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Items: 1 to 20 of 90

1.

Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis.

International Multiple Sclerosis Genetics Consortium.

Nat Commun. 2019 Jul 1;10(1):2956. doi: 10.1038/s41467-019-10951-1.

2.

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.

International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu; International Multiple Sclerosis Genetics Consortium.

Cell. 2019 Jun 27;178(1):262. doi: 10.1016/j.cell.2019.06.016. No abstract available.

3.

A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis.

International Multiple Sclerosis Genetics Consortium.

Nat Commun. 2019 May 20;10(1):2236. doi: 10.1038/s41467-019-09773-y. Erratum in: Nat Commun. 2019 Jul 1;10(1):2956.

4.

A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature.

Honkila M, Niinimäki R, Taskinen M, Kuismin O, Kettunen K, Saarela J, Turunen S, Renko M, Tapiainen T.

BMC Infect Dis. 2019 May 10;19(1):404. doi: 10.1186/s12879-019-4022-3. Review.

5.

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

Hakonen AH, Polvi A, Saloranta C, Paetau A, Heikkilä P, Almusa H, Ellonen P, Jakkula E, Saarela J, Aittomäki K.

Am J Med Genet A. 2019 Jul;179(7):1362-1365. doi: 10.1002/ajmg.a.61186. Epub 2019 May 6.

PMID:
31059209
6.

Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients.

Cardamone G, Paraboschi EM, Soldà G, Duga S, Saarela J, Asselta R.

Biomedicines. 2018 Dec 18;6(4). pii: E117. doi: 10.3390/biomedicines6040117.

7.

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation.

Rajamäki K, Keskitalo S, Seppänen M, Kuismin O, Vähäsalo P, Trotta L, Väänänen A, Glumoff V, Keskitalo P, Kaarteenaho R, Jartti A, Hautala N, Jackson P, Nordström DC, Saarela J, Hautala T, Eklund KK, Varjosalo M.

RMD Open. 2018 Oct 17;4(2):e000740. doi: 10.1136/rmdopen-2018-000740. eCollection 2018.

8.

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.

International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu; International Multiple Sclerosis Genetics Consortium.

Cell. 2018 Nov 29;175(6):1679-1687.e7. doi: 10.1016/j.cell.2018.09.049. Epub 2018 Oct 18.

9.

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.

Trotta L, Norberg A, Taskinen M, Béziat V, Degerman S, Wartiovaara-Kautto U, Välimaa H, Jahnukainen K, Casanova JL, Seppänen M, Saarela J, Koskenvuo M, Martelius T.

Orphanet J Rare Dis. 2018 Aug 17;13(1):139. doi: 10.1186/s13023-018-0864-9.

10.

Germline alterations in a consecutive series of acute myeloid leukemia.

Wartiovaara-Kautto U, Hirvonen EAM, Pitkänen E, Heckman C, Saarela J, Kettunen K, Porkka K, Kilpivaara O.

Leukemia. 2018 Oct;32(10):2282-2285. doi: 10.1038/s41375-018-0049-5. Epub 2018 Apr 10. No abstract available.

PMID:
29632341
11.

ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.

Trotta L, Martelius T, Siitonen T, Hautala T, Hämäläinen S, Juntti H, Taskinen M, Ilander M, Andersson EI, Zavialov A, Kaustio M, Keski-Filppula R, Hershfield M, Mustjoki S, Tapiainen T, Seppänen M, Saarela J.

J Allergy Clin Immunol. 2018 Apr;141(4):1534-1537.e8. doi: 10.1016/j.jaci.2018.01.012. Epub 2018 Jan 31. No abstract available.

PMID:
29391253
12.

Who would benefit from exome sequencing?

Saarela J, Kettunen K.

Duodecim. 2017;133(5):481-8.

PMID:
29205997
13.

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland.

Selenius JS, Martelius T, Pikkarainen S, Siitonen S, Mattila E, Pietikäinen R, Suomalainen P, Aalto AH, Saarela J, Einarsdottir E, Järvinen A, Färkkilä M, Kere J, Seppänen M.

Front Immunol. 2017 Sep 28;8:1190. doi: 10.3389/fimmu.2017.01190. eCollection 2017.

14.

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Hashem H, Kumar AR, Müller I, Babor F, Bredius R, Dalal J, Hsu AP, Holland SM, Hickstein DD, Jolles S, Krance R, Sasa G, Taskinen M, Koskenvuo M, Saarela J, van Montfrans J, Wilson K, Bosch B, Moens L, Hershfield M, Meyts I; Deficiency of Adenosine Deaminase Type 2 Foundation.

Blood. 2017 Dec 14;130(24):2682-2688. doi: 10.1182/blood-2017-07-798660. Epub 2017 Oct 3.

15.

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.

Kaustio M, Haapaniemi E, Göös H, Hautala T, Park G, Syrjänen J, Einarsdottir E, Sahu B, Kilpinen S, Rounioja S, Fogarty CL, Glumoff V, Kulmala P, Katayama S, Tamene F, Trotta L, Morgunova E, Krjutškov K, Nurmi K, Eklund K, Lagerstedt A, Helminen M, Martelius T, Mustjoki S, Taipale J, Saarela J, Kere J, Varjosalo M, Seppänen M.

