Search Results - "Polvi, Anne"

Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings by Gaily, Eija, Anttonen, Anna‐Kaisa, Valanne, Leena, Liukkonen, Elina, Träskelin, Ann‐Liz, Polvi, Anne, Lommi, Markus, Muona, Mikko, Eriksson, Kai, Lehesjoki, Anna‐Elina

“…Summary Purpose Dravet syndrome is an autosomal dominant epileptic encephalopathy of childhood, which is caused mainly by SCN1A and PCHD19 mutations. Although…”
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PRRT2-related disorders: further PKD and ICCA cases and review of the literature by Becker, Felicitas, Schubert, Julian, Striano, Pasquale, Anttonen, Anna-Kaisa, Liukkonen, Elina, Gaily, Eija, Gerloff, Christian, Müller, Stephan, Heußinger, Nicole, Kellinghaus, Christoph, Robbiano, Angela, Polvi, Anne, Zittel, Simone, von Oertzen, Tim J., Rostasy, Kevin, Schöls, Ludger, Warner, Tom, Münchau, Alexander, Lehesjoki, Anna-Elina, Zara, Federico, Lerche, Holger, Weber, Yvonne G.

“…Recent studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia…”
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SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy by Hakonen, Anna H., Polvi, Anne, Saloranta, Carola, Paetau, Anders, Heikkilä, Päivi, Almusa, Henrikki, Ellonen, Pekka, Jakkula, Eveliina, Saarela, Janna, Aittomäki, Kristiina

“…Fetal akinesia deformation sequence (FADS) and lethal multiple pterygium syndrome (LMPS) are clinically overlapping syndromes manifesting with reduced or…”
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Characterization of a Common Susceptibility Locus for Asthma-Related Traits by Laitinen, Tarja, Polvi, Anne, Rydman, Pia, Vendelin, Johanna, Pulkkinen, Ville, Salmikangas, Paula, Mäkelä, Siru, Rehn, Marko, Pirskanen, Asta, Rautanen, Anna, Zucchelli, Marco, Gullstén, Harriet, Leino, Marina, Alenius, Harri, Petäys, Tuula, Haahtela, Tari, Laitinen, Annika, Laprise, Catherine, Hudson, Thomas J., Laitinen, Lauri A., Kere, Juha

“…Susceptibility to asthma depends on variation at an unknown number of genetic loci. To identify susceptibility genes on chromosome 7p, we adopted a…”
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The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era by Polvi, Anne, Linturi, Henna, Varilo, Teppo, Anttonen, Anna-Kaisa, Byrne, Myles, Fokkema, Ivo F.A.C., Almusa, Henrikki, Metzidis, Anthony, Avela, Kristiina, Aula, Pertti, Kestilä, Marjo, Muilu, Juha

“…ABSTRACT The Finnish Disease Heritage Database (FinDis) (http://findis.org) was originally published in 2004 as a centralized information resource for rare…”
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Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts by Polvi, Anne, Linnankivi, Tarja, Kivelä, Tero, Herva, Riitta, Keating, James P., Mäkitie, Outi, Pareyson, Davide, Vainionpää, Leena, Lahtinen, Jenni, Hovatta, Iiris, Pihko, Helena, Lehesjoki, Anna-Elina

“…Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare multisystem disorder characterized by extensive intracranial calcifications and…”
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Leukoencephalopathy, cerebral calcifications and cysts: a family study by Karlinger, Kinga, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Polvi, Anne, Lehesjoki, Anna-Elina, Kelemen, Andrea, Szegedi, László, Turányi, Eszter, Kamondi, Anita, Szűcs, Anna

“…We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by…”
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Celiac disease and markers of celiac disease latency in patients with primary Sjögren’s syndrome by Iltanen, Sari, Collin, Pekka, Korpela, Markku, Holm, Kati, Partanen, Jukka, Polvi, Anne, Mäki, Markku

