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Items: 34

1.

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.

Fadista J, Skotte L, Geller F, Bybjerg-Grauholm J, Gørtz S, Romitti PA, Caggana M, Kay DM, Matsson H, Boyd HA, Hougaard DM, Nordenskjöld A, Mills JL, Melbye M, Feenstra B.

Hum Mol Genet. 2019 Jan 15;28(2):332-340. doi: 10.1093/hmg/ddy347.

2.

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort.

Arkani S, Cao J, Lundin J, Nilsson D, Källman T, Barker G, Holmdahl G, Clementsson Kockum C, Matsson H, Nordenskjöld A.

Hum Genome Var. 2018 Mar 29;5:18009. doi: 10.1038/hgv.2018.9. eCollection 2018.

3.

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

Fadista J, Lund M, Skotte L, Geller F, Nandakumar P, Chatterjee S, Matsson H, Granström AL, Wester T, Salo P, Virtanen V, Carstensen L, Bybjerg-Grauholm J, Hougaard DM, Pakarinen M, Perola M, Nordenskjöld A, Chakravarti A, Melbye M, Feenstra B.

Eur J Hum Genet. 2018 Apr;26(4):561-569. doi: 10.1038/s41431-017-0053-7. Epub 2018 Jan 29.

PMID:
29379196
4.

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E, Peyrard-Janvid M, Darki F, Tuulari JJ, Merisaari H, Karlsson L, Scheinin NM, Saunavaara J, Parkkola R, Kantojärvi K, Ämmälä AJ, Yiu-Lin Yu N, Matsson H, Nopola-Hemmi J, Karlsson H, Paunio T, Klingberg T, Leinonen E, Kere J.

Sci Rep. 2017 Aug 24;7(1):9294. doi: 10.1038/s41598-017-10175-7.

5.

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.

Matsson H, Söderhäll C, Einarsdottir E, Lamontagne M, Gudmundsson S, Backman H, Lindberg A, Rönmark E, Kere J, Sin D, Postma DS, Bossé Y, Lundbäck B, Klar J.

BMC Pulm Med. 2016 Nov 11;16(1):146.

6.

Human ROBO1 regulates white matter structure in corpus callosum.

Darki F, Massinen S, Salmela E, Matsson H, Peyrard-Janvid M, Klingberg T, Kere J.

Brain Struct Funct. 2017 Mar;222(2):707-716. doi: 10.1007/s00429-016-1240-y. Epub 2016 May 30.

7.

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

Einarsdottir E, Svensson I, Darki F, Peyrard-Janvid M, Lindvall JM, Ameur A, Jacobsson C, Klingberg T, Kere J, Matsson H.

Hum Genet. 2015 Nov;134(11-12):1239-48. doi: 10.1007/s00439-015-1602-1. Epub 2015 Sep 23.

8.

Variant Profiling of Candidate Genes in Pancreatic Ductal Adenocarcinoma.

Huang J, Löhr JM, Nilsson M, Segersvärd R, Matsson H, Verbeke C, Heuchel R, Kere J, Iafrate AJ, Zheng Z, Ye W.

Clin Chem. 2015 Nov;61(11):1408-16. doi: 10.1373/clinchem.2015.238543. Epub 2015 Sep 16.

9.

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.

Matsson H, Huss M, Persson H, Einarsdottir E, Tiraboschi E, Nopola-Hemmi J, Schumacher J, Neuhoff N, Warnke A, Lyytinen H, Schulte-Körne G, Nöthen MM, Leppänen PH, Peyrard-Janvid M, Kere J.

J Hum Genet. 2015 Jul;60(7):399-401. doi: 10.1038/jhg.2015.37. Epub 2015 Apr 16.

10.

High-throughput mutational screening adds clinically important information in myelodysplastic syndromes and secondary or therapy-related acute myeloid leukemia.

Karimi M, Nilsson C, Dimitriou M, Jansson M, Matsson H, Unneberg P, Lehmann S, Kere J, Hellström-Lindberg E.

Haematologica. 2015 Jun;100(6):e223-5. doi: 10.3324/haematol.2014.118034. Epub 2015 Mar 13. No abstract available.

11.

CTNND2-a candidate gene for reading problems and mild intellectual disability.

Hofmeister W, Nilsson D, Topa A, Anderlid BM, Darki F, Matsson H, Tapia Páez I, Klingberg T, Samuelsson L, Wirta V, Vezzi F, Kere J, Nordenskjöld M, Syk Lundberg E, Lindstrand A.

J Med Genet. 2015 Feb;52(2):111-22. doi: 10.1136/jmedgenet-2014-102757. Epub 2014 Dec 3.

PMID:
25473103
12.

DCDC2 polymorphism is associated with left temporoparietal gray and white matter structures during development.

Darki F, Peyrard-Janvid M, Matsson H, Kere J, Klingberg T.

J Neurosci. 2014 Oct 22;34(43):14455-62. doi: 10.1523/JNEUROSCI.1216-14.2014.

13.

Polymorphisms in the dopamine receptor 2 gene region influence improvements during working memory training in children and adolescents.

Söderqvist S, Matsson H, Peyrard-Janvid M, Kere J, Klingberg T.

J Cogn Neurosci. 2014 Jan;26(1):54-62. doi: 10.1162/jocn_a_00478. Epub 2013 Sep 3.

PMID:
24001007
14.

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure.

