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Items: 37

1.

Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder.

Tammimies K, Li D, Rabkina I, Stamouli S, Becker M, Nicolaou V, Berggren S, Coco C, Falkmer T, Jonsson U, Choque-Olsson N, Bölte S.

Sci Rep. 2019 Jul 8;9(1):9810. doi: 10.1038/s41598-019-46396-1.

2.

Genetic mechanisms of regression in autism spectrum disorder.

Tammimies K.

Neurosci Biobehav Rev. 2019 Jul;102:208-220. doi: 10.1016/j.neubiorev.2019.04.022. Epub 2019 May 3. Review.

PMID:
31059729
3.

Copy number variation and neuropsychiatric problems in females and males in the general population.

Martin J, Tammimies K, Karlsson R, Lu Y, Larsson H, Lichtenstein P, Magnusson PKE.

Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):341-350. doi: 10.1002/ajmg.b.32685. Epub 2018 Oct 11.

PMID:
30307693
4.

Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes.

Tervaniemi MH, Katayama S, Skoog T, Siitonen HA, Vuola J, Nuutila K, Tammimies K, Suomela S, Kankuri E, Kere J, Elomaa O.

BMC Genomics. 2018 Jun 4;19(1):432. doi: 10.1186/s12864-018-4810-y.

5.

Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder.

Curtin P, Austin C, Curtin A, Gennings C, Arora M; (for the Emergent Dynamical Systems Group), Tammimies K, Willfors C, Berggren S, Siper P, Rai D, Meyering K, Kolevzon A, Mollon J, David AS, Lewis G, Zammit S, Heilbrun L, Palmer RF, Wright RO, Bölte S, Reichenberg A.

Sci Adv. 2018 May 30;4(5):eaat1293. doi: 10.1126/sciadv.aat1293. eCollection 2018 May.

6.

Enrichment of rare copy number variation in children with developmental language disorder.

Kalnak N, Stamouli S, Peyrard-Janvid M, Rabkina I, Becker M, Klingberg T, Kere J, Forssberg H, Tammimies K.

Clin Genet. 2018 Oct;94(3-4):313-320. doi: 10.1111/cge.13389. Epub 2018 Jun 25.

PMID:
29851021
7.

Long-term social skills group training for children and adolescents with autism spectrum disorder: a randomized controlled trial.

Jonsson U, Olsson NC, Coco C, Görling A, Flygare O, Råde A, Chen Q, Berggren S, Tammimies K, Bölte S.

Eur Child Adolesc Psychiatry. 2019 Feb;28(2):189-201. doi: 10.1007/s00787-018-1161-9. Epub 2018 May 10.

8.

2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study.

Myers L, Van't Westeinde A, Kuja-Halkola R, Tammimies K, Bölte S.

J Autism Dev Disord. 2018 Sep;48(9):3244-3252. doi: 10.1007/s10803-018-3588-8.

9.

EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort.

Isaksson J, Tammimies K, Neufeld J, Cauvet É, Lundin K, Buitelaar JK, Loth E, Murphy DGM, Spooren W, Bölte S; EU-AIMS LEAP group.

Mol Autism. 2018 Apr 13;9:26. doi: 10.1186/s13229-018-0212-x. eCollection 2018.

10.

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.

Stamouli S, Anderlid BM, Willfors C, Thiruvahindrapuram B, Wei J, Berggren S, Nordgren A, Scherer SW, Lichtenstein P, Tammimies K, Bölte S.

Twin Res Hum Genet. 2018 Feb;21(1):1-11. doi: 10.1017/thg.2017.69. Epub 2018 Jan 8.

PMID:
29307321
11.

Minor physical anomalies in neurodevelopmental disorders: a twin study.

Myers L, Anderlid BM, Nordgren A, Willfors C, Kuja-Halkola R, Tammimies K, Bölte S.

Child Adolesc Psychiatry Ment Health. 2017 Nov 28;11:57. doi: 10.1186/s13034-017-0195-y. eCollection 2017.

12.

Recurrence quantification analysis to characterize cyclical components of environmental elemental exposures during fetal and postnatal development.

Curtin P, Curtin A, Austin C, Gennings C, Tammimies K, Bölte S, Arora M.

