O'Connell SM - Search Results

1

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?

Geoghegan S, King G, Henchliffe J, Ramsden SC, Barry RJ, Green AJ, O'Connell SM. Geoghegan S, et al. Am J Med Genet A. 2018 Jul;176(7):1637-1640. doi: 10.1002/ajmg.a.38725. Epub 2018 Apr 28. Am J Med Genet A. 2018. PMID: 29704308

2

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome.

MacMahon JM, O'Sullivan MJ, McDermott M, Quinn F, Morris T, Green AJ, Betts DR, O'Connell SM. MacMahon JM, et al. Horm Res Paediatr. 2017;87(2):130-135. doi: 10.1159/000448172. Epub 2016 Sep 10. Horm Res Paediatr. 2017. PMID: 27614983

3

Genetic conditions in the Irish Roma gypsy population.

O'Connell S, Butler K, McMenamin J, Waldron M, Green AJ. O'Connell S, et al. Ir Med J. 2005 Nov-Dec;98(10):246-7. Ir Med J. 2005. PMID: 16445146

4

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.

5

Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience.

Coyle D, Kutasy B, Han Suyin K, Antao B, Lynch SA, McDermott MB, O'Connell SM, Quinn F. Coyle D, et al. J Pediatr Urol. 2016 Oct;12(5):283.e1-283.e7. doi: 10.1016/j.jpurol.2016.02.009. Epub 2016 Mar 3. J Pediatr Urol. 2016. PMID: 27052295

6

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism.

Joyce CM, Houghton JA, O'Halloran DJ, O'Shea PM, O'Connell SM. Joyce CM, et al. Among authors: o connell sm. Clin Case Rep. 2020 Apr 23;8(7):1217-1222. doi: 10.1002/ccr3.2885. eCollection 2020 Jul. Clin Case Rep. 2020. PMID: 32695361 Free PMC article.

7

Development of an Insulin-Prescribing Chart for Paediatric Diabetes.

Finn BP, O’Neill T, Bradfield A, O’Sullivan T, Beattie S, O’Connell SM. Finn BP, et al. Ir Med J. 2019 Oct 15;112(9):999. Ir Med J. 2019. PMID: 31651129

8

High Rates of Diabetic Ketoacidosis in Patients with New and Known Type 1 Diabetes over a Six-Year Period.

Finn BP, Trayer J, Cronin C, O’Connell SM. Finn BP, et al. Ir Med J. 2019 Mar 14;112(3):898. Ir Med J. 2019. PMID: 31124347

9

Disseminated Mycobacterium africanum in an Immunocompetent Child.

Giva S, Geoghan S, Hickey C, Bogue C, Butler K, Mullane D, O'Connell SM. Giva S, et al. Ir Med J. 2016 Aug 8;109(7):443. Ir Med J. 2016. PMID: 27834093 No abstract available.

10

Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome.

O'Connell SM, O'Regan GM, Bolger T, Hoffman HM, Cant A, Irvine AD, Watson RM. O'Connell SM, et al. Pediatr Dermatol. 2007 Jan-Feb;24(1):85-9. doi: 10.1111/j.1525-1470.2007.00343.x. Pediatr Dermatol. 2007. PMID: 17300660

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