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Jānis Stāvusis
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Phone: +371 67808200
E-mail:
janis.stavusis@biomed.lu.lv
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International
A New Baltic Population Specific Human Genetic Marker in the PMCA4 Gene J Stāvusis, I Iņaškina, B Lāce, D Pelnēna, Limborska S, Khrunin A, Kucinskas V, Krumina A, Piekuse L, Zorn B, Fodina V, Punab M,, J Ērenpreiss , Human Heredity, 82 (3-4), pp. 140-146 , 2017
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome D Pelnēna, Burnyte, B., Jankevics, E.,, B Lāce, Dagyte, E., Grigalioniene, K., Utkus, A., Krumina, Z., Rozentale, J., Adomaitiene, I., J Stāvusis, L Pliss, I Iņaškina , Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis, pp. 1-6. PMID: 29228836 , 2017
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies I Iņaškina, Ē Jankevics, J Stāvusis, I Vasiļjeva, K Vīksne, Micule, I., Strautmanis, J., Naudina, M.S., Cimbalistiene, L., Kucinskas, V., Krumina, A., Utkus, A., Burnyte, B., Matuleviciene, A., B Lāce , Musculoskeletal Disorders, 17 (1), art. no. 1058 , 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate Mangold, E., Böhmer, A.C., Ishorst, N., Hoebel, A.-K., Gültepe, P., Schuenke, H., Klamt, J., Hofmann, A., Gölz, L., Raff, R., Tessmann, P., Nowak, S., Reutter, H., Hemprich, A., Kreusch, T., Kramer, F.-J., Braumann, B., Reich, R., Schmidt, G., Jäger, A., , J Stāvusis, Ishida, M., Seselgyte, R., Moore, G.E., Nöthen, M.M., Borck, G., Aldhorae, K.A., B Lāce, Stanier, P., Knapp, M., Ludwig, K.U. , American Journal of Human Genetics, 98 (4), pp. 755-762 , 2016
CAV3 gene sequence variations: National Genome Database and clinics J Stāvusis, I Iņaškina, Ē Jankevics, I Radoviča-Spalviņa, Stavusis, J., Inashkina, I., Jankevics, E., Radovica, I., Micule, I., Strautmanis, J., Naudina, M.S., Utkus, A., Burnyte, B., B Lāce , Acta Neurologica Scandinavica , 2015
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy. B Lāce, I Iņaškina, Micule I, I Vasiļjeva, Naudina MS, Strautmanis J, J Stāvusis, Ē Jankevics , Case Rep Neurol Med. 2013:254950. , 2013
Local
Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations. Kempa I, Ambrozaitytė L, J Stāvusis, Akota I, Barkane B, A Krūmiņa, Matulevičienė A, Utkus A, Kučinskas V, B Lāce , Stomatologija, 16(3):94-101 , 2014
Patents
A kit for detecting mutation or polymorphism in the human mitochondrial DNA Ē Jankevics, I Iņaškina, D Pelnēna, J Stāvusis, L Pliss , Europena Patent Office, Application number EP15166675.7 , 2015
A test kit for detecting mutations associated with Limb-Girdle Muscular Dystrophies Type-2 B Lāce, Ē Jankevics, I Iņaškina, I Vasiļjeva, J Stāvusis, Micule I, Naudina M, Strautmanis J. , European Patent Register EP2801621 , 2013
Conference thesis
Side road of next generation sequencing data analysis B Lāce, Ē Jankevics, I Iņaškina, I Silamiķelis, J Stāvusis , A Magyar Humángenetikai Társaság X. Kongresszusa, Budapešta, Ungārija , 2014
Genetic variants in SKI, FGFR1, WNT3, IRF6 and BMP4 genes are associated with risk for non-syndromic CL/CLP and/or CP in Latvian population Kempa L, Piekuse I, Akota B, Barkane A, A Krūmiņa, J Stāvusis, J Kloviņš, B Lāce , European Journal of Human Genetics, Volume 21, Suppl. 2. , 2013
Decade of raised awareness of neuromuscular diseases in Latvia B Lāce, I Iņaškina, Naudina S, J Stāvusis, I Vasiļjeva, Krumina Z, Pronina N, Micule I, Strautmanis J, Ē Jankevics , European Journal of Human Genetics, Volume 21, Suppl. 2. , 2013
Limb-girdle muscle dystrophies mutation analysis in Latvian and Lithuanian patients using Illumina’s VeraCode GoldenGate Genotyping Assay I Iņaškina, J Stāvusis, I Vasiļjeva, Ē Jankevics, Micule I, B Lāce , European Journal of Human Genetics, Volume 21. Suppl. 2. , 2013
Study of gene Caveolin3 in Latvian population. J Stāvusis, B Lāce, I Iņaškina, Ē Jankevics, I Radoviča-Spalviņa , European J Hum Gen, 20 Suppl. 1: p391-392. , 2012
New non-invasive test for Limb Girdle Muscle Dystrophies type 2. B Lāce, I Iņaškina, Ē Jankevics, I Vasiļjeva, Naudina M, Strautmanis J, J Stāvusis, Micule I , European J Hum Gen, 2012, 20 Suppl. 1: p274. , 2012
Limb Girdle muscle dystrophies mutation analysis using Illumina’s VeraCode GoldenGate Genotyping Assay. I Iņaškina, I Vasiļjeva, Ē Jankevics, J Stāvusis, Micule B, B Lāce , European J Hum Gen, 2012, 20 Suppl. 1: p274. , 2012
BCL3 gene role in facial morphology. B Lāce, Kempa I, J Stāvusis, A Krūmiņa, Akota I, Barkāne B, Vieira A, Nagle E, Grinfelde I, Mauliņa I , Translation Genetics - Advancing Fronts for Craniofacial Health. Pittsburgh, USA. Abstracts, p12. , 2012
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Mājas lapas izstrādi finansēja ERAF 2.1.1.2. aktivitātes projekts Nr. 2010/0196/2DP/2.1.1.2.0/10/APIA/VIAA/004 "Latvijas biomedicīnas pētījumu integrācija Eiropas zinātnes telpā".