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Items: 1 to 50 of 149

1.

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Mäkelä M, Suo-Palosaari M, Pietilä I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Rämet M, Hallman M, Hinttala R.

Acta Neuropathol. 2018 May;135(5):727-742. doi: 10.1007/s00401-018-1817-z. Epub 2018 Feb 8.

PMID:
29423877
2.

Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas.

Forsström LM, Sumi K, Mäkinen MJ, Oh JE, Herva R, Kleihues P, Ohgaki H, Aaltonen LA.

J Neuropathol Exp Neurol. 2017 Oct 1;76(10):848-853. doi: 10.1093/jnen/nlx066.

PMID:
28922847
3.

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME; DDD Study, Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M.

Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18.

4.

[Lobotomy].

Herva R.

Duodecim. 2013;129(14):1499-501. Finnish.

PMID:
23961609
5.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE.

Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.

6.

Cord blood chemokines differentiate between spontaneous and elective preterm births in singleton pregnancies.

Kaukola T, Ojaniemi M, Tuimala J, Herva R, Saarela T, Kingsmore SF, Hallman M.

Cytokine. 2011 Apr;54(1):85-91. doi: 10.1016/j.cyto.2011.01.002. Epub 2011 Feb 1.

PMID:
21288736
7.

Chemokine CCL18 predicts intraventricular hemorrhage in very preterm infants.

Kallankari H, Kaukola T, Ojaniemi M, Herva R, Perhomaa M, Vuolteenaho R, Kingsmore SF, Hallman M.

Ann Med. 2010 Sep;42(6):416-25. doi: 10.3109/07853890.2010.481085.

PMID:
20608885
8.

[Abdominal pregnancy].

Hyvärinen M, Raudaskoski T, Tekay A, Herva R.

Duodecim. 2009;125(22):2448-51. Finnish.

PMID:
20095116
9.

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
10.

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
11.

Digenic mutations in severe myoclonic epilepsy of infancy.

Bolszak M, Anttonen AK, Komulainen T, Hinttala R, Pakanen S, Sormunen R, Herva R, Lehesjoki AE, Majamaa K, Rantala H, Uusimaa J.

Epilepsy Res. 2009 Aug;85(2-3):300-4. doi: 10.1016/j.eplepsyres.2009.03.004. Epub 2009 Apr 9.

PMID:
19359143
12.

Radiation-induced meningiomas: a shadow in the success story of childhood leukemia.

Banerjee J, Pääkkö E, Harila M, Herva R, Tuominen J, Koivula A, Lanning M, Harila-Saari A.

Neuro Oncol. 2009 Oct;11(5):543-9. doi: 10.1215/15228517-2008-122. Epub 2009 Jan 29.

13.

Cord immunoproteins as predictors of respiratory outcome in preterm infants.

Kaukola T, Tuimala J, Herva R, Kingsmore S, Hallman M.

Am J Obstet Gynecol. 2009 Jan;200(1):100.e1-8. doi: 10.1016/j.ajog.2008.07.070. Epub 2008 Nov 21.

PMID:
19026401
14.

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A.

Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26.

PMID:
18819985
15.

Blood cytokines during the perinatal period in very preterm infants: relationship of inflammatory response and bronchopulmonary dysplasia.

Paananen R, Husa AK, Vuolteenaho R, Herva R, Kaukola T, Hallman M.

J Pediatr. 2009 Jan;154(1):39-43.e3. doi: 10.1016/j.jpeds.2008.07.012. Epub 2008 Aug 30.

PMID:
18760808
16.

Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.

Paetau A, Honkala H, Salonen R, Ignatius J, Kestilä M, Herva R.

J Neuropathol Exp Neurol. 2008 Aug;67(8):750-62. doi: 10.1097/NEN.0b013e318180ec2e.

PMID:
18648327
17.

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
18.

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K.

Epilepsia. 2008 Jun;49(6):1038-45. doi: 10.1111/j.1528-1167.2008.01544.x. Epub 2008 Feb 20.

19.

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

Nousiainen HO, Kestilä M, Pakkasjärvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L.

