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Items: 1 to 50 of 80

1.

HTT haplogroups in Finnish patients with Huntington disease.

Ylönen S, Sipilä JOT, Hietala M, Majamaa K.

Neurol Genet. 2019 Apr 22;5(3):e334. doi: 10.1212/NXG.0000000000000334. eCollection 2019 Jun.

2.

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E.

JCI Insight. 2019 Feb 7;4(3). pii: 124701. doi: 10.1172/jci.insight.124701. [Epub ahead of print]

3.

Neuromyelitis optica spectrum disorder with increased aquaporin-4 microparticles prior to autoantibodies in cerebrospinal fluid: a case report.

Bejerot S, Hesselmark E, Mobarrez F, Wallén H, Hietala MA, Nybom R, Wetterberg L.

J Med Case Rep. 2019 Jan 30;13(1):27. doi: 10.1186/s13256-018-1929-z.

4.

Potential of municipal solid waste paper as raw material for production of cellulose nanofibres.

Hietala M, Varrio K, Berglund L, Soini J, Oksman K.

Waste Manag. 2018 Oct;80:319-326. doi: 10.1016/j.wasman.2018.09.033. Epub 2018 Sep 22.

PMID:
30455013
5.

A 69-year-old woman with Coffin-Siris syndrome.

Määttänen L, Hietala M, Ignatius J, Arvio M.

Am J Med Genet A. 2018 Aug;176(8):1764-1767. doi: 10.1002/ajmg.a.38844. Epub 2018 Jul 28.

PMID:
30055038
6.

The Temporal Retinal Nerve Fiber Layer Thickness Is the Most Important Optical Coherence Tomography Estimate in Multiple Sclerosis.

Birkeldh U, Manouchehrinia A, Hietala MA, Hillert J, Olsson T, Piehl F, Kockum IS, Brundin L, Zahavi O, Wahlberg-Ramsay M, Brautaset R, Nilsson M.

Front Neurol. 2017 Dec 13;8:675. doi: 10.3389/fneur.2017.00675. eCollection 2017.

7.

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M.

Elife. 2017 Dec 12;6. pii: e30490. doi: 10.7554/eLife.30490.

8.

Heroin-induced acute myelopathy with extreme high levels of CSF glial fibrillar acidic protein indicating a toxic effect on astrocytes.

Sveinsson O, Herrman L, Hietala MA.

BMJ Case Rep. 2017 Jun 28;2017. pii: bcr-2017-219903. doi: 10.1136/bcr-2017-219903.

9.

Food allergy in a child with de novo KAT6A mutation.

Elenius V, Lähdesmäki T, Hietala M, Jartti T.

Clin Transl Allergy. 2017 Jun 22;7:19. doi: 10.1186/s13601-017-0155-x. eCollection 2017.

10.

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H.

Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Review.

PMID:
28211972
11.

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.

Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L.

Neurobiol Aging. 2017 Feb;50:168.e5-168.e8. doi: 10.1016/j.neurobiolaging.2016.10.014. Epub 2016 Oct 19.

PMID:
27838048
12.

Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation.

Martikainen MH, Päivärinta M, Hietala M, Kaasinen V.

Neurol Genet. 2015 Oct 15;1(4):e27. doi: 10.1212/NXG.0000000000000027. eCollection 2015 Dec.

13.

[Parkinson's disease associated with a mutation in the PARK2 gene].

Kaasinen V, Hietala M, Kuoppamäki M.

Duodecim. 2015;131(12):1187-90. Finnish.

PMID:
26245049
14.

Epidemiology of Huntington's disease in Finland.

Sipilä JO, Hietala M, Siitonen A, Päivärinta M, Majamaa K.

Parkinsonism Relat Disord. 2015 Jan;21(1):46-9. doi: 10.1016/j.parkreldis.2014.10.025. Epub 2014 Nov 3.

PMID:
25466405
15.

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

Stange K, Thieme T, Hertel K, Kuhfahl S, Janecke AR, Piza-Katzer H, Penttinen M, Hietala M, Dathe K, Mundlos S, Schwarz E, Seemann P.

J Mol Biol. 2014 Sep 23;426(19):3221-3231. doi: 10.1016/j.jmb.2014.07.029. Epub 2014 Aug 1.

PMID:
25092592
16.

Can complex health interventions be evaluated using routine clinical and administrative data? - a realist evaluation approach.

Riippa I, Kahilakoski OP, Linna M, Hietala M.

J Eval Clin Pract. 2014 Dec;20(6):1129-36. doi: 10.1111/jep.12175. Epub 2014 May 20.

PMID:
24840301
17.

Neurochemical evidence of potential neurotoxicity after prophylactic cranial irradiation.

