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A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2884, doi. 10.1002/ajmg.a.63374
By:
- Coleman, John;
- Kavanagh, Karl;
- Kesterton, Ian;
- Hegarty, Ann‐Marie;
- O'Connell, Susan M.;
- Lynch, Sally Ann
Publication type:
Article
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents—the first cases of gonadal mosaicism in CFC?
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1637, doi. 10.1002/ajmg.a.38725
By:
- Geoghegan, Sarah;
- King, Graham;
- Henchliffe, Jennifer;
- Ramsden, Simon C.;
- Barry, Raymond J.;
- Green, Andrew J.;
- O'Connell, Susan M.
Publication type:
Article
Adiposity in Children Born Small for Gestational Age Is Associated With β-Cell Function, Genetic Variants for Insulin Resistance, and Response to Growth Hormone Treatment.
Published in:
2016
By:
- Thankamony, Ajay;
- Jensen, Rikke Beck;
- O'Connell, Susan M;
- Day, Felix;
- Kirk, Jeremy;
- Donaldson, Malcolm;
- Ivarsson, Sten A;
- Söder, Olle;
- Roche, Edna;
- Hoey, Hilary;
- Ong, Ken K;
- Dunger, David B;
- Juul, Anders
Publication type:
journal article
Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 7/8, p. 555, doi. 10.1515/jpem.2011.230
By:
- O'Connell, Susan M.;
- Johnson, Stephanie R.;
- Lewis, Barry D.;
- Staltari, Louise;
- Peverall, Joanne;
- Ly, Trang;
- Martin, Andrew C.;
- Jones, Timothy W.;
- Price, Glynis J.;
- Murch, Ashleigh;
- Choong, Catherine S.Y.
Publication type:
Article
A randomised controlled trial evaluating IGF1 titration in contrast to current GH dosing strategies in children born small for gestational age: the North European Small-for-Gestational-Age Study.
Published in:
European Journal of Endocrinology, 2014, v. 171, n. 4, p. 509, doi. 10.1530/EJE-14-0419
By:
- Jensen, Rikke Beck;
- Thankamony, Ajay;
- O'Connell, Susan M.;
- Kirk, Jeremy;
- Donaldson, Malcolm;
- Ivarsson, Sten-A.;
- Söder, Olle;
- Roche, Edna;
- Hoey, Hilary;
- Dunger, David B.;
- Juul, Anders
Publication type:
Article
Parent-child dyads in type 1 diabetes: Study of the impact of offspring diagnosis on control and outcomes.
Published in:
Diabetes Care for Children & Young People, 2019, v. 9, n. 1, p. 1
By:
- Cronin, Conor;
- Hennessey, Elena;
- Matyka, Krystyna;
- O'Connell, Susan M.
Publication type:
Article
Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism.
Published in:
Clinical Case Reports, 2020, v. 8, n. 7, p. 1217, doi. 10.1002/ccr3.2885
By:
- Joyce, Caroline M.;
- Houghton, Jayne A.;
- O'Halloran, Domhnall J.;
- O'Shea, Paula M.;
- O'Connell, Susan M.
Publication type:
Article
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
Published in:
Clinical Case Reports, 2015, v. 3, n. 10, p. 884, doi. 10.1002/ccr3.370
By:
- O'Connell, Susan M.;
- Proks, Peter;
- Kramer, Holger;
- Mattis, Katia K.;
- Sachse, Gregor;
- Joyce, Caroline;
- Houghton, Jayne A. L.;
- Ellard, Sian;
- Hattersley, Andrew T.;
- Ashcroft, Frances M.;
- O'Riordan, Stephen M. P.
Publication type:
Article
Response to IL-1-Receptor Antagonist in a Child with Familial Cold Autoinflammatory Syndrome.
Published in:
Pediatric Dermatology, 2007, v. 24, n. 1, p. 85, doi. 10.1111/j.1525-1470.2007.00343.x
By:
- O'Connell, Susan M.;
- O'Regan, Grainne M.;
- Bolger, Turlough;
- Hoffman, Hal. M.;
- Cant, Andrew;
- Irvine, Alan D.;
- Watson, Rosemarie M.
Publication type:
Article
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.
