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Page 1
Case Report: Two Families With HPDL Related Neurodegeneration.
Micule I, Lace B, Wright NT, Chrestian N, Strautmanis J, Diriks M, Stavusis J, Kidere D, Kleina E, Zdanovica A, Laflamme N, Rioux N, Setty ST, Pajusalu S, Droit A, Lek M, Rivest S, Inashkina I. Micule I, et al. Among authors: lace b. Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022. Front Genet. 2022. PMID: 35222531 Free PMC article.
BCL3 gene role in facial morphology.
Lace B, Kempa I, Klovins J, Stavusis J, Krumina A, Akota I, Barkane B, Vieira AR, Nagle E, Grinfelde I, Maulina I. Lace B, et al. Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):918-24. doi: 10.1002/bdra.23085. Epub 2012 Nov 1. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 23115114
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
Lace B, Inashkina I, Micule I, Vasiljeva I, Naudina MS, Strautmanis J, Stavusis J, Jankevics E. Lace B, et al. Case Rep Neurol Med. 2013;2013:254950. doi: 10.1155/2013/254950. Epub 2013 Aug 19. Case Rep Neurol Med. 2013. PMID: 24024053 Free PMC article.
CAV3 gene sequence variations: National Genome Database and clinics.
Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina MS, Utkus A, Burnyte B, Lace B. Stavusis J, et al. Among authors: lace b. Acta Neurol Scand. 2015 Sep;132(3):185-90. doi: 10.1111/ane.12369. Epub 2015 Jan 28. Acta Neurol Scand. 2015. PMID: 25630502
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU. Mangold E, et al. Among authors: lace b. Am J Hum Genet. 2016 Apr 7;98(4):755-62. doi: 10.1016/j.ajhg.2016.02.013. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018475 Free PMC article.
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B. Inashkina I, et al. Among authors: lace b. BMC Musculoskelet Disord. 2016 May 4;17:200. doi: 10.1186/s12891-016-1058-z. BMC Musculoskelet Disord. 2016. PMID: 27142102 Free PMC article.
A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.
Stavusis J, Inashkina I, Lace B, Pelnena D, Limborska S, Khrunin A, Kucinskas V, Krumina A, Piekuse L, Zorn B, Fodina V, Punab M, Erenpreiss J. Stavusis J, et al. Among authors: lace b. Hum Hered. 2016;82(3-4):140-146. doi: 10.1159/000481434. Epub 2017 Nov 2. Hum Hered. 2016. PMID: 29131013
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
Pelnena D, Burnyte B, Jankevics E, Lace B, Dagyte E, Grigalioniene K, Utkus A, Krumina Z, Rozentale J, Adomaitiene I, Stavusis J, Pliss L, Inashkina I. Pelnena D, et al. Among authors: lace b. Mitochondrial DNA A DNA Mapp Seq Anal. 2018 Oct;29(7):1115-1120. doi: 10.1080/24701394.2017.1413365. Epub 2017 Dec 12. Mitochondrial DNA A DNA Mapp Seq Anal. 2018. PMID: 29228836
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Stavusis J, Lace B, Schäfer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bönnemann CG. Stavusis J, et al. Among authors: lace b. Ann Neurol. 2019 Jul;86(1):129-142. doi: 10.1002/ana.25494. Epub 2019 May 17. Ann Neurol. 2019. PMID: 31025394 Free PMC article.
65 results