Publications by authors named "Colm Costigan"

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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.
Gwang-Jin Kim, Elisabeth Sock, Astrid Buchberger, Walter Just, Friederike Denzer, Colm Costigan

J Med Genet· April 2015

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

Eur J Endocrinol· August 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.
Michael J O'Grady, Conor Hensey, Miriam Fallon, Hilary Hoey, Nuala Murphy, Colm Costigan

Clin Endocrinol (Oxf)· January 2013

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

BMJ Case Rep· October 2012

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MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.
Claire R Hughes, Leonardo Guasti, Eirini Meimaridou, Chen-Hua Chuang, John C Schimenti, Colm Costigan

J Clin Invest· March 2012

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Sally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, Amanda L Collins, Göran Annerén, Colm Costigan

Eur J Hum Genet· May 2011

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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.
Brenda A McManus, Eleanor McGovern, Gary P Moran, Claire M Healy, June Nunn, Colm Costigan

J Clin Microbiol· May 2011

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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.
Anne Puel, Rainer Döffinger, Angels Natividad, Maya Chrabieh, Gabriela Barcenas-Morales, Colm Costigan

J Exp Med· February 2010

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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.
Li F Chan, Louise A Metherell, Heiko Krude, Colin Ball, Stephen M P O'Riordan, Colm Costigan

Clin Endocrinol (Oxf)· August 2009

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Validation of continuous glucose monitoring in children and adolescents with cystic fibrosis: a prospective cohort study.
Stephen M P O'Riordan, Peter Hindmarsh, Nathan R Hill, David R Matthews, Sherly George, Colm Costigan

Diabetes Care· June 2009

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Raynaud's phenomenon as a presenting feature of hypothyroidism in an 11-year-old girl.
Michelle Batthish, Colm Costigan, Orla G Killeen

J Rheumatol· January 2009

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Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.
Antonella Meloni, Maria Furcas, Filomena Cetani, Claudio Marcocci, Alberto Falorni, Colm Costigan

J Clin Endocrinol Metab· November 2008

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A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population.
Stephen M P O'Riordan, Sally A Lynch, Peter C Hindmarsh, Li F Chan, Adrian J L Clark, Colm Costigan

J Clin Endocrinol Metab· July 2008

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

J AAPOS· December 2006

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.
Maria Dominguez, Ellen Crushell, Tanja Ilmarinen, Eleanor McGovern, Sinead Collins, Colm Costigan

J Pediatr Endocrinol Metab· November 2006

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

Am J Med Genet A· November 2003

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Congenital ptosis with esotropia in brothers.
Asha Latha Madasseri, Paul Mullaney, Colm Costigan, William Reardon

Clin Dysmorphol· April 2003

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