Lace B - Search Results

1

A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.

Pal M, Lace B, Labrie Y, Laflamme N, Rioux N, Setty ST, Dugas MA, Gosselin L, Droit A, Chrestian N, Rivest S. Pal M, et al. Among authors: lace b. JIMD Rep. 2021 Feb 23;59(1):32-41. doi: 10.1002/jmd2.12196. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977028 Free PMC article.

2

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

Picher-Martel V, Labrie Y, Rivest S, Lace B, Chrestian N. Picher-Martel V, et al. Among authors: lace b. BMC Neurol. 2020 Feb 15;20(1):58. doi: 10.1186/s12883-020-01643-1. BMC Neurol. 2020. PMID: 32061250 Free PMC article.

3

Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panadés-de Oliveira L, Domínguez-González C, Inashkina I, Kidere D, Chrestian N, Lace B. Stavusis J, et al. Among authors: lace b. Neuromuscul Disord. 2020 Jun;30(6):483-491. doi: 10.1016/j.nmd.2020.03.010. Epub 2020 Apr 18. Neuromuscul Disord. 2020. PMID: 32448721

4

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.

Laflamme N, Lace B, Thonta Setty S, Rioux N, Labrie Y, Droit A, Chrestian N, Rivest S. Laflamme N, et al. Among authors: lace b. Front Neurol. 2021 Jun 15;12:660113. doi: 10.3389/fneur.2021.660113. eCollection 2021. Front Neurol. 2021. PMID: 34211429 Free PMC article.

5

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.

6

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.

Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B. Waters PJ, et al. Among authors: lace b. Mol Genet Genomic Med. 2019 Dec;7(12):e1000. doi: 10.1002/mgg3.1000. Epub 2019 Oct 26. Mol Genet Genomic Med. 2019. PMID: 31654490 Free PMC article.

7

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT. Cipriani V, et al. Among authors: lace b. Sci Rep. 2017 Aug 8;7(1):7512. doi: 10.1038/s41598-017-06387-6. Sci Rep. 2017. PMID: 28790370 Free PMC article.

8

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

9

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.

10

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

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