“…OBJECTIVE: Many autoimmune diseases occur concomitantly with celiac disease. We investigated prospectively the occurrence of celiac disease and small-bowel…”
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Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q by Sirén, Auli, Polvi, Anne, Chahine, Lyne, Labuda, Malgorzata, Bourgoin, Sarah, Anttonen, Anna-Kaisa, Kousi, Maria, Hirvonen, Kari, Simola, Kalle O.J, Andermann, Eva, Laiho, Asta, Soini, Juhani, Koivikko, Matti, Laaksonen, Reijo, Pandolfo, Massimo, Lehesjoki, Anna-Elina

“…Summary Purpose To characterize the clinical features and molecular genetic background in a family with various epilepsy phenotypes including febrile seizures,…”
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The mouse tie receptor tyrosine kinase gene: expression during embryonic angiogenesis by Korhonen, J, Polvi, A, Partanen, J, Alitalo, K

“…Angiogenesis, the process by which new blood vessels are formed, is essential in reproduction, development, wound repair and oncogenesis. Endothelial receptor…”
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High-Resolution Analysis of Genomic Alterations and Human Papillomavirus Integration in Anal Intraepithelial Neoplasia by Gagne, S Eric, Jensen, Ronald, Polvi, Anne, Costa, Maria Da, Ginzinger, David, Efird, Jimmy T, Holly, Elizabeth A, Darragh, Tere, Palefsky, Joel M

“…Anal intraepithelial neoplasia (AIN) is the likely precursor to anal cancer. AIN is associated with human papillomavirus (HPV) infection, and HPV-associated…”
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HLA-DQ2-Negative Celiac Disease in Finland and Spain by Polvi, Anne, Arranz, Eduardo, Fernandez-Arquero, Miguel, Collin, Pekka, Mäki, Markku, Sanz, Alberto, Calvo, Carmen, Maluenda, Carlos, Westman, Pia, de la Concha, Emilio G., Partanen, Jukka

“…Genetic susceptibility to celiac disease (CD) is strongly associated with DQA1∗0501 and DQB1∗02 (= DQ2). To study whether CD patients without DQ2 share other…”
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Celiac disease and markers of celiac disease latency in patients with primary Sjögren's syndrome by Iltanen, Sari, Collin, Pekka, Korpela, Markku, Holm, Kati, Partanen, Jukka, Polvi, Anne, Mäki, Markku

“…Many autoimmune diseases occur concomitantly with celiac disease. We investigated prospectively the occurrence of celiac disease and small-bowel mucosal…”
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Physical map of an asthma susceptibility locus in 7p15-p14 and an association study of TCRG by Polvi, Anne, Polvi, Tuomas, Sevon, Petteri, Petäys, Tuula, Haahtela, Tari, Laitinen, Lauri A, Kere, Juha, Laitinen, Tarja

“…Chromosome 7p15-p14 showed genome-wide significant linkage to asthma related traits among the Finnish and French-Canadian families. As an essential step toward…”
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Celiac patients predominantly inherit HLA-DPB10101 positive haplotype from HLA-DQ2 homozygous parent by Polvi, Anne, Mäki, Markku, Partanen, Jukka

“…The DQA1*0501 and DQB1*0201 alleles (hereafter DQ2) confer genetic susceptibility to celiac disease (CD). Some studies have indicated that the DPB1, DMB, and…”
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Distinct immunologic features of Finnish Sjögren's syndrome patients with HLA alleles DRB10301, DQA10501, and DQB10201. Alterations in circulating T cell receptor gamma/delta subsets by Kerttula, T O, Collin, P, Polvi, A, Korpela, M, Partanen, J, Mäki, M

“…To determine whether there were differences in the circulating T lymphocyte subsets or clinical features of patients with primary Sjögren's syndrome (SS) who…”
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Encouraging experiences of interactive lectures by Lehtonen, Sanna, Linden, Anni-Maija, Ojala, Päivi M, Polvi, Anne, Sallinen, Ville, Viranta, Suvi

“…Traditional lectures typically represent unidirectional transfer of information from teacher to students whilst interactive lectures involve student activity…”
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