Scerri TS, Darki F, Newbury DF, Whitehouse AJ, Peyrard-Janvid M, Matsson H, Ang QW, Pennell CE, Ring S, Stein J, Morris AP, Monaco AP, Kere J, Talcott JB, Klingberg T, Paracchini S.

PLoS One. 2012;7(11):e50321. doi: 10.1371/journal.pone.0050321. Epub 2012 Nov 28.

15.

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
16.

Working memory brain activity and capacity link MAOA polymorphism to aggressive behavior during development.

Ziermans T, Dumontheil I, Roggeman C, Peyrard-Janvid M, Matsson H, Kere J, Klingberg T.

Transl Psychiatry. 2012 Feb 28;2:e85. doi: 10.1038/tp.2012.7.

17.

Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure.

Darki F, Peyrard-Janvid M, Matsson H, Kere J, Klingberg T.

Biol Psychiatry. 2012 Oct 15;72(8):671-6. doi: 10.1016/j.biopsych.2012.05.008. Epub 2012 Jun 9.

PMID:
22683091
18.

Dopamine, working memory, and training induced plasticity: implications for developmental research.

Söderqvist S, Bergman Nutley S, Peyrard-Janvid M, Matsson H, Humphreys K, Kere J, Klingberg T.

Dev Psychol. 2012 May;48(3):836-43. doi: 10.1037/a0026179. Epub 2011 Nov 21. Review.

PMID:
22103304
19.

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.

20.

Study of estrogen receptor-α and receptor-β gene polymorphisms on Alzheimer's disease.

Goumidi L, Dahlman-Wright K, Tapia-Paez I, Matsson H, Pasquier F, Amouyel P, Kere J, Lambert JC, Meirhaeghe A.

J Alzheimers Dis. 2011;26(3):431-9. doi: 10.3233/JAD-2011-110362.

PMID:
21673408
21.

Influence of the COMT genotype on working memory and brain activity changes during development.

Dumontheil I, Roggeman C, Ziermans T, Peyrard-Janvid M, Matsson H, Kere J, Klingberg T.

Biol Psychiatry. 2011 Aug 1;70(3):222-9. doi: 10.1016/j.biopsych.2011.02.027. Epub 2011 Apr 22.

PMID:
21514925
22.

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
23.

The SNAP25 gene is linked to working memory capacity and maturation of the posterior cingulate cortex during childhood.

Söderqvist S, McNab F, Peyrard-Janvid M, Matsson H, Humphreys K, Kere J, Klingberg T.

Biol Psychiatry. 2010 Dec 15;68(12):1120-5. doi: 10.1016/j.biopsych.2010.07.036. Epub 2010 Oct 15.

PMID:
20950795
24.

Multiple epiphyseal dysplasia.

Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH.

Acta Orthop. 2009 Dec;80(6):711-5. doi: 10.3109/17453670903473032.

25.

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
26.

Alpha-cardiac actin mutations produce atrial septal defects.

Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegårdh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N.

Hum Mol Genet. 2008 Jan 15;17(2):256-65. Epub 2007 Oct 18.

PMID:
17947298
27.

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.

Anthoni H, Zucchelli M, Matsson H, Müller-Myhsok B, Fransson I, Schumacher J, Massinen S, Onkamo P, Warnke A, Griesemann H, Hoffmann P, Nopola-Hemmi J, Lyytinen H, Schulte-Körne G, Kere J, Nöthen MM, Peyrard-Janvid M.

Hum Mol Genet. 2007 Mar 15;16(6):667-77. Epub 2007 Feb 19.

PMID:
17309879
28.

Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.

Matsson H, Davey EJ, Fröjmark AS, Miyake K, Utsugisawa T, Flygare J, Zahou E, Byman I, Landin B, Ronquist G, Karlsson S, Dahl N.

Blood Cells Mol Dis. 2006 Mar-Apr;36(2):259-64. Epub 2006 Feb 7.

PMID:
16458028
29.

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.

Entesarian M, Matsson H, Klar J, Bergendal B, Olson L, Arakaki R, Hayashi Y, Ohuchi H, Falahat B, Bolstad AI, Jonsson R, Wahren-Herlenius M, Dahl N.

Nat Genet. 2005 Feb;37(2):125-7. Epub 2005 Jan 16.

PMID:
15654336
30.

Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.

Flygare J, Kiefer T, Miyake K, Utsugisawa T, Hamaguchi I, Da Costa L, Richter J, Davey EJ, Matsson H, Dahl N, Wiznerowicz M, Trono D, Karlsson S.

Blood. 2005 Jun 15;105(12):4627-34. Epub 2004 Dec 30.

31.

Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.

Matsson H, Davey EJ, Draptchinskaia N, Hamaguchi I, Ooka A, Levéen P, Forsberg E, Karlsson S, Dahl N.

Mol Cell Biol. 2004 May;24(9):4032-7.

32.

Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene.

Gustavsson P, Klar J, Matsson H, Forestier E, Henter JI, Rao S, Seip M, Skeppner G, Dahl N.

Br J Haematol. 2002 Oct;119(1):261-4.

PMID:
12358933
33.

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.

Matsson H, Klar J, Draptchinskaia N, Gustavsson P, Carlsson B, Bowers D, de Bont E, Dahl N.

Hum Genet. 1999 Nov;105(5):496-500.

PMID:
10598818
34.

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N.

Nat Genet. 1999 Feb;21(2):169-75.

PMID:
9988267

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