Search Results - "Simola, O"

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy by Götz, Alexandra, Tyynismaa, Henna, Euro, Liliya, Ellonen, Pekka, Hyötyläinen, Tuulia, Ojala, Tiina, Hämäläinen, Riikka H., Tommiska, Johanna, Raivio, Taneli, Oresic, Matej, Karikoski, Riitta, Tammela, Outi, Simola, Kalle O.J., Paetau, Anders, Tyni, Tiina, Suomalainen, Anu

“…Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of…”
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Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients by Bruce, Sara, Hannula-Jouppi, Katariina, Puoskari, Mari, Fransson, Ingegerd, Simola, Kalle O J, Lipsanen-Nyman, Marita, Kere, Juha

“…Silver-Russell syndrome (SRS, OMIM 180860) features fetal and postnatal growth restriction and variable dysmorphisms. Genetic and epigenetic aberrations on…”
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Health parameters in tail biters and bitten pigs in a case–control study by Munsterhjelm, C., Simola, O., Keeling, L., Valros, A., Heinonen, M.

“…Health in relation to tail-biting behaviour was investigated on a problem farm. Quartets (n = 16) of age- and gender-matched fattening pigs including a tail…”
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CYP11A1 inhibition as a therapeutic approach for the treatment of castration resistant prostate cancer by Oksala, R., Räsänen, K., Karimaa, M., Riikonen, R., Ramela, M., Vehmaan-Kreula, P., Simola, O., Rummakko, P., Wohlfahrt, G., Mustonen, M.

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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity by Gordillo, Miriam, Vega, Hugo, Trainer, Alison H., Hou, Fajian, Sakai, Norio, Luque, Ricardo, Kayserili, Hülya, Basaran, Seher, Skovby, Flemming, Hennekam, Raoul C. M., Uzielli, Maria L. Giovannucci, Schnur, Rhonda E., Manouvrier, Sylvie, Chang, Susan, Blair, Edward, Hurst, Jane A., Forzano, Francesca, Meins, Moritz, Simola, Kalle O.J., Raas-Rothschild, Annick, Schultz, Roger A., McDaniel, Lisa D., Ozono, Keiichi, Inui, Koji, Zou, Hui, Jabs, Ethylin Wang

“…Roberts syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, craniofacial abnormalities and limb reduction. Cellular…”
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Pathologic Findings and Toxin Identification in Cyanobacterial (Nodularia spumigena) Intoxication in a Dog by Simola, O., Wiberg, M., Jokela, J., Wahlsten, M., Sivonen, K., Syrjä, P.

“…A 3-year-old Cairn Terrier dog that had been in contact with sea water containing cyanobacteria (blue-green algae) was euthanized because of acute hepatic…”
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Transgenic Cows That Produce Recombinant Human Lactoferrin in Milk Are Not Protected from Experimental Escherichia coli Intramammary Infection by Hyvönen, P, Suojala, L, Orro, T, Haaranen, J, Simola, O, Røntved, C, Pyörälä, S

“…This is the first study describing an experimental mastitis model using transgenic cows expressing recombinant human lactoferrin (rhLf) in their milk. The aim…”
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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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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype by Botzenhart, Elke M., Green, Andrew, Ilyina, Helena, König, Rainer, Lowry, R. Brian, Lo, Ivan F. M., Shohat, Mordechai, Burke, Leah, McGaughran, Julie, Chafai, Ronit, Pierquin, Geneviève, Michaelis, Ron C, Whiteford, Margo L., Simola, Kalle O. J., Rösler, Bernd, Kohlhase, Jürgen

“…Townes‐Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb…”
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Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause by Hannula, Katariina, Lipsanen-Nyman, Marita, Kristo, Paula, Kaitila, Ilkka, Simola, Kalle O. J, Lenko, Hanna Liisa, Tapanainen, Paivi, Holmberg, Christer, Kere, Juha