Published in:
Hormone Research in Paediatrics, 2017, v. 87, n. 2, p. 130, doi. 10.1159/000448172
By:
- MacMahon, Jayne M.;
- O'Sullivan, Maureen J.;
- McDermott, Michael;
- Quinn, Feargal;
- Morris, Thomas;
- Green, andrew J.;
- Betts, David R.;
- O'Connell, Susan M.
Publication type:
Article
Baseline IGF-I Levels Determine Insulin Secretion and Insulin Sensitivity during the First Year on Growth Hormone Therapy in Children Born Small for Gestational Age. Results from a North European Multicentre Study (NESGAS).
Published in:
Hormone Research in Paediatrics, 2013, v. 80, n. 1, p. 38, doi. 10.1159/000353438
By:
- Jensen, Rikke Beck;
- Thankamony, ajay;
- O'Connell, Susan M.;
- Salgin, Burak;
- Kirk, Jeremy;
- Donaldson, Malcolm;
- Ivarsson, Sten-a.;
- Söder, Olle;
- Roche, Edna;
- Hoey, Hilary;
- Dunger, David B.;
- Juul, anders
Publication type:
Article
The Irish National Rare Disease Office (NRDO): A national step towards improving access to health and care services for individuals and families living with Rare Diseases.
Published in:
2017
By:
- Lambert, Deborah;
- Marron, Rita;
- Turner, Jackie;
- O'Connell, Susan M.;
- O'Sullivan, Grace;
- Lynch, Sally Ann;
- Treacy, Eileen P.
Publication type:
Abstract
Does dietary fat cause a dose dependent glycemic response in youth with type 1 diabetes?
Published in:
Pediatric Diabetes, 2021, v. 22, n. 8, p. 1108, doi. 10.1111/pedi.13273
By:
- O'Connell, Susan M.;
- O'Toole, Nora M. A.;
- Cronin, Conor N.;
- Saat‐Murphy, Chen;
- McElduff, Patrick;
- King, Bruce R.;
- Smart, Carmel E.;
- Shafat, Amir
Publication type:
Article
Subarachnoid and parenchymal haemorrhages as a complication of severe diabetic ketoacidosis in a preadolescent with new onset type 1 diabetes.
Published in:
Pediatric Diabetes, 2018, v. 19, n. 8, p. 1487, doi. 10.1111/pedi.12760
By:
- Finn, Bryan P.;
- Power, Claire;
- McSweeney, Niamh;
- Breen, Dorothy;
- Wyse, Gerald;
- O'Connell, Susan M.
Publication type:
Article
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
Published in:
International Journal of Pediatric Endocrinology, 2017, v. 2017, p. 1, doi. 10.1186/s13633-016-0041-7
By:
- Abraham, Mary B.;
- Dong Li;
- Tang, Dave;
- O'Connell, Susan M.;
- McKenzie, Fiona;
- Ee Mun Lim;
- Hakonarson, Hakon;
- Levine, Michael A.;
- Choong, Catherine S.
Publication type:
Article
The incidence of transient infantile pseudohypoaldosteronism in Ireland: A prospective study.
Published in:
Acta Paediatrica, 2021, v. 110, n. 4, p. 1257, doi. 10.1111/apa.15688
By:
- Kaninde, Abhidhamma;
- Grace, Mariana L.;
- Joyce, Caroline;
- Taylor, Norman F.;
- Ghataore, Lea;
- Riordan, Micheal F.;
- O'Grady, Michael J.;
- O'Connell, Susan M.
Publication type:
Article
Reducing rates of severe hypoglycemia in a population-based cohort of children and adolescents with type 1 diabetes over the decade 2000-2009.
Published in:
2011
By:
- O'Connell SM;
- Cooper MN;
- Bulsara MK;
- Davis EA;
- Jones TW;
- O'Connell, Susan M;
- Cooper, Matthew N;
- Bulsara, Max K;
- Davis, Elizabeth A;
- Jones, Timothy W
Publication type:
journal article
Reducing Rates of Severe Hypoglycemia in a Population-Based Cohort of Children and Adolescents With Type 1 Diabetes Over the Decade 2000--2009.
Published in:
Diabetes Care, 2011, v. 34, n. 11, p. 2379, doi. 10.2337/dc11-0748
By:
- O'CONNELL, SUSAN M.;
- COOPER, MATTHEW N.;
- BULSARA, MAX K.;
- DAVIS, ELIZABETH A.;
- JONES, TIMOTHY W.
Publication type:
Article

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