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Items: 1 to 50 of 76

1.

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE.

Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040.

PMID:
28335020
2.

Improvement in the transport critical current density and microstructure of isotopic Mg11B2 monofilament wires by optimizing the sintering temperature.

Qiu W, Jie H, Patel D, Lu Y, Luzin V, Devred A, Somer M, Shahabuddin M, Kim JH, Ma Z, Dou SX, Hossain MS.

Sci Rep. 2016 Nov 8;6:36660. doi: 10.1038/srep36660.

3.

Improved Superconducting properties in the Mg(11)B2 low activation superconductor prepared by low-temperature sintering.

Cheng F, Liu Y, Ma Z, Shahriar Al Hossain M, Somer M.

Sci Rep. 2016 May 5;6:25498. doi: 10.1038/srep25498.

4.

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

Muona M, Fukata Y, Anttonen AK, Laari A, Palotie A, Pihko H, Lönnqvist T, Valanne L, Somer M, Fukata M, Lehesjoki AE.

Neurol Genet. 2016 Jan 21;2(1):e46. doi: 10.1212/NXG.0000000000000046. eCollection 2016 Feb.

5.

Opioid Modulation With Buprenorphine/Samidorphan as Adjunctive Treatment for Inadequate Response to Antidepressants: A Randomized Double-Blind Placebo-Controlled Trial.

Fava M, Memisoglu A, Thase ME, Bodkin JA, Trivedi MH, de Somer M, Du Y, Leigh-Pemberton R, DiPetrillo L, Silverman B, Ehrich E.

Am J Psychiatry. 2016 May 1;173(5):499-508. doi: 10.1176/appi.ajp.2015.15070921. Epub 2016 Feb 12.

PMID:
26869247
6.

Report from AmSECT's International Consortium for Evidence- Based Perfusion Consensus Statement: Minimal Criteria for Reporting Cardiopulmonary Bypass-Related Contributions to Red Blood Cell Transfusions Associated With Adult Cardiac Surgery.

Likosky DS, Baker RA, Dickinson TA, FitzGerald DJ, De Somer MF, Groom RC, FitzGerald D, Shann KG, Poullis M, Spiess BD, Jabr K, Lucas MT, Ferguson JD, Bronson SL.

J Extra Corpor Technol. 2015 Jun;47(2):83-9. Erratum in: J Extra Corpor Technol. 2015 Dec;47(4):251.

7.

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H.

Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26.

8.

[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].

Arvio M, Philips AK, Ahvenainen M, Somer M, Kalscheuer V, Järvelä I.

Duodecim. 2014;130(21):2202-5. Finnish.

PMID:
25582014
9.

Variants in CUL4B are associated with cerebral malformations.

Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP.

Hum Mutat. 2015 Jan;36(1):106-17. doi: 10.1002/humu.22718.

10.

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kääriäinen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Järvelä I.

Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49.

11.

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Auranen M, Ylikallio E, Toppila J, Somer M, Kiuru-Enari S, Tyynismaa H.

Neurogenetics. 2013 May;14(2):123-32. doi: 10.1007/s10048-013-0358-9. Epub 2013 Mar 3.

PMID:
23456260
12.

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.

Avela K, Aktan-Collan K, Horelli-Kuitunen N, Knuutila S, Somer M.

Am J Med Genet A. 2011 Apr;155A(4):875-9. doi: 10.1002/ajmg.a.33944. Epub 2011 Mar 15.

PMID:
21595003
13.

Defect structure in aliovalently-doped and isovalently-substituted PbTiO3 nano-powders.

Erdem E, Jakes P, Parashar SK, Kiraz K, Somer M, Rüdiger A, Eichel RA.

J Phys Condens Matter. 2010 Sep 1;22(34):345901. doi: 10.1088/0953-8984/22/34/345901. Epub 2010 Aug 3. Erratum in: J Phys Condens Matter. 2010 Oct 6 ;22(39):399804.

PMID:
21403264
14.

A new distal myopathy with mutation in anoctamin 5.

Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R.