PLoS One. 2017 Nov 7;12(11):e0187049. doi: 10.1371/journal.pone.0187049. eCollection 2017.

13.

Social Skills Training for Children and Adolescents With Autism Spectrum Disorder: A Randomized Controlled Trial.

Choque Olsson N, Flygare O, Coco C, Görling A, Råde A, Chen Q, Lindstedt K, Berggren S, Serlachius E, Jonsson U, Tammimies K, Kjellin L, Bölte S.

J Am Acad Child Adolesc Psychiatry. 2017 Jul;56(7):585-592. doi: 10.1016/j.jaac.2017.05.001. Epub 2017 May 10.

14.

Fetal and postnatal metal dysregulation in autism.

Arora M, Reichenberg A, Willfors C, Austin C, Gennings C, Berggren S, Lichtenstein P, Anckarsäter H, Tammimies K, Bölte S.

Nat Commun. 2017 Jun 1;8:15493. doi: 10.1038/ncomms15493.

15.

Derivation of human iPS cell lines from monozygotic twins in defined and xeno free conditions.

Uhlin E, Rönnholm H, Day K, Kele M, Tammimies K, Bölte S, Falk A.

Stem Cell Res. 2017 Jan;18:22-25. doi: 10.1016/j.scr.2016.12.006. Epub 2016 Dec 9.

16.

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.

Marschik PB, Pokorny FB, Peharz R, Zhang D, O'Muircheartaigh J, Roeyers H, Bölte S, Spittle AJ, Urlesberger B, Schuller B, Poustka L, Ozonoff S, Pernkopf F, Pock T, Tammimies K, Enzinger C, Krieber M, Tomantschger I, Bartl-Pokorny KD, Sigafoos J, Roche L, Esposito G, Gugatschka M, Nielsen-Saines K, Einspieler C, Kaufmann WE; BEE-PRI Study Group.

Curr Neurol Neurosci Rep. 2017 May;17(5):43. doi: 10.1007/s11910-017-0748-8. Review.

17.

Medical history of discordant twins and environmental etiologies of autism.

Willfors C, Carlsson T, Anderlid BM, Nordgren A, Kostrzewa E, Berggren S, Ronald A, Kuja-Halkola R, Tammimies K, Bölte S.

Transl Psychiatry. 2017 Jan 31;7(1):e1014. doi: 10.1038/tp.2016.269.

18.

Genome-wide characteristics of de novo mutations in autism.

Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW.

NPJ Genom Med. 2016 Aug 3;1:160271-1602710.

19.

Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.

Tammimies K, Bieder A, Lauter G, Sugiaman-Trapman D, Torchet R, Hokkanen ME, Burghoorn J, Castrén E, Kere J, Tapia-Páez I, Swoboda P.

FASEB J. 2016 Oct;30(10):3578-3587. Epub 2016 Jul 22.

20.

Quo Vadis clinical genomics of ASD?

Tammimies K, Falck-Ytter T, Bölte S.

Autism. 2016 Apr;20(3):259-61. No abstract available.

PMID:
27437550
21.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW.

Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663.

22.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D'Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA.

JAMA. 2015 Sep 1;314(9):895-903. doi: 10.1001/jama.2015.10078.

PMID:
26325558
23.

Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder.

Liu Y, Zhang Y, Zhao D, Dong R, Yang X, Tammimies K, Uddin M, Scherer SW, Gai Z.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jun;168B(4):258-64. doi: 10.1002/ajmg.b.32306. Epub 2015 Apr 29.

PMID:
25921429
24.

De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.

Liu Y, Zhao D, Dong R, Yang X, Zhang Y, Tammimies K, Uddin M, Scherer SW, Gai Z.

Am J Med Genet A. 2015 Jun;167(6):1381-5. doi: 10.1002/ajmg.a.37050. Epub 2015 Apr 6.

PMID:
25851617
25.

Whole-genome sequencing of quartet families with autism spectrum disorder.

Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D'Abate L, Deneault E, Howe JL, Liu RS, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray PN, Weksberg R, Carter MT, Fernandez BA, Roberts W, Szatmari P, Scherer SW.