Kalm M, Abel E, Wasling P, Nyman J, Hietala MA, Bremell D, Hagberg L, Elam M, Blennow K, Björk-Eriksson T, Zetterberg H.

Int J Radiat Oncol Biol Phys. 2014 Jul 1;89(3):607-14. doi: 10.1016/j.ijrobp.2014.03.019. Epub 2014 May 3.

PMID:
24803034
18.

Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.

Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, Knuutila S.

BMC Med Genet. 2014 Nov 18;15:124. doi: 10.1186/s12881-014-0124-3. No abstract available.

19.

Rapidly fluctuating environments constrain coevolutionary arms races by impeding selective sweeps.

Harrison E, Laine AL, Hietala M, Brockhurst MA.

Proc Biol Sci. 2013 Jun 12;280(1764):20130937. doi: 10.1098/rspb.2013.0937. Print 2013 Aug 7.

20.

Neurodegenerative and inflammatory biomarkers in cerebrospinal fluid in patients with Cushing's syndrome in remission.

Ragnarsson O, Berglund P, Eder DN, Zetterberg H, Hietala MA, Blennow K, Johannsson G.

Eur J Endocrinol. 2013 Jul 6;169(2):211-5. doi: 10.1530/EJE-13-0205. Print 2013 Aug.

PMID:
23733371
21.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D.

Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011.

22.

Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

Saarinen S, Kaasinen E, Karjalainen-Lindsberg ML, Vesanen K, Aavikko M, Katainen R, Taskinen M, Kytölä S, Leppä S, Hietala M, Vahteristo P, Aaltonen LA.

Blood. 2013 Apr 25;121(17):3428-30. doi: 10.1182/blood-2012-06-437210. Epub 2013 Mar 1.

23.

High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.

Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, Khuutila S.

BMC Med Genet. 2012 Sep 17;13:84. doi: 10.1186/1471-2350-13-84. Erratum in: BMC Med Genet. 2014;15:124. Multiple author names corrected.

24.

Given breast cancer, does breast size matter? Data from a prospective breast cancer cohort.

Markkula A, Bromée A, Henningson M, Hietala M, Ringberg A, Ingvar C, Rose C, Jernström H.

Cancer Causes Control. 2012 Aug;23(8):1307-16. doi: 10.1007/s10552-012-0008-9. Epub 2012 Jun 14.

PMID:
22695757
25.

Clinical profiles predict early nonadherence to adjuvant endocrine treatment in a prospective breast cancer cohort.

Markkula A, Hietala M, Henningson M, Ingvar C, Rose C, Jernström H.

Cancer Prev Res (Phila). 2012 May;5(5):735-45. doi: 10.1158/1940-6207.CAPR-11-0442. Epub 2012 Mar 8.

26.

Synthesis of porphyrinoids with silane anchors and their covalent self-assembling and metallation on solid surface.

Sariola-Leikas E, Hietala M, Veselov A, Okhotnikov O, Semjonov SL, Tkachenko NV, Lemmetyinen H, Efimov A.

J Colloid Interface Sci. 2012 Mar 1;369(1):58-70. doi: 10.1016/j.jcis.2011.12.044. Epub 2011 Dec 28.

PMID:
22230214
27.

Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).

Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, Näntö-Salonen K, Hietala M, Simell O, Mykkänen J.

Mol Genet Metab. 2012 Mar;105(3):408-15. doi: 10.1016/j.ymgme.2011.12.007. Epub 2011 Dec 16.

PMID:
22221392
28.

Androgen receptor genotypes predict response to endocrine treatment in breast cancer patients.

Lundin KB, Henningson M, Hietala M, Ingvar C, Rose C, Jernström H.

Br J Cancer. 2011 Nov 22;105(11):1676-83. doi: 10.1038/bjc.2011.441. Epub 2011 Oct 27.

29.

IGFBP1 and IGFBP3 polymorphisms predict circulating IGFBP-3 levels among women from high-risk breast cancer families.

Rosendahl AH, Hietala M, Henningson M, Olsson H, Jernström H.

Breast Cancer Res Treat. 2011 Jun;127(3):785-94. doi: 10.1007/s10549-010-1277-1. Epub 2010 Dec 8.

PMID:
21140206
30.

IGF1 htSNPs in relation to IGF-1 levels in young women from high-risk breast cancer families: implications for early-onset breast cancer.

Henningson M, Hietala M, Törngren T, Olsson H, Jernström H.

Fam Cancer. 2011 Jun;10(2):173-85. doi: 10.1007/s10689-010-9404-z.

PMID:
21113804
31.

Interactions between oral contraceptive status and GSTM1 and GSTT1 deletions on insulin-like growth factor-1 (IGF-1) plasma levels in young healthy women.

Henningson MC, Hietala M, Bågeman E, Olsson H, Jernström H.