Nat Genet. 2008 Feb;40(2):155-7. doi: 10.1038/ng.2007.65. Epub 2008 Jan 20.

20.

The tau S305S mutation causes frontotemporal dementia with parkinsonism.

Skoglund L, Viitanen M, Kalimo H, Lannfelt L, Jönhagen ME, Ingelsson M, Glaser A, Herva R.

Eur J Neurol. 2008 Feb;15(2):156-61. Epub 2007 Dec 18.

PMID:
18093153
21.

Childhood lichen planus after simultaneous measles-mumps-rubella and diphtheria-tetanus-pertussis-polio vaccinations.

Tasanen K, Renko M, Kandelberg P, Herva R, Oikarinen A.

Br J Dermatol. 2008 Mar;158(3):646-8. Epub 2007 Dec 14. No abstract available.

PMID:
18081897
22.

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T.

Brain. 2007 Nov;130(Pt 11):3032-40. Epub 2007 Oct 5.

PMID:
17921179
23.

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.

Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM.

Acta Neuropathol. 2007 Nov;114(5):543-5. Epub 2007 Sep 6. No abstract available.

PMID:
17805552
24.

Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.

Lehtonen HJ, Mäkinen MJ, Kiuru M, Laiho P, Herva R, van Minderhout I, Hogendoorn PC, Cornelisse C, Devilee P, Launonen V, Aaltonen LA.

Int J Cancer. 2007 Sep 15;121(6):1386-9.

25.

Expression and localization of SWAP-70 in human fetomaternal interface and placenta during tubal pregnancy and normal placentation.

Liu J, Li D, Cao B, Li YX, Herva R, Piao YS, Wang YL.

J Histochem Cytochem. 2007 Jul;55(7):701-8. Epub 2007 Mar 19.

PMID:
17371938
26.

Conventional renal cancer in a patient with fumarate hydratase mutation.

Lehtonen HJ, Blanco I, Piulats JM, Herva R, Launonen V, Aaltonen LA.

Hum Pathol. 2007 May;38(5):793-6. Epub 2007 Jan 31.

PMID:
17270241
27.

Cerebroretinal microangiopathy with calcifications and cysts.

Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki JM, Kivelä T, Lönnqvist T, Mäkitie O, Pääkkönen L, Vainionpää L, Vanninen R, Herva R, Pihko H.

Neurology. 2006 Oct 24;67(8):1437-43. Epub 2006 Aug 30.

PMID:
16943371
28.

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.

Pakkasjärvi N, Ritvanen A, Herva R, Peltonen L, Kestilä M, Ignatius J.

Am J Med Genet A. 2006 Sep 1;140A(17):1834-9.

PMID:
16892327
29.

Population cohort associating chorioamnionitis, cord inflammatory cytokines and neurologic outcome in very preterm, extremely low birth weight infants.

Kaukola T, Herva R, Perhomaa M, Pääkkö E, Kingsmore S, Vainionpää L, Hallman M.

Pediatr Res. 2006 Mar;59(3):478-83.

PMID:
16492993
30.

[Gaucher disease].

Timonen T, Möttönen M, Nousiainen T, Herva R, Savolainen ER.

Duodecim. 2005;121(19):2068-76. Review. Finnish. No abstract available.

PMID:
16300295
31.

Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease.

Pakkasjärvi N, Gentile M, Saharinen J, Honkanen J, Herva R, Peltonen L, Kestilä M.

J Neurobiol. 2005 Dec;65(3):269-81.

32.

Increased risk of cancer in patients with fumarate hydratase germline mutation.

Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomäki K, Pukkala E, Launonen V, Aaltonen LA.

J Med Genet. 2006 Jun;43(6):523-6. Epub 2005 Sep 9.

33.

Suboptimal neurodevelopment in very preterm infants is related to fetal cardiovascular compromise in placental insufficiency.

Kaukola T, Räsänen J, Herva R, Patel DD, Hallman M.

Am J Obstet Gynecol. 2005 Aug;193(2):414-20.

PMID:
16098863
34.

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

Kärppä M, Herva R, Moslemi AR, Oldfors A, Kakko S, Majamaa K.