Nat Med. 2015 Feb;21(2):185-91. doi: 10.1038/nm.3792. Epub 2015 Jan 26.

PMID:
25621899
26.

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.

Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O'Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, Yuen RK, Uddin M, Howe JL, Parlier M, Whitten K, Szatmari P, Vieland VJ, Piven J, Scherer SW.

Hum Genet. 2015 Feb;134(2):191-201. doi: 10.1007/s00439-014-1513-6. Epub 2014 Nov 29.

PMID:
25432440
27.

Synaptic, transcriptional and chromatin genes disrupted in autism.

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD.

Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29.

28.

Copy number variation in Han Chinese individuals with autism spectrum disorder.

Gazzellone MJ, Zhou X, Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, Sun C, Wang J, Zou M, Tammimies K, Walker S, Selvanayagam T, Wei J, Wang Z, Wu L, Scherer SW.

J Neurodev Disord. 2014;6(1):34. doi: 10.1186/1866-1955-6-34. Epub 2014 Aug 23.

29.

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RK, Scherer SW.

Nat Genet. 2014 Jul;46(7):742-7. doi: 10.1038/ng.2980. Epub 2014 May 25.

PMID:
24859339
30.

The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

Bölte S, Willfors C, Berggren S, Norberg J, Poltrago L, Mevel K, Coco C, Fransson P, Borg J, Sitnikov R, Toro R, Tammimies K, Anderlid BM, Nordgren A, Falk A, Meyer U, Kere J, Landén M, Dalman C, Ronald A, Anckarsäter H, Lichtenstein P.

Twin Res Hum Genet. 2014 Jun;17(3):164-76. doi: 10.1017/thg.2014.12. Epub 2014 Apr 15.

PMID:
24735654
31.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

32.

Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins.

Tammimies K, Vitezic M, Matsson H, Le Guyader S, Bürglin TR, Ohman T, Strömblad S, Daub CO, Nyman TA, Kere J, Tapia-Páez I.

Biol Psychiatry. 2013 Mar 15;73(6):583-90. doi: 10.1016/j.biopsych.2012.08.012. Epub 2012 Oct 1.

PMID:
23036959
33.

The rs3743205 SNP is important for the regulation of the dyslexia candidate gene DYX1C1 by estrogen receptor β and DNA methylation.

Tammimies K, Tapia-Páez I, Rüegg J, Rosin G, Kere J, Gustafsson JÅ, Nalvarte I.

Mol Endocrinol. 2012 Apr;26(4):619-29. doi: 10.1210/me.2011-1376. Epub 2012 Mar 1.

34.

Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons.

Massinen S, Hokkanen ME, Matsson H, Tammimies K, Tapia-Páez I, Dahlström-Heuser V, Kuja-Panula J, Burghoorn J, Jeppsson KE, Swoboda P, Peyrard-Janvid M, Toftgård R, Castrén E, Kere J.

PLoS One. 2011;6(6):e20580. doi: 10.1371/journal.pone.0020580. Epub 2011 Jun 16.

35.

SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations.

Matsson H, Tammimies K, Zucchelli M, Anthoni H, Onkamo P, Nopola-Hemmi J, Lyytinen H, Leppanen PH, Neuhoff N, Warnke A, Schulte-Körne G, Schumacher J, Nöthen MM, Kere J, Peyrard-Janvid M.

Behav Genet. 2011 Jan;41(1):134-40. doi: 10.1007/s10519-010-9431-4. Epub 2011 Jan 4.

PMID:
21203819
36.

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia.

Massinen S, Tammimies K, Tapia-Páez I, Matsson H, Hokkanen ME, Söderberg O, Landegren U, Castrén E, Gustafsson JA, Treuter E, Kere J.

Hum Mol Genet. 2009 Aug 1;18(15):2802-12. doi: 10.1093/hmg/ddp215. Epub 2009 May 7.

PMID:
19423554
37.

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia.

Tapia-Páez I, Tammimies K, Massinen S, Roy AL, Kere J.

FASEB J. 2008 Aug;22(8):3001-9. doi: 10.1096/fj.07-104455. Epub 2008 Apr 29.

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