Works by Herva, Riitta

Results: 35

Immunodeficiency associated with a deletion in the short arm of the X-chromosome.

Published in:

Clinical & Experimental Immunology, 1981, v. 45, n. 1, p. 107

By:

Nurmi, T.;
Uhari, M.;
Linna, Sirkka-Liisa;
Herva, Riitta;
Tiilikainen, Anja;
Kouvalainen, K.

Publication type:

Article

P3-150: Frontotemporal dementia and parkinsonism: A new phenotype of the tau S305S mutation

Published in:

2006

By:

Skoglund, Lena;
Kalimo, Hannu;
Herva, Riitta;
Ingelsson, Martin;
Lannfelt, Lars;
Glaser, Anna;
Viitanen, Matti

Publication type:

Abstract

P3-150: Frontotemporal dementia and parkinsonism: A new phenotype of the tau S305S mutation

Published in:

2006

By:

Skoglund, Lena;
Kalimo, Hannu;
Herva, Riitta;
Ingelsson, Martin;
Lannfelt, Lars;
Glaser, Anna;
Viitanen, Matti

Publication type:

Abstract

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

Published in:

Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1038, doi. 10.1111/j.1528-1167.2008.01544.x

By:

Uusimaa, Johanna;
Hinttala, Reetta;
Rantala, Heikki;
Päiv&ärinta, Markku;
Herva, Riitta;
Röytt, Matias;
Soini, Heidi;
Moilanen, Jukka S.;
Remes, Anne M.;
Hassinen, Ilmo E.;
Majamaa, Kari

Publication type:

Article

p53 immunohistochemical positivity as a prognostic marker in intracranial tumours.

Published in:

APMIS, 1994, v. 102, n. 7-12, p. 786, doi. 10.1111/j.1699-0463.1994.tb05235.x

By:

SOINI, YLERMI;
NIEMELÄ, ASKO;
KAMEL, DIA;
HERVA, RIITTA;
BLOIGU, RISTO;
PÄÄKKÖ, PAAVO;
VÄHÄKANGAS, KIRSI

Publication type:

Article

Collagenase-3 (MMP-13) is expressed by hypertrophic chondrocytes, periosteal cells, and osteoblasts during human fetal bone development.

Published in:

Developmental Dynamics, 1997, v. 208, n. 3, p. 387, doi. 10.1002/(SICI)1097-0177(199703)208:3<387::AID-AJA9>3.0.CO;2-E

By:

Johansson, Nina;
Saarialho-Kere, Ulpu;
Airola, Kristiina;
Herva, Riitta;
Nissinen, Liisa;
Westermarck, Jukka;
Vuorio, Eero;
Heino, Jyrki;
Kähäri, Veli-Matti

Publication type:

Article

Trisomy 10p produced by recombination involving complex paternal translocation between chromosomes 1 and 10.

Published in:

Clinical Genetics, 1983, v. 24, n. 1, p. 50, doi. 10.1111/j.1399-0004.1983.tb00069.x

By:

Herva, Riitta;
Korhonen, Sirpa;
Haapala, Kyllikki;
Timonen, Eija

Publication type:

Article

The hydrolethalus syndrome: delineation of a 'new', lethal malformation syndrome based on 28 patients.

Published in:

Clinical Genetics, 1981, v. 19, n. 5, p. 321, doi. 10.1111/j.1399-0004.1981.tb00718.x

By:

Salonen, Riitta;
Herva, Riitta;
Norio, Reijo

Publication type:

Article

Congenital heart disease with del(15q) mosaicism.

Published in:

Clinical Genetics, 1980, v. 17, n. 1, p. 26, doi. 10.1111/j.1399-0004.1980.tb00108.x

By:

Herva, Riitta;
Vuorinen, Olli

Publication type:

Article

POLYCYSTIC KIDNEY DISEASE OF PERINATAL TYPE.

Published in:

Acta Paediatrica, 1979, v. 68, n. 4, p. 443, doi. 10.1111/j.1651-2227.1979.tb05035.x

By:

Uhari, M;
Herva, Riitta

Publication type:

Article

Clinical features of pregnancies with fatal fetal abnormality.

Published in:

1981

By:

Kirkinen, Pertti;
Jouppila, Pentti;
Herva, Riitta;
Kirkinen, P;
Jouppila, P;
Herva, R

Publication type:

journal article

Human herpesvirus-6 associated encephalitis with subsequent infantile spasms and cerebellar astrocytoma.

Published in:

2000

By:

Rantala, Heikki;
Mannonen, Laura;
Ahtiluoto, Satu;
Linnavuori, Kimmo;
Herva, Riitta;
Vaheri, Antti;
Koskiniemi, Marjaleena;
Rantala, H;
Mannonen, L;
Ahtiluoto, S;
Linnavuori, K;
Herva, R;
Vaheri, A;
Koskiniemi, M

Publication type:

journal article

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

Published in:

Nature Genetics, 2008, v. 40, n. 2, p. 155, doi. 10.1038/ng.2007.65

By:

Nousiainen, Heidi O.;
Kestilä, Marjo;
Pakkasjärvi, Niklas;
Honkala, Heli;
Kuure, Satu;
Tallila, Jonna;
Vuopala, Katri;
Ignatius, Jaakko;
Herva, Riitta;
Peltonen, Leena

Publication type:

Article

A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL.

