Dias RP - Search Results

1

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology.

Tee L, Lim DH, Dias RP, Baudement MO, Slater AA, Kirby G, Hancocks T, Stewart H, Hardy C, Macdonald F, Maher ER. Tee L, et al. Among authors: dias rp. Clin Epigenetics. 2013 Dec 10;5(1):23. doi: 10.1186/1868-7083-5-23. Clin Epigenetics. 2013. PMID: 24325814 Free PMC article.

2

An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease.

Dias RP, Maher ER. Dias RP, et al. Genome Med. 2012 Jul 30;4(7):60. doi: 10.1186/gm361. eCollection 2012. Genome Med. 2012. PMID: 22839767 Free PMC article.

3

Genes, assisted reproductive technology and trans-illumination.

Dias RP, Maher ER. Dias RP, et al. Epigenomics. 2013 Jun;5(3):331-40. doi: 10.2217/epi.13.28. Epigenomics. 2013. PMID: 23750647 Review.

4

Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

Dias RP, Nightingale P, Hardy C, Kirby G, Tee L, Price S, Macdonald F, Barrett TG, Maher ER. Dias RP, et al. J Med Genet. 2013 Sep;50(9):635-9. doi: 10.1136/jmedgenet-2013-101693. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812911

5

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.

Ibrahim A, Kirby G, Hardy C, Dias RP, Tee L, Lim D, Berg J, MacDonald F, Nightingale P, Maher ER. Ibrahim A, et al. Among authors: dias rp. Clin Epigenetics. 2014 Jun 4;6(1):11. doi: 10.1186/1868-7083-6-11. eCollection 2014. Clin Epigenetics. 2014. PMID: 24982696 Free PMC article.

6

ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.

Ochoa E, Lee S, Lan-Leung B, Dias RP, Ong KK, Radley JA, Pérez de Nanclares G, Martinez R, Clark G, Martin E, Castaño L, Bottolo L, Maher ER. Ochoa E, et al. Among authors: dias rp. Genet Med. 2022 Feb;24(2):463-474. doi: 10.1016/j.gim.2021.10.011. Epub 2021 Dec 3. Genet Med. 2022. PMID: 34906518 Free article.

7

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.

8

Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

Dias RP, Buchanan CR, Thomas N, Lim S, Solanki G, Connor SE, Barrett TG, Kapoor RR. Dias RP, et al. Orphanet J Rare Dis. 2016 Feb 10;11:14. doi: 10.1186/s13023-016-0397-z. Orphanet J Rare Dis. 2016. PMID: 26860746 Free PMC article.

9

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

Idkowiak J, Taylor AE, Subtil S, O'Neil DM, Vijzelaar R, Dias RP, Amin R, Barrett TG, Shackleton CH, Kirk JM, Moss C, Arlt W. Idkowiak J, et al. Among authors: dias rp. J Clin Endocrinol Metab. 2016 Jun;101(6):2545-53. doi: 10.1210/jc.2015-4101. Epub 2016 Mar 22. J Clin Endocrinol Metab. 2016. PMID: 27003302 Free PMC article.

10

Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.

Cummings K, Watkins A, Jones C, Dias R, Welham A. Cummings K, et al. J Neurodev Disord. 2022 Jan 4;14(1):1. doi: 10.1186/s11689-021-09406-w. J Neurodev Disord. 2022. PMID: 34983360 Free PMC article. Review.

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