Search details
1.
Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.
Mol Cell
; 70(4): 707-721.e7, 2018 05 17.
Article
in English
| MEDLINE | ID: mdl-29754823
2.
A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy.
Am J Med Genet A
; 191(12): 2884-2889, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37638701
3.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
; 103(6): 1038-1044, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30503519
4.
Does dietary fat cause a dose dependent glycemic response in youth with type 1 diabetes?
Pediatr Diabetes
; 22(8): 1108-1114, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34719089
5.
The incidence of transient infantile pseudohypoaldosteronism in Ireland: A prospective study.
Acta Paediatr
; 110(4): 1257-1263, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33245792
6.
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
Am J Med Genet A
; 176(7): 1637-1640, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29704308
7.
Subarachnoid and parenchymal haemorrhages as a complication of severe diabetic ketoacidosis in a preadolescent with new onset type 1 diabetes.
Pediatr Diabetes
; 19(8): 1487-1491, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30175460
8.
The Role of Dietary Protein and Fat in Glycaemic Control in Type 1 Diabetes: Implications for Intensive Diabetes Management.
Curr Diab Rep
; 15(9): 61, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26202844
9.
Safety of intramuscular testosterone in arachis oil for boys with peanut allergy requiring pubertal induction.
Ann Allergy Asthma Immunol
; 124(1): 94-95, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31654765
10.
A population-based study of risk factors for severe hypoglycaemia in a contemporary cohort of childhood-onset type 1 diabetes.
Diabetologia
; 56(10): 2164-70, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23832082
11.
Close intervention sessions complement intensive insulin therapy in paediatric diabetes: a longitudinal study.
Arch Dis Child
; 108(10): 818-823, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37402632
12.
Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy.
J Pediatr Endocrinol Metab
; 24(7-8): 555-9, 2011.
Article
in English
| MEDLINE | ID: mdl-21932599
13.
Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism.
Clin Case Rep
; 8(7): 1217-1222, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32695361
14.
Supraventricular tachycardia as a complication of severe diabetic ketoacidosis in an adolescent with new-onset type 1 diabetes.
BMJ Case Rep
; 20182018 Mar 15.
Article
in English
| MEDLINE | ID: mdl-29545427
15.
Incidence of Congenital Hypothyroidism Over 37 Years in Ireland.
Pediatrics
; 142(4)2018 10.
Article
in English
| MEDLINE | ID: mdl-30242075
16.
Transient neonatal hypercalcaemia secondary to excess maternal vitamin D intake: too much of a good thing.
BMJ Case Rep
; 20172017 Jul 06.
Article
in English
| MEDLINE | ID: mdl-28687684
17.
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.
Int J Pediatr Endocrinol
; 2017: 1, 2017.
Article
in English
| MEDLINE | ID: mdl-28138333
18.
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.
Horm Res Paediatr
; 87(2): 130-135, 2017.
Article
in English
| MEDLINE | ID: mdl-27614983
19.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Nat Rev Endocrinol
; 13(2): 105-124, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27585961
20.
Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience.
J Pediatr Urol
; 12(5): 283.e1-283.e7, 2016 Oct.
Article
in English
| MEDLINE | ID: mdl-27052295