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Items: 29

1.

Genetic Analysis of Copy Number Variation in Large Chorangiomas.

Sirotkina M, Douroudis K, Westgren M, Papadogiannakis N.

Pediatr Dev Pathol. 2019 May-Jun;22(3):236-242. doi: 10.1177/1093526618811744. Epub 2018 Nov 14.

PMID:
30428272
2.

Exploring the association between chorangioma and infantile haemangioma in singleton and multiple pregnancies: a case-control study in a Swedish tertiary centre.

Sirotkina M, Douroudis K, Wahlgren CF, Westgren M, Papadogiannakis N.

BMJ Open. 2017 Sep 3;7(9):e015539. doi: 10.1136/bmjopen-2016-015539.

3.

Interaction between childhood maltreatment on immunogenetic risk in depression: Discovery and replication in clinical case-control samples.

Cohen-Woods S, Fisher HL, Ahmetspahic D, Douroudis K, Stacey D, Hosang GM, Korszun A, Owen M, Craddock N, Arolt V, Dannlowski U, Breen G, Craig IW, Farmer A, Baune BT, Lewis CM, Uher R, McGuffin P.

Brain Behav Immun. 2018 Jan;67:203-210. doi: 10.1016/j.bbi.2017.08.023. Epub 2017 Sep 1.

PMID:
28867280
4.

Clinical Outcome in Singleton and Multiple Pregnancies with Placental Chorangioma.

Sirotkina M, Douroudis K, Papadogiannakis N, Westgren M.

PLoS One. 2016 Nov 11;11(11):e0166562. doi: 10.1371/journal.pone.0166562. eCollection 2016.

5.

Respiratory chain deficiency in nonmitochondrial disease.

Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.

Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun.

6.

Association of chorangiomas to hypoxia-related placental changes in singleton and multiple pregnancy placentas.

Sirotkina M, Douroudis K, Westgren M, Papadogiannakis N.

Placenta. 2016 Mar;39:154-9. doi: 10.1016/j.placenta.2016.01.020. Epub 2016 Feb 2.

PMID:
26992689
7.

Exome sequencing in dementia with Lewy bodies.

Keogh MJ, Kurzawa-Akanbi M, Griffin H, Douroudis K, Ayers KL, Hussein RI, Hudson G, Pyle A, Cordell HJ, Attems J, McKeith IG, O'Brien JT, Burn DJ, Morris CM, Thomas AJ, Chinnery PF.

Transl Psychiatry. 2016 Feb 2;6:e728. doi: 10.1038/tp.2015.220.

8.

SCP2 mutations and neurodegeneration with brain iron accumulation.

Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF.

Neurology. 2015 Nov 24;85(21):1909-11. doi: 10.1212/WNL.0000000000002157. Epub 2015 Oct 23. No abstract available.

9.

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x. Epub 2015 May 16.

10.

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.

Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, Chinnery PF, Horvath R.

J Neurol. 2015 Jul;262(7):1673-7. doi: 10.1007/s00415-015-7755-y. Epub 2015 May 10.

11.

Phenotypic variability of TRPV4 related neuropathies.

Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmüller H, Horvath R.

Neuromuscul Disord. 2015 Jun;25(6):516-21. doi: 10.1016/j.nmd.2015.03.007. Epub 2015 Mar 18.

12.

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF.

Neurology. 2015 Apr 28;84(17):1818-20. doi: 10.1212/WNL.0000000000001517. Epub 2015 Apr 1. No abstract available.

13.

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF.

Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12.

14.

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R.

J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003.

15.

Identification of seven loci affecting mean telomere length and their association with disease.

Codd V, Nelson CP, Albrecht E, Mangino M, Deelen J, Buxton JL, Hottenga JJ, Fischer K, Esko T, Surakka I, Broer L, Nyholt DR, Mateo Leach I, Salo P, Hägg S, Matthews MK, Palmen J, Norata GD, O'Reilly PF, Saleheen D, Amin N, Balmforth AJ, Beekman M, de Boer RA, Böhringer S, Braund PS, Burton PR, de Craen AJ, Denniff M, Dong Y, Douroudis K, Dubinina E, Eriksson JG, Garlaschelli K, Guo D, Hartikainen AL, Henders AK, Houwing-Duistermaat JJ, Kananen L, Karssen LC, Kettunen J, Klopp N, Lagou V, van Leeuwen EM, Madden PA, Mägi R, Magnusson PK, Männistö S, McCarthy MI, Medland SE, Mihailov E, Montgomery GW, Oostra BA, Palotie A, Peters A, Pollard H, Pouta A, Prokopenko I, Ripatti S, Salomaa V, Suchiman HE, Valdes AM, Verweij N, Viñuela A, Wang X, Wichmann HE, Widen E, Willemsen G, Wright MJ, Xia K, Xiao X, van Veldhuisen DJ, Catapano AL, Tobin MD, Hall AS, Blakemore AI, van Gilst WH, Zhu H; CARDIoGRAM consortium, Erdmann J, Reilly MP, Kathiresan S, Schunkert H, Talmud PJ, Pedersen NL, Perola M, Ouwehand W, Kaprio J, Martin NG, van Duijn CM, Hovatta I, Gieger C, Metspalu A, Boomsma DI, Jarvelin MR, Slagboom PE, Thompson JR, Spector TD, van der Harst P, Samani NJ.