Neuromuscul Disord. 2010 Dec;20(12):791-5. doi: 10.1016/j.nmd.2010.07.270. Epub 2010 Aug 7.

15.

Cerebellar hypoplasia and Cohen syndrome: a confirmed association.

Waite A, Somer M, O'Driscoll M, Millen K, Manson FD, Chandler KE.

Am J Med Genet A. 2010 Sep;152A(9):2390-3. doi: 10.1002/ajmg.a.33569. No abstract available.

PMID:
20683995
16.

[Treatment of cleft lip and palate in Finland].

Rautio J, Somer M, Pettay M, Klockars T, Elfving-Little U, Hölttä E, Heliövaara A.

Duodecim. 2010;126(11):1286-94. Finnish.

PMID:
20681351
17.

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.

Saarinen A, Saukkonen T, Kivelä T, Lahtinen U, Laine C, Somer M, Toiviainen-Salo S, Cole WG, Lehesjoki AE, Mäkitie O.

Clin Endocrinol (Oxf). 2010 Apr;72(4):481-8. doi: 10.1111/j.1365-2265.2009.03680.x. Epub 2009 Aug 5.

PMID:
19673927
18.

Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations.

Dostal A, Linnankivi T, Somer M, Kähkönen M, Litzman J, Tienari P.

Int J Immunogenet. 2007 Jun;34(3):143-7.

PMID:
17504501
19.
20.

Synthesis, characterization and antimicrobial activity of Fe(II), Zn(II), Cd(II) and Hg(II) complexes with 2,6-bis(benzimidazol-2-yl) pyridine ligand.

Aghatabay NM, Neshat A, Karabiyik T, Somer M, Haciu D, Dülger B.

Eur J Med Chem. 2007 Feb;42(2):205-13. Epub 2006 Dec 26.

PMID:
17189664
21.

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H.

Am J Med Genet A. 2006 Feb 15;140(4):331-9.

PMID:
16419126
22.

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE.

Nat Genet. 2005 Dec;37(12):1309-11. Epub 2005 Nov 13.

PMID:
16282978
23.

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.

Mahjneh I, Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H, Udd B.

J Neurol. 2006 Mar;253(3):301-6. Epub 2005 Sep 15.

PMID:
16151599
24.

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E.

Acta Ophthalmol Scand. 2005 Jun;83(3):337-46.

25.

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S.

Am J Med Genet A. 2005 Jun 15;135(3):251-62.

PMID:
15884042
26.

A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

Painter JN, Tapanainen H, Somer M, Tukiainen P, Aittomäki K.

Am J Hum Genet. 2005 Mar;76(3):522-7. Epub 2005 Jan 18.

27.

Bilateral cleft lip and palate, hypertelorism and hypoplastic toes.

Kajantie E, Somer M.

Clin Dysmorphol. 2004 Jul;13(3):195-6.

PMID:
15194960
28.

A syndrome with multiple malformations, mental retardation, and ACTH deficiency.

Kajantie E, Otonkoski T, Kivirikko S, Somer M.

Am J Med Genet A. 2004 Apr 30;126A(3):313-8.

PMID:
15054849
29.

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.

Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P.

Am J Hum Genet. 2004 May;74(5):1043-50. Epub 2004 Mar 23.

30.

Ae[Be2N2]: nitridoberyllates of the heavier alkaline-earth metals.

Somer M, Yarasik A, Akselrud L, Leoni S, Rosner H, Schnelle W, Kniep R.

Angew Chem Int Ed Engl. 2004 Feb 20;43(9):1088-92. No abstract available.

PMID:
14983441
31.

Neuropsychological functions in variant Alzheimer's disease with spastic paraparesis.

Verkkoniemi A, Ylikoski R, Rinne JO, Somer M, Hietaharju A, Erkinjuntti T, Viitanen M, Kalimo H, Haltia M.

J Neurol Sci. 2004 Mar 15;218(1-2):29-37.

PMID:
14759630
32.

18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images.

Linnankivi TT, Autti TH, Pihko SH, Somer MS, Tienari PJ, Wirtavuori KO, Valanne LK.