J Allergy Clin Immunol. 2017 Sep;140(3):782-796. doi: 10.1016/j.jaci.2016.10.054. Epub 2017 Jan 21.

PMID:
28115215
16.

NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk.

International Multiple Sclerosis Genetics Consortium. Electronic address: cotsapas@broadinstitute.org; International Multiple Sclerosis Genetics Consortium.

Neuron. 2016 Oct 19;92(2):333-335. doi: 10.1016/j.neuron.2016.09.052. Erratum in: Neuron. 2016 Nov 23;92(4):929.

17.

Erratum: Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis.

Sieberts SK, Zhu F, García-García J, Stahl E, Pratap A, Pandey G, Pappas D, Aguilar D, Anton B, Bonet J, Eksi R, Fornés O, Guney E, Li H, Marín MA, Panwar B, Planas-Iglesias J, Poglayen D, Cui J, Falcao AO, Suver C, Hoff B, Balagurusamy VSK, Dillenberger D, Neto EC, Norman T, Aittokallio T, Ammad-Ud-Din M, Azencott CA, Bellón V, Boeva V, Bunte K, Chheda H, Cheng L, Corander J, Dumontier M, Goldenberg A, Gopalacharyulu P, Hajiloo M, Hidru D, Jaiswal A, Kaski S, Khalfaoui B, Khan SA, Kramer ER, Marttinen P, Mezlini AM, Molparia B, Pirinen M, Saarela J, Samwald M, Stoven V, Tang H, Tang J, Torkamani A, Vert JP, Wang B, Wang T, Wennerberg K, Wineinger NE, Xiao G, Xie Y, Yeung R, Zhan X, Zhao C; Members of the Rheumatoid Arthritis Challenge Consortium, Greenberg J, Kremer J, Michaud K, Barton A, Coenen M, Mariette X, Miceli C, Shadick N, Weinblatt M, de Vries N, Tak PP, Gerlag D, Huizinga TWJ, Kurreeman F, Allaart CF, Bridges SL Jr, Criswell L, Moreland L, Klareskog L, Saevarsdottir S, Padyukov L, Gregersen PK, Friend S, Plenge R, Stolovitzky G, Oliva B, Guan Y, Mangravite LM.

Nat Commun. 2016 Oct 10;7:13205. doi: 10.1038/ncomms13205. No abstract available.

18.

Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis.

Sieberts SK, Zhu F, García-García J, Stahl E, Pratap A, Pandey G, Pappas D, Aguilar D, Anton B, Bonet J, Eksi R, Fornés O, Guney E, Li H, Marín MA, Panwar B, Planas-Iglesias J, Poglayen D, Cui J, Falcao AO, Suver C, Hoff B, Balagurusamy VSK, Dillenberger D, Neto EC, Norman T, Aittokallio T, Ammad-Ud-Din M, Azencott CA, Bellón V, Boeva V, Bunte K, Chheda H, Cheng L, Corander J, Dumontier M, Goldenberg A, Gopalacharyulu P, Hajiloo M, Hidru D, Jaiswal A, Kaski S, Khalfaoui B, Khan SA, Kramer ER, Marttinen P, Mezlini AM, Molparia B, Pirinen M, Saarela J, Samwald M, Stoven V, Tang H, Tang J, Torkamani A, Vert JP, Wang B, Wang T, Wennerberg K, Wineinger NE, Xiao G, Xie Y, Yeung R, Zhan X, Zhao C; Members of the Rheumatoid Arthritis Challenge Consortium, Greenberg J, Kremer J, Michaud K, Barton A, Coenen M, Mariette X, Miceli C, Shadick N, Weinblatt M, de Vries N, Tak PP, Gerlag D, Huizinga TWJ, Kurreeman F, Allaart CF, Louis Bridges S Jr, Criswell L, Moreland L, Klareskog L, Saevarsdottir S, Padyukov L, Gregersen PK, Friend S, Plenge R, Stolovitzky G, Oliva B, Guan Y, Mangravite LM.

Nat Commun. 2016 Aug 23;7:12460. doi: 10.1038/ncomms12460. Erratum in: Nat Commun. 2016 Oct 10;7:13205.

19.

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland.

Trotta L, Hautala T, Hämäläinen S, Syrjänen J, Viskari H, Almusa H, Lepisto M, Kaustio M, Porkka K, Palotie A, Seppänen M, Saarela J.

Eur J Hum Genet. 2016 Oct;24(10):1473-8. doi: 10.1038/ejhg.2016.37. Epub 2016 May 4.

20.

Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: A 20-year follow-up.

Outinen T, Syrjänen J, Rounioja S, Saarela J, Kaustio M, Helminen M.

Clin Immunol. 2016 Apr;165:19-20. doi: 10.1016/j.clim.2016.02.002. Epub 2016 Feb 6. No abstract available.

PMID:
26861442

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