janez, Kanegane, Hirokazu, Nichols, Kim E., Hanson, I. Celine, Kapoor, Neena, Haddad, Elie, Cowan, Morton, Choo, Sharon, Smart, Joanne, Arkwright, Peter D., Gaspar, Hubert B.
Publicado em 2011