J Magn Reson Imaging. 2003 Oct;18(4):414-9.

PMID:
14508777
33.

Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.

Höglund P, Kurotaki N, Kytölä S, Miyake N, Somer M, Matsumoto N.

J Med Genet. 2003 Jan;40(1):51-4. No abstract available.

34.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.

Hum Genet. 2002 Oct;111(4-5):421-7. Epub 2002 Aug 24. Review.

PMID:
12384786
35.

Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility.

Malm H, Kajantie E, Kivirikko S, Kääriäinen H, Peippo M, Somer M.

Neurology. 2002 Aug 27;59(4):630-3.

PMID:
12196666
36.

Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.

Vanhatalo S, Somer M, Barth PG.

Neuropediatrics. 2002 Apr;33(2):100-4.

PMID:
12075493
37.

[New variant of Alzheimer's disease].

Verkkoniemi A, Somer M, Haltia M.

Duodecim. 1998;114(24):2509-11. Finnish. No abstract available.

PMID:
11757118
38.

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.

Verkkoniemi A, Kalimo H, Paetau A, Somer M, Iwatsubo T, Hardy J, Haltia M.

J Neuropathol Exp Neurol. 2001 May;60(5):483-92.

PMID:
11379823
39.

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.

Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T.

Ann Neurol. 2000 Nov;48(5):806-8.

PMID:
11079548
40.

Influence of hydroxychloroquine on the bioavailability of oral metoprolol.

Somer M, Kallio J, Pesonen U, Pyykkö K, Huupponen R, Scheinin M.

Br J Clin Pharmacol. 2000 Jun;49(6):549-54.

41.

Variant Alzheimer's disease with spastic paraparesis: clinical characterization.

Verkkoniemi A, Somer M, Rinne JO, Myllykangas L, Crook R, Hardy J, Viitanen M, Kalimo H, Haltia M.

Neurology. 2000 Mar 14;54(5):1103-9.

PMID:
10720282
43.

Alzheimer disease PS-1 exon 9 deletion defined.

Prihar G, Verkkoniem A, Perez-Tur J, Crook R, Lincoln S, Houlden H, Somer M, Paetau A, Kalimo H, Grover A, Myllykangas L, Hutton M, Hardy J, Haltia M.

Nat Med. 1999 Oct;5(10):1090. No abstract available.

PMID:
10502791
44.

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L.

Am J Hum Genet. 1999 Oct;65(4):974-83.

45.

Extensive cerebral white matter abnormality without clinical symptoms: a new hereditary condition?

Autti T, Muttilainen M, Raininko R, Heiskala H, Puranen J, Häkkinen AM, Tienari P, Santavuori P, Suominen P, Somer M.

Ann Neurol. 1999 Jun;45(6):801-5.

PMID:
10360775
46.

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

Huopaniemi L, Rantala A, Forsius H, Somer M, de la Chapelle A, Alitalo T.

Eur J Hum Genet. 1999 Apr;7(3):368-76.

47.

The Cluster Anion Si94.

von Schnering HG, Somer M, Kaupp M, Carrillo-Cabrera W, Baitinger M, Schmeding A, Grin Y.

Angew Chem Int Ed Engl. 1998 Sep 18;37(17):2359-2361. doi: 10.1002/(SICI)1521-3773(19980918)37:17<2359::AID-ANIE2359>3.0.CO;2-G.

PMID:
29710951
48.

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, Pöyhönen M, Kucera S, Haltia M.

Nat Med. 1998 Apr;4(4):452-5.

PMID:
9546792
49.

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.

Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, Keinänen M, McDonald-McGinn D, Somer M, Spinner N, Yang-Feng T, Zackai E, Altherr MR.

Hum Mol Genet. 1997 Feb;6(2):317-24.

PMID:
9063753
50.

[CATCH-22: a microdeletion of chromosome 22 behind the polymorphous syndrome].

Somer M, Ignatius J, Vehmanen P, Keinänen M, Haapanen ML.

Duodecim. 1997;113(12):1115-22. Review. Finnish. No abstract available.

PMID:
11466836

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