Published in:

Journal of Molecular Medicine, 2001, v. 79, n. 11, p. 641, doi. 10.1007/s001090100268

By:

Finnilä, Saara;
Tuisku, Seppo;
Herva, Riitta;
Majamaa, Kari

Publication type:

Article

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

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 2841, doi. 10.1093/brain/awn236

By:

Alexandra Götz;
Pirjo Isohanni;
Helena Pihko;
Anders Paetau;
Riitta Herva;
Outi Saarenpää-Heikkilä;
Leena Valanne;
Sanna Marjavaara;
Anu Suomalainen

Publication type:

Article

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 11, p. 3032, doi. 10.1093/brain/awm242

By:

Anna H. Hakonen;
Pirjo Isohanni;
Anders Paetau;
Riitta Herva;
Anu Suomalainen;
Tuula Lönnqvist

Publication type:

Article

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

Published in:

Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1861

By:

Mikko Kärppä;
Riitta Herva;
Ali-Reza Moslemi;
Anders Oldfors;
Sakari Kakko;
Kari Majamaa

Publication type:

Article

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

Published in:

Familial Cancer, 2010, v. 9, n. 2, p. 245, doi. 10.1007/s10689-009-9312-2

By:

Vahteristo, Pia;
Koski, Taru;
Näätsaari, Laura;
Kiuru, Maija;
Karhu, Auli;
Herva, Riitta;
Sallinen, Satu-Leena;
Vierimaa, Outi;
Björck, Erik;
Richard, Stéphane;
Gardie, Betty;
Bessis, Didier;
Glabeke, Emmanuel;
Blanco, Ignacio;
Houlston, Richard;
Senter, Leigha;
Hietala, Marja;
Aittomäki, Kristiina;
Aaltonen, Lauri;
Launonen, Virpi

Publication type:

Article

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 10, p. 3722, doi. 10.1210/jcem.81.10.8855829

By:

AITTOMÄKI, KRISTIINA;
HERVA, RIITTA;
STENMAN, ULF-HÅKAN;
JUNTUNEN, KAISA;
YLÖSTALO, PEKKA;
HOVATTA, OUTI;
DE LA CHAPELLE, ALBERT

Publication type:

Article

LCCS: A Lethal Motoneuron Disease of the Fetus Maps to Chromosome 9 q34.

Published in:

Annals of the New York Academy of Sciences, 1998, v. 857, n. 1, p. 260, doi. 10.1111/j.1749-6632.1998.tb10127.x

By:

JÄRVINEN, NIKLAS;
MÄKELÄ-BENGS, PÄIVI;
SUOMALAINEN, ANU;
VUOPALA, KATRI;
HERVA, RIITTA;
PALOTIE, AARNO;
PELTONEN, LEENA

Publication type:

Article

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

Published in:

2007

By:

Hinttala, Reetta;
Karttunen, Vesa;
Karttunen, Ari;
Herva, Riitta;
Uusimaa, Johanna;
Remes, Anne M.

Publication type:

Letter

Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect.

Published in:

Acta Neuropathologica, 1995, v. 90, n. 2, p. 176, doi. 10.1007/BF00294318

By:

Vuopala, Katri;
Pedrosa-Domellöf, Fatima;
Herva, Riitta;
Leisti, Jaakko;
Thornell, Lars-Eric

Publication type:

Article

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

Published in:

Genes, Chromosomes & Cancer, 2009, v. 48, n. 7, p. 544, doi. 10.1002/gcc.20663

By:

Koski, Taru A.;
Lehtonen, Heli J.;
Jee, Kowan J.;
Ninomiya, Shinsuke;
Joosse, Simon A.;
Vahteristo, Pia;
Kiuru, Maija;
Karhu, Auli;
Sammalkorpi, Heli;
Vanharanta, Sakari;
Lehtonen, Rainer;
Edgren, Henrik;
Nederlof, Petra M.;
Hietala, Marja;
Aittomäki, Kristiina;
Herva, Riitta;
Knuutila, Sakari;
Aaltonen, Lauri A.;
Launonen, Virpi

Publication type:

Article

Prenatal detection of hydrolethalus syndrome.

Published in:

1983

By:

Hartikainen-Sorri, Anna-Liisa;
Kirkinen, Pertti;
Herva, Riitta;
Hartikainen-Sorri, A L;
Kirkinen, P;
Herva, R

Publication type:

journal article

Prenatal diagnosis of pleural effusions by ultrasound.