Brain. 2005 Aug;128(Pt 8):1861-9. Epub 2005 Apr 27.

PMID:
15857931
36.

Estrogen receptors and estrogen-metabolizing enzymes in human ovaries during fetal development.

Vaskivuo TE, Mäentausta M, Törn S, Oduwole O, Lönnberg A, Herva R, Isomaa V, Tapanainen JS.

J Clin Endocrinol Metab. 2005 Jun;90(6):3752-6. Epub 2005 Mar 22.

PMID:
15784714
37.
38.

Expression of collagen XVIII and MMP-20 in developing teeth and odontogenic tumors.

Väänänen A, Tjäderhane L, Eklund L, Heljasvaara R, Pihlajaniemi T, Herva R, Ding Y, Bartlett JD, Salo T.

Matrix Biol. 2004 Jun;23(3):153-61.

PMID:
15296943
39.

Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy.

Remes AM, Finnilä S, Mononen H, Tuominen H, Takalo R, Herva R, Majamaa K.

Neurology. 2004 Jul 27;63(2):234-40.

PMID:
15277614
40.

Type I and III collagen protein precursors and mRNA in the developing human lung.

Kaarteenaho-Wiik R, Pääkkö P, Herva R, Risteli J, Soini Y.

J Pathol. 2004 May;203(1):567-74.

PMID:
15095480
41.

Expression of P450 aromatase and 17beta-hydroxysteroid dehydrogenase type 1 at fetal-maternal interface during tubal pregnancy.

Li Y, Qin L, Xiao ZJ, Wang YL, Herva R, Leng JH, Lang JH, Isomaa V, Piao YS.

J Steroid Biochem Mol Biol. 2003 Dec;87(4-5):241-6.

PMID:
14698204
42.

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peçzkowska M, Morrison CD, Lehtonen R, Januszewicz A, Järvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C.

Am J Hum Genet. 2004 Jan;74(1):153-9. Epub 2003 Dec 18.

43.

Expression of integrins and extracellular matrix proteins at the maternal-fetal interface during tubal implantation.

Qin L, Wang YL, Bai SX, Xiao ZJ, Herva R, Piao YS.

Reproduction. 2003 Sep;126(3):383-91.

PMID:
12968946
44.

Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis.

Ketola I, Toppari J, Vaskivuo T, Herva R, Tapanainen JS, Heikinheimo M.

J Clin Endocrinol Metab. 2003 Apr;88(4):1858-65.

PMID:
12679484
45.

A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease.

Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, Hassinen IE, Majamaa K.

Pediatrics. 2003 Mar;111(3):e262-8.

PMID:
12612282
46.

Acute bilateral exercise-induced medial compartment syndrome of the thigh. Correlation of repeated MRI with clinicopathological findings.

Leppilahti J, Tervonen O, Herva R, Karinen J, Puranen J.

Int J Sports Med. 2002 Nov;23(8):610-5.

PMID:
12439779
47.

[Northern epilepsy and the gene error behind it].

Ranta S, Hirvasniemi A, Herva R, Haltia M, Lehesjoki AE.

Duodecim. 2002;118(15):1551-8. Review. Finnish. No abstract available.

PMID:
12244629
48.

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.

Kiuru M, Lehtonen R, Arola J, Salovaara R, Järvinen H, Aittomäki K, Sjöberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, Launonen V, Karhu A, Aaltonen LA.

Cancer Res. 2002 Aug 15;62(16):4554-7.

49.

Effects of follicle-stimulating hormone (FSH) and human chorionic gonadotropin in individuals with an inactivating mutation of the FSH receptor.

Vaskivuo TE, Aittomäki K, Anttonen M, Ruokonen A, Herva R, Osawa Y, Heikinheimo M, Huhtaniemi I, Tapanainen JS.

Fertil Steril. 2002 Jul;78(1):108-13.

PMID:
12095499
50.

MR of a nasal glioma in a young infant.

Jartti PH, Jartti AE, Karttunen AI, Pääkkö EL, Herva RL, Pirilä TO.

Acta Radiol. 2002 Mar;43(2):141-3.

PMID:
12010290

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