“…Many short-statured children lack an etiologic explanation for their retarded growth. Recently, uniparental disomy (UPD), the inheritance of both chromosomes…”
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients by HOORNAERT, Kristien P, VEREECKE, Inge, CORMIER-DAIRE, Valerie, DE DIE-SMULDERS, Christine, DIEUX-COESLIER, Anne, DOLLFUS, Hélène, ELTING, Mariet, GREEN, Andrew, GUERCI, Veronica I, HENNEKAM, Raoul Cm, HILHORTS-HOFSTEE, Yvonne, HOLDER, Muriel, DEWINTER, Chantal, HOYNG, Carel, JONES, Kristi J, JOSIFOVA, Dragana, KAITILA, Ilkka, KJAERGAARD, Suzanne, KROES, Yolande H, LAGERSTEDT, Kristina, LEES, Melissa, LEMERRER, Martine, MAGNANI, Cinzia, ROSENBERG, Thomas, MARCELIS, Carlo, MARTORELL, Loreto, MATHIEU, Michèle, MCENTAGART, Meriel, MENDICINO, Angela, MORTON, Jenny, ORAZIO, Gabrielli, PAQUIS, Véronique, REISH, Orit, SIMOLA, Kalle Oj, BEEMER, Frits A, SMITHSON, Sarah F, TEMPLE, Karen I, VAN AKEN, Elisabeth, VAN BEVER, Yolande, VAN DEN ENDE, Jenneke, VAN HAGEN, Johanna M, ZELANTE, Leopoldo, ZORDANIA, Riina, DE PAEPE, Anne, LEROY, Bart P, LEROY, Jules G, DE BUYZERE, Marc, COUCKE, Paul J, MORTIER, Geert R, BENDIX, Laila, BJÖRCK, Erik, BONDUELLE, Maryse, BOUTE, Odile

“…Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more…”
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Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families by Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G. M., Mustonen, A., Simola, K. O. J., Arslan‐Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. A., Koch, H. G.

“…A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases…”
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Usher's syndrome type 3 in Finland by Pakarinen, L, Karjalainen, S, Simola, K O, Laippala, P, Kaitalo, H

“…Usher's syndrome, type 3 (USH3) is characterized by progressive hearing loss. Usher's syndrome, type 3 has been supposed to be rare, occurring in 2% to 4% of…”
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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome by Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang

“…Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid…”
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Analysis of p53 tumor suppressor gene in families with multiple glioma patients by PAUNU, Niina, SYRJÄKOSKI, Kirsi, SANKILA, Risto, SIMOLA, Kalle O. J, HELEN, Pauli, NIEMELÄ, Mika, MATIKAINEN, Mika, ISOLA, Jorma, HAAPASALO, Hannu

“…The high incidence of gliomas in Li-Fraumeni families and the high frequency of somatic p53 mutations in sporadic glial tumors have raised the possibility that…”
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Applicability of a checklist for clinical screening of the fragile X syndrome by Arvio, M., Peippo, M., Simola, K. O. J.

“…In a population of 340000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (> 16 years) known to the District Organisation for the…”
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Repeatability of Myodegeneration Scoring in Broiler Wooden Breast Myopathy by Sihvo, H.-K., Airas, N., Simola, O., Meyerholz, D.K.

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Generalized Toxoplasmosis in Five Cats by Simola, O., Jokelainen, P.

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835PCYP11A1 inhibition as a therapeutic approach for the treatment of castration resistant prostate cancer by Oksala, R, Räsänen, K, Karimaa, M, Riikonen, R, Ramela, M, Vehmaan-Kreula, P, Simola, O, Rummakko, P, Wohlfahrt, G, Mustonen, M

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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth by Revencu, N., Boon, L.M., Dompmartin, A., Rieu, P., Busch, W.L., Dubois, J., Forzano, F., van Hagen, J.M., Halbach, S., Kuechler, A., Lachmeijer, A.M.A., Lähde, J., Russell, L., Simola, K.O.J., Mulliken, J.B., Vikkula, M.

“…The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous…”
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