Published in:

1983

By:

Jouppila, Pentti;
Kirkinen, Pertti;
Herva, Riitta;
Koivisto, Maila;
Jouppila, P;
Kirkinen, P;
Herva, R;
Koivisto, M

Publication type:

journal article

Increased HIF1α in SDH and FH deficient tumors does not cause microsatellite instability.

Published in:

International Journal of Cancer, 2007, v. 121, n. 6, p. 1386, doi. 10.1002/ijc.22819

By:

Lehtonen, Heli J.;
Mäkinen, Markus J.;
Kiuru, Maija;
Laiho, Päivi;
Herva, Riitta;
Minderhout, Ivonne van;
Hogendoorn, Pancras C.W.;
Cornelisse, Cees;
Devilee, Peter;
Launonen, Virpi;
Aaltonen, Lauri A.

Publication type:

Article

Northern Epilepsy: A Novel Form of Neuronal Ceroid-Lipofuscinosis.

Published in:

Brain Pathology, 2000, v. 10, n. 2, p. 215, doi. 10.1111/j.1750-3639.2000.tb00255.x

By:

Herva, Riitta;
Tyynelä, Jaana;
Hirvasniemi, Aune;
Syrjäkallio-Ylitalo, Marja;
Haltia, Matti

Publication type:

Article

Chemokine CCL18 predicts intraventricular hemorrhage in very preterm infants.

Published in:

Annals of Medicine, 2010, v. 42, n. 6, p. 416, doi. 10.3109/07853890.2010.481085

By:

Kallankari, Hanna;
Kaukola, Tuula;
Ojaniemi, Marja;
Herva, Riitta;
Perhomaa, Marja;
Vuolteenaho, Reetta;
Kingsmore, Stephen F.;
Hallman, Mikko

Publication type:

Article

Estrogen Receptors and Estrogen-Metabolizing Enzymes in Human Ovaries during Fetal Development.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3752, doi. 10.1210/jc.2004-1818

By:

Vaskivuo, Tommi E.;
Mäentausta, Minna;
Tärn, Svea;
Oduwole, Olayiwola;
Lönnberg, Annika;
Herva, Riitta;
Isomaa, Veli;
Tapanainen, Juha S.

Publication type:

Article

Transcription Factor GATA-6, Cell Proliferation, Apoptosis, and Apoptosis-Related Proteins Bcl-2 and Bax in Human Fetal Testis.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 4, p. 1858, doi. 10.1210/jc.2002-021647

By:

KETOLA, ILKKA;
TOPPARI, JORMA;
VASKIVUO, TOMMI;
HERVA, RIITTA;
TAPANAINEN, JUHA S.;
HEIKINHEIMO, MARKKU

Publication type:

Article

Survival of Human Ovarian Follicles from Fetal to Adult Life: Apoptosis, Apoptosis-Related Proteins, and Transcription Factor GATA-4.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 7, p. 3421, doi. 10.1210/jcem.86.7.7679

By:

VASKIVUO, TOMMI E.;
MIKKO ANTTONEN;
HERVA, RIITTA;
BILLIG, HÅKAN;
DORLAND, MARINUS;
TE VELDE, EGBERT R.;
STENBACK, FREJ;
MARKKU HEIKINHEIMO;
TAPANAINEN, JUHA S.

Publication type:

Article

Expression of Transcription Factor GATA-4 during Human Testicular Development and Disease.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 10, p. 3925, doi. 10.1210/jcem.85.10.6900

By:

KETOLA, ILKKA;
PENTIKÄINE, VIRVE;
VASKIVUO, TOMMI;
ILVESMÄKI, VESA;
HERVA, RIITTA;
DUNKEL, LEO;
TAPANAINEN, JUHA S.;
TOPPARI, JORMA;
HEIKINHEIMO, MARKKU

Publication type:

Article

Distribution and mRNA Expression of Tenascin-C in Developing Human Lung.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2001, v. 25, n. 3, p. 342, doi. 10.1165/ajrcmb.25.3.4460

By:

Kaarteenaho-Wiik, Riitta;
Kinnula, Vuokko;
Herva, Riitta;
Pääkkö, Paavo;
Pöllänen, Raimo;
Soin, Ylermi

Publication type:

Article

Documentation of paradoxical umbilical blood supply of an acardiac twin in the antepartum state.

Published in:

Journal of Perinatal Medicine, 1989, v. 17, n. 1, p. 63

By:

Kirkinen, Pertti;
Herva, Riitta;
Rãsãnen, Juha;
Airaksinen, Juhani;
Ikäheimo, Markken

Publication type:

Article

Prenatal Diagnosis of Single Gene Disorders in Northern Finland.

Published in:

Annals of Medicine, 1990, v. 22, n. 2, p. 123, doi. 10.3109/07853899009147254

By:

Leisti, Jaakko;
Jouppila, Pentti;
Mustonen, Aki;
Kähkönen, Marketta;
Herva, Riitta;
Ruokonen, Aimo;
Kirkinen, Pertti

Publication type:

Article