Microbiological Screening of Irish Patients with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Reveals Persistence of Candida albicans Strains, Gradual Reduction in Susceptibility to Azoles, and Incidences of Clinical Signs of Oral Candidiasis without Culture Evidence
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Published in Journal of Clinical Microbiology (01.05.2011)
Published in Journal of Clinical Microbiology (01.05.2011)
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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
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Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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Validation of Continuous Glucose Monitoring in Children and Adolescents With Cystic Fibrosis
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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Published in Diabetes care (01.06.2009)
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P284 A case of familial cranial diabetes insipidus – it’s all in the history
Conlon, Tracey A, Moloney, Sinead, Costigan, Colm, Murphy, Nuala P
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
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
Published in The Journal of clinical investigation (01.03.2012)
Published in The Journal of clinical investigation (01.03.2012)
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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
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
Published in The Journal of experimental medicine (15.02.2010)
Published in The Journal of experimental medicine (15.02.2010)
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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
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
Published in Journal of medical genetics (01.04.2015)
Published in Journal of medical genetics (01.04.2015)
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Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I
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
Published in The journal of clinical endocrinology and metabolism (01.11.2008)
Published in The journal of clinical endocrinology and metabolism (01.11.2008)
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Free insulin-like growth factor I (IGF-I) and IGF-II in human saliva
Costigan, D C, Guyda, H J, Posner, B I
Published in The journal of clinical endocrinology and metabolism (01.05.1988)
Published in The journal of clinical endocrinology and metabolism (01.05.1988)
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Validation of Continuous Glucose Monitoring in Children and Adolescents With Cystic Fibrosis: A prospective cohort study
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
Published in Diabetes care (01.06.2009)
Published in Diabetes care (01.06.2009)
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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
O'Grady, Michael J., Hensey, Conor, Fallon, Miriam, Hoey, Hilary, Murphy, Nuala, Costigan, Colm, Cody, Declan
Published in Clinical endocrinology (Oxford) (01.01.2013)
Published in Clinical endocrinology (Oxford) (01.01.2013)
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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
O'Grady, Michael J, Hensey, Conor, Fallon, Miriam, Hoey, Hilary, Murphy, Nuala, Costigan, Colm, Cody, Declan
Published in Clinical endocrinology (Oxford) (01.01.2013)
Published in Clinical endocrinology (Oxford) (01.01.2013)
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Sustained benefits of continuous subcutaneous insulin infusion
Hughes, C R, McDowell, N, Cody, D, Costigan, C
Published in Archives of disease in childhood (01.03.2012)
Published in Archives of disease in childhood (01.03.2012)
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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
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
Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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Raynaud's phenomenon as a presenting feature of hypothyroidism in an 11-year-old girl
Batthish, Michelle, Costigan, Colm, Killeen, Orla G
Published in Journal of rheumatology (01.01.2009)
Published in Journal of rheumatology (01.01.2009)
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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 deficiency
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.
Published in Clinical endocrinology (Oxford) (01.08.2009)
Published in Clinical endocrinology (Oxford) (01.08.2009)
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A Novel Variant of Familial Glucocorticoid Deficiency Prevalent among the Irish Traveler Population
O'Riordan, Stephen M. P., Lynch, Sally A., Hindmarsh, Peter C., Chan, Li F., Clark, Adrian J. L., Costigan, Colm
Published in The journal of clinical endocrinology and metabolism (01.07.2008)
Published in The journal of clinical endocrinology and metabolism (01.07.2008)
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Ocular complications of autoimmune polyendocrinopathy syndrome type 1
Chang, Benjamin, Brosnahan, Donal, McCreery, Kathryn, Dominguez, Maria, Costigan, Colm
Published in Journal of AAPOS (01.12.2006)
Published in Journal of AAPOS (01.12.2006)
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The 12q14 microdeletion syndrome; 6 new cases confirming the role of HMGA2 in growth
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
Published in European journal of human genetics : EJHG (26.01.2011)
Published in European journal of human genetics : EJHG (26.01.2011)
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