Microbiological Screening of Irish Patients with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Reveals Persistence of Candida albicans Strains, Gradual Reduction i... von MCMANUS, Brenda A, MCGOVERN, Eleanor, MORAN, Gary P, HEALY, Claire M, NUNN, June, FLEMING, Padraig, COSTIGAN, Colm, SULLIVAN, Derek J, COLEMAN, David C

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MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans von Hughes, Claire R, Guasti, Leonardo, Meimaridou, Eirini, Chuang, Chen-Hua, Schimenti, John C, King, Peter J, Costigan, Colm, Clark, Adrian J L, Metherell, Louise A

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth von LYNCH, Sally Ann, FOULDS, Nicola, COSTIGAN, Colm, LAM, Wayne, FITZPATRICK, David R, REGAN, Regina, ENNIS, Sean, SHARKEY, Freddie, THURESSON, Ann-Charlotte, COLLINS, Amanda L, ANNEREN, Göran, HEDBERG, Bernt-Oves, DELANEY, Carol A, IREMONGER, James, MURRAY, Caroline M, CROLLA, John A

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Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I von Puel, Anne, Döffinger, Rainer, Natividad, Angels, Chrabieh, Maya, Barcenas-Morales, Gabriela, Picard, Capucine, Cobat, Aurélie, Ouachée-Chardin, Marie, Toulon, Antoine, Bustamante, Jacinta, Al-Muhsen, Saleh, Al-Owain, Mohammed, Arkwright, Peter D, Costigan, Colm, McConnell, Vivienne, Cant, Andrew J, Abinun, Mario, Polak, Michel, Bougnères, Pierre-François, Kumararatne, Dinakantha, Marodi, László, Nahum, Amit, Roifman, Chaim, Blanche, Stéphane, Fischer, Alain, Bodemer, Christine, Abel, Laurent, Lilic, Desa, Casanova, Jean-Laurent

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Validation of Continuous Glucose Monitoring in Children and Adolescents With Cystic Fibrosis von Stephen M.P. O'Riordan, Peter Hindmarsh, Nathan R. Hill, David R. Matthews, Sherly George, Peter Greally, Gerard Canny, Dubhfeasa Slattery, Nuala Murphy, Edna Roche, Colm Costigan, Hilary Hoey

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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development von Kim, Gwang-Jin, Sock, Elisabeth, Buchberger, Astrid, Just, Walter, Denzer, Friederike, Hoepffner, Wolfgang, German, James, Cole, Trevor, Mann, Jillian, Seguin, John H, Zipf, William, Costigan, Colm, Schmiady, Hardi, Rostásy, Moritz, Kramer, Mildred, Kaltenbach, Simon, Rösler, Bernd, Georg, Ina, Troppmann, Elke, Teichmann, Anne-Christin, Salfelder, Anika, Widholz, Sebastian A, Wieacker, Peter, Hiort, Olaf, Camerino, Giovanna, Radi, Orietta, Wegner, Michael, Arnold, Hans-Henning, Scherer, Gerd

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Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I von Meloni, Antonella, Furcas, Maria, Cetani, Filomena, Marcocci, Claudio, Falorni, Alberto, Perniola, Roberto, Pura, Mikuláš, Bøe Wolff, Anette S., Husebye, Eystein S., Lilic, Desa, Ryan, Kelli R., Gennery, Andrew R., Cant, Andrew J., Abinun, Mario, Spickett, Gavin P., Arkwright, Peter D., Denning, David, Costigan, Colm, Dominguez, Maria, McConnell, Vivienne, Willcox, Nick, Meager, Anthony

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Sustained benefits of continuous subcutaneous insulin infusion von Hughes, C R, McDowell, N, Cody, D, Costigan, C

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Requirement for age-specific peak cortisol responses to insulin-induced hypoglycaemia in children von O'Grady, Michael J, Hensey, Conor, Fallon, Miriam, Hoey, Hilary, Murphy, Nuala, Costigan, Colm, Cody, Declan

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Validation of Continuous Glucose Monitoring in Children and Adolescents With Cystic Fibrosis: A prospective cohort study von O'Riordan, Stephen M.P, Hindmarsh, Peter, Hill, Nathan R, Matthews, David R, George, Sherly, Greally, Peter, Canny, Gerard, Slattery, Dubhfeasa, Murphy, Nuala, Roche, Edna, Costigan, Colm, Hoey, Hilary

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Lack of sensitivity of the 1-μg low-dose ACTH stimulation test in a paediatric population with suboptimal cortisol responses to insulin-induced hypoglycaemia von O'Grady, Michael J., Hensey, Conor, Fallon, Miriam, Hoey, Hilary, Murphy, Nuala, Costigan, Colm, Cody, Declan

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Lack of sensitivity of the 1-µg low-dose ACTH stimulation test in a paediatric population with suboptimal cortisol responses to insulin-induced hypoglycaemia von O'Grady, Michael J, Hensey, Conor, Fallon, Miriam, Hoey, Hilary, Murphy, Nuala, Costigan, Colm, Cody, Declan

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth von Lynch, Sally Ann, Foulds, Nicola, Thuresson, Ann-Charlotte, Collins, Amanda L, Annerén, Göran, Hedberg, Bernt-Oves, Delaney, Carol A, Iremonger, James, Murray, Caroline M, Crolla, John A, Costigan, Colm, Lam, Wayne, Fitzpatrick, David R, Regan, Regina, Ennis, Sean, Sharkey, Freddie

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Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid defi... von Chan, Li F., Metherell, Louise A., Krude, Heiko, Ball, Colin, O'Riordan, Stephen M. P., Costigan, Colm, Lynch, Sally A., Savage, Martin O., Cavarzere, Paolo, Clark, Adrian J. L.

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A Novel Variant of Familial Glucocorticoid Deficiency Prevalent among the Irish Traveler Population von O'Riordan, Stephen M. P., Lynch, Sally A., Hindmarsh, Peter C., Chan, Li F., Clark, Adrian J. L., Costigan, Colm

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Ocular complications of autoimmune polyendocrinopathy syndrome type 1 von Chang, Benjamin, Brosnahan, Donal, McCreery, Kathryn, Dominguez, Maria, Costigan, Colm

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The 12q14 microdeletion syndrome; 6 new cases confirming the role of HMGA2 in growth von Lynch, Sally Ann, Foulds, Nicola, Thuresson, Ann-Charlotte, Collins, Amanda, Annerén, Göran, Hedberg, Bernt-Oves, Delaney, Carol Ann, Iremonger, James, Murray, Caroline M, Crolla, John A, Costigan, Colm, Lam, Wayne, Fitzpatrick, David, Regan, Regina, Ennis, Sean, Sharkey, Freddie H

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Pattern-Recognition-Receptor Expression is Not Impaired in Patients with Chronic Mucocutanous Candidiasis with or without Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystr... von Hong, Min, Ryan, Kelli R, Arkwright, Peter D, Gennery, Andrew R, Costigan, Colm, Dominguez, Maria, Denning, David W., McConnell, Vivienne, Cant, Andrew J, Abinun, Mario, Spickett, Gavin P, Swan, Daniel C., Gillespie, Colin S., Young, David A., Lilic, Desa

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Profound hyperlipidaemia due to concomitant diabetes and hypothyroidism von Samaan, M Constantine, Murphy, Nuala, Costigan, Colm

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Moebius sequence and hypogonadotrophic hypogonadism von Jennings, Juliet E., Costigan, Colm, Reardon, William

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