Growth Horm IGF Res. 2010 Dec;20(6):432-7. doi: 10.1016/j.ghir.2010.10.003. Epub 2010 Nov 12.

PMID:
21075030
32.

Androgen receptor htSNPs in relation to androgen levels and OC use in young women from high-risk breast cancer families.

Hietala M, Henningson M, Törngren T, Olsson H, Jernström H.

Mol Genet Metab. 2011 Jan;102(1):82-90. doi: 10.1016/j.ymgme.2010.09.006. Epub 2010 Sep 25.

PMID:
20947401
33.

Natural remedy use in a prospective cohort of breast cancer patients in southern Sweden.

Hietala M, Henningson M, Ingvar C, Jönsson PE, Rose C, Jernström H.

Acta Oncol. 2011 Jan;50(1):134-43. doi: 10.3109/0284186X.2010.484812. Epub 2010 May 25.

PMID:
20500030
34.

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R.

Fam Cancer. 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2.

PMID:
20091131
35.

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.

Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller JS, Lochmüller H.

Eur J Paediatr Neurol. 2010 Jul;14(4):326-33. doi: 10.1016/j.ejpn.2009.09.009. Epub 2009 Nov 8.

PMID:
19900826
36.

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.

Koski TA, Lehtonen HJ, Jee KJ, Ninomiya S, Joosse SA, Vahteristo P, Kiuru M, Karhu A, Sammalkorpi H, Vanharanta S, Lehtonen R, Edgren H, Nederlof PM, Hietala M, Aittomäki K, Herva R, Knuutila S, Aaltonen LA, Launonen V.

Genes Chromosomes Cancer. 2009 Jul;48(7):544-51. doi: 10.1002/gcc.20663.

PMID:
19373782
37.

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

Penttinen M, Koillinen H, Niinikoski H, Mäkitie O, Hietala M.

Am J Med Genet A. 2009 Mar;149A(3):451-5. doi: 10.1002/ajmg.a.32644.

PMID:
19208376
38.

Are patient rights to information and self-determination in diagnostic genetic testing upheld? A comparison of patients' and providers' perceptions.

Nyrhinen T, Hietala M, Puukka P, Leino-Kilpi H.

J Genet Couns. 2009 Feb;18(1):72-81. doi: 10.1007/s10897-008-9190-z. Epub 2008 Nov 1.

PMID:
18979191
39.

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.

Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA.

Clin Dysmorphol. 2008 Oct;17(4):249-53. doi: 10.1097/MCD.0b013e328306a704.

PMID:
18978652
40.

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V.

Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010.

PMID:
18503824
41.

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.

Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H.

Eur J Hum Genet. 2008 Oct;16(10):1208-16. doi: 10.1038/ejhg.2008.93. Epub 2008 May 14.

42.

What is ideal genetic counselling? A survey of current international guidelines.

Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H.

Eur J Hum Genet. 2008 Apr;16(4):445-52. doi: 10.1038/sj.ejhg.5201983. Epub 2008 Jan 16.

44.

[Guidelines for brain concussion in sports--how are they to be applied in boxing?].

Zetterberg H, Hietala MA, Wallin A, Blennow K.

Lakartidningen. 2007 May 30-Jun 3;104(22):1715; author reply 1715-6. Swedish. No abstract available.

PMID:
17601324
45.

No neurochemical evidence for brain injury caused by heading in soccer.

Zetterberg H, Jonsson M, Rasulzada A, Popa C, Styrud E, Hietala MA, Rosengren L, Wallin A, Blennow K.

Br J Sports Med. 2007 Sep;41(9):574-7. Epub 2007 May 11.

46.

Privacy and equality in diagnostic genetic testing.

Nyrhinen T, Hietala M, Puukka P, Leino-Kilpi H.

Nurs Ethics. 2007 May;14(3):295-308.

PMID:
17459814
47.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17.

PMID:
17439981
48.

Neurochemical aftermath of amateur boxing.

Zetterberg H, Hietala MA, Jonsson M, Andreasen N, Styrud E, Karlsson I, Edman A, Popa C, Rasulzada A, Wahlund LO, Mehta PD, Rosengren L, Blennow K, Wallin A.

Arch Neurol. 2006 Sep;63(9):1277-80.

PMID:
16966505
49.

Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women.

Hietala M, Sandberg T, Borg A, Olsson H, Jernström H.

Hum Reprod. 2007 Jan;22(1):83-91. Epub 2006 Aug 18.

PMID:
16920725
50.

Complement: a novel factor in basal and ischemia-induced neurogenesis.

Rahpeymai Y, Hietala MA, Wilhelmsson U, Fotheringham A, Davies I, Nilsson AK, Zwirner J, Wetsel RA, Gerard C, Pekny M, Pekna M.

EMBO J. 2006 Mar 22;25(6):1364-74. Epub 2006 Feb 23.

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