Cotter M - Search Results

1

Fontaine progeroid syndrome-A case report.

Lally S, Walsh N, Kenny J, Franklin O, Cotter M, Richardson S, McEligott F, Finan A. Lally S, et al. Among authors: cotter m. Clin Case Rep. 2022 Sep 6;10(9):e6291. doi: 10.1002/ccr3.6291. eCollection 2022 Sep. Clin Case Rep. 2022. PMID: 36093452 Free PMC article.

2

Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.

O'Grady MJ, Monavari AA, Cotter M, Murphy NP. O'Grady MJ, et al. Among authors: cotter m. BMJ Case Rep. 2015 Feb 26;2015:bcr2014208514. doi: 10.1136/bcr-2014-208514. BMJ Case Rep. 2015. PMID: 25721834 Free PMC article.

3

Novel ocular findings and progressive intracranial calcification in a case of Revesz syndrome.

McCaffrey J, Gorman K, McDermott M, Farrell S, Kassab G, Cotter M. McCaffrey J, et al. Among authors: cotter m. Br J Haematol. 2020 Nov;191(3):317. doi: 10.1111/bjh.16957. Epub 2020 Sep 23. Br J Haematol. 2020. PMID: 32966588 Free article. No abstract available.

4

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.

Marx D, Dupuis A, Eckly A, Molitor A, Olagne J, Touchard G, Kaaki S, Ory C, Faller AL, Gérard B, Cotter M, Westerberg L, Keszei M, Moulin B, Gachet C, Caillard S, Bahram S, Carapito R. Marx D, et al. Among authors: cotter m. Blood Adv. 2022 Sep 27;6(18):5279-5284. doi: 10.1182/bloodadvances.2021006789. Blood Adv. 2022. PMID: 35404999 Free PMC article.

5

A retrospective study of myeloid leukaemia in children with Down syndrome in Ireland.

Dowling GP, Piccin A, Gavin KT, Betts DR, Malone A, Cotter M, Sills A, Evans P, O' Marcaigh A, Smith OP. Dowling GP, et al. Among authors: cotter m. Ir J Med Sci. 2020 Aug;189(3):979-984. doi: 10.1007/s11845-020-02181-y. Epub 2020 Jan 31. Ir J Med Sci. 2020. PMID: 32006388

6

The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.

Hart C, McNulty J, Cotter M, Al Jasmi F, Crushell E, Monavari AA. Hart C, et al. Among authors: cotter m. JIMD Rep. 2021 Jun 9;61(1):34-41. doi: 10.1002/jmd2.12233. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485015 Free PMC article.

7

Catalogue of inherited disorders found among the Irish Traveller population.

Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J. Lynch SA, et al. Among authors: cotter m. J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358271

8

Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features.

McCarthy P, Cotter M, Smith OP. McCarthy P, et al. Among authors: cotter m. Br J Haematol. 2022 Feb;196(3):e39-e42. doi: 10.1111/bjh.17853. Epub 2021 Sep 22. Br J Haematol. 2022. PMID: 34549814 No abstract available.

9

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.

Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E. Casey JP, et al. Among authors: cotter m. J Inherit Metab Dis. 2015 Nov;38(6):1085-92. doi: 10.1007/s10545-015-9849-1. Epub 2015 Apr 28. J Inherit Metab Dis. 2015. PMID: 25917789

10

Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.

Gleeson M, O'Marcaigh A, Cotter M, Brosnahan D, Vulliamy T, Smith OP. Gleeson M, et al. Among authors: cotter m. Br J Haematol. 2012 Dec;159(5):498. doi: 10.1111/bjh.12088. Epub 2012 Oct 24. Br J Haematol. 2012. PMID: 23094712 Free article. No abstract available.

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