Baiba Lace

Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Levesque S, Maranda B

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

Mol Genet Genomic Med, p. e1000, 2019.

Résumé | Liens:

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Am J Hum Genet, 105 (2), p. 384-394, 2019, ISSN: 0002-9297.

Résumé | Liens:

Stavusis J, Lace B, Schafer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bonnemann CG

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

Ann Neurol, 86 (1), p. 129-142, 2019, ISSN: 0364-5134.

Résumé | Liens:

Puisac B, Marcos-Alcalde I, Hernandez-Marcos M, Tobajas Morlana P, Levtova A, Schwahn BC, DeLaet C, Lace B, Gomez-Puertas P, Pie J

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Int J Mol Sci, 19 (4), 2018.

Résumé | Liens:

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

Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.

Mitochondrial DNA A DNA Mapp Seq Anal, 29 (7), p. 1115-1120, 2018, ISSN: 2470-1394.

Résumé | Liens:

Krumina A, Pliss L, Zarina G, Puzuka A, Zarina A, Lace B, Elferts D, Khrunin A, Limborska S, Klovins J, Gailite L

Population genetics of Latvians in the context of admixture between north-eastern European ethnic groups

Proc Latv Acad Sci B Nat Exact Appl Sci, 72 (3), p. 131-151, 2018, ISSN: 1407-009X.

| Liens:

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

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

Sci Rep, 7 (1), p. 7512, 2017, ISSN: 2045-2322.

Résumé | Liens:

Kreile M, Piekuse L, Rots D, Dobele Z, Kovalova Z, Lace B

Analysis of possible genetic risk factors contributing to development of childhood acute lymphoblastic leukaemia in the Latvian population.

Arch Med Sci, 12 (3), p. 479-85, 2016, ISSN: 1734-1922.

Résumé | Liens:

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

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

BMC Musculoskelet Disord, 17 , p. 200, 2016.

Résumé | Liens:

Mangold E, Bohmer AC, Ishorst N, Hoebel AK, Gultepe P, Schuenke H, Klamt J, Hofmann A, Golz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jager A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nothen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.

Am J Hum Genet, 98 (4), p. 755-62, 2016, ISSN: 0002-9297.

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