Nat Genet. 2013 Apr;45(4):422-7, 427e1-2. doi: 10.1038/ng.2528.

16.

Polymorphisms in the ATG16L1 gene are associated with psoriasis vulgaris.

Douroudis K, Kingo K, Traks T, Reimann E, Raud K, Rätsep R, Mössner R, Silm H, Vasar E, Kõks S.

Acta Derm Venereol. 2012 Jan;92(1):85-7. doi: 10.2340/00015555-1183. No abstract available.

17.

ATG16L1 gene polymorphisms are associated with palmoplantar pustulosis.

Douroudis K, Kingo K, Traks T, Rätsep R, Silm H, Vasar E, Kõks S.

Hum Immunol. 2011 Jul;72(7):613-5. doi: 10.1016/j.humimm.2011.03.009. Epub 2011 Apr 8.

PMID:
21513755
18.

Immunohistochemical expression of the PRO2268 protein in psoriasis vulgaris skin.

Douroudis K, Sirotkina M, Kingo K, Mössner R, Kõks S.

Hum Immunol. 2011 Jun;72(6):522-4. doi: 10.1016/j.humimm.2011.03.002. Epub 2011 Mar 15.

PMID:
21414369
19.

The PRO2268 gene as a novel susceptibility locus for vitiligo.

Douroudis K, Kingo K, Karelson M, Silm H, Reimann E, Traks T, Vasar E, Kõks S.

Acta Derm Venereol. 2011 Mar;91(2):189-91. doi: 10.2340/00015555-0999. No abstract available.

20.

PTPN22 gene regulates natural killer cell proliferation during in vitro expansion.

Douroudis K, Shcherbakova A, Everaus H, Aints A.

Tissue Antigens. 2010 Oct;76(4):315-8. doi: 10.1111/j.1399-0039.2010.01512.x.

PMID:
20522204
21.

The CD226 Gly307Ser gene polymorphism is associated with severity of psoriasis.

Douroudis K, Kingo K, Silm H, Reimann E, Traks T, Vasar E, Kõks S.

J Dermatol Sci. 2010 May;58(2):160-1. doi: 10.1016/j.jdermsci.2010.03.015. Epub 2010 Mar 30. No abstract available.

PMID:
20399620
22.

Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.

Douroudis K, Kisand K, Nemvalts V, Rajasalu T, Uibo R.

BMC Med Genet. 2010 Jan 20;11:11. doi: 10.1186/1471-2350-11-11.

23.

CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults.

Douroudis K, Prans E, Uibo R.

Hum Immunol. 2009 Nov;70(11):921-4. doi: 10.1016/j.humimm.2009.09.349. Epub 2009 Sep 6.

PMID:
19735686
24.

The CD226 gene in susceptibility of type 1 diabetes.

Douroudis K, Nemvalts V, Rajasalu T, Kisand K, Uibo R.

Tissue Antigens. 2009 Nov;74(5):417-9. doi: 10.1111/j.1399-0039.2009.01320.x. Epub 2009 Jul 15.

PMID:
19624611
25.

Association of CTLA4 but not ICOS polymorphisms with type 1 diabetes in two populations with different disease rates.

Douroudis K, Laine AP, Heinonen M, Hermann R, Lipponen K, Veijola R, Simell O, Knip M, Uibo R, Ilonen J, Kisand K.

Hum Immunol. 2009 Jul;70(7):536-9. doi: 10.1016/j.humimm.2009.04.023. Epub 2009 Apr 17.

PMID:
19376178
26.

Cytotoxic T-lymphocyte antigen 4 gene polymorphisms are associated with latent autoimmune diabetes in adults.

Douroudis K, Prans E, Kisand K, Nemvalts V, Uibo R.

Clin Chim Acta. 2009 May;403(1-2):226-8. doi: 10.1016/j.cca.2009.03.036. Epub 2009 Mar 28.

PMID:
19332045
27.

Protein tyrosine phosphatase non-receptor type 22 gene variants at position 1858 are associated with type 1 and type 2 diabetes in Estonian population.

Douroudis K, Prans E, Haller K, Nemvalts V, Rajasalu T, Tillmann V, Kisand K, Uibo R.

Tissue Antigens. 2008 Nov;72(5):425-30. doi: 10.1111/j.1399-0039.2008.01115.x. Epub 2008 Aug 26.

PMID:
18764813
28.

HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population.

Douroudis K, Tarassi K, Athanassiades T, Giannakopoulos F, Kominakis A, Thalassinos N, Papasteriades Ch.

Tissue Antigens. 2007 Jun;69(6):592-6.

PMID:
17498269
29.

Association of vitamin D receptor gene polymorphisms with bone mineral density in postmenopausal women of Hellenic origin.

Douroudis K, Tarassi K, Ioannidis G, Giannakopoulos F, Moutsatsou P, Thalassinos N, Papasteriades C.

Maturitas. 2003 Jul 25;45(3):191-7.

PMID:
12818464

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