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38 enregistrements « 2 de 4 »

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.

Article de revue

Mitochondrial DNA A DNA Mapp Seq Anal, 29 (7), 2018.

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.

Article de revue

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

Résumé | 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.

Article de revue

Sci Rep, 7 (1), 2017.

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.

Article de revue

Arch Med Sci, 12 (3), 2016.

Résumé | Liens:

Audere M, Rutka K, Inaskina I, Peculis R, Sepetiene S, Valeina S, Lace B

Genetic linkage studies of a North Carolina macular dystrophy family.

Article de revue

Medicina (Kaunas), 52 (3), 2016.

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.

Article de revue

BMC Musculoskelet Disord, 17 , 2016.

Résumé | Liens:

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

A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.

Article de revue

Hum Hered, 82 (3-4), 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.

Article de revue

Am J Hum Genet, 98 (4), 2016.

Résumé | Liens:

Audere M, Rutka K, Sepetiene S, Lace B

Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa.

Article de revue

Case Rep Ophthalmol Med, 2015 , 2015.

Résumé | Liens:

Peculis R, Lace B, Putnina A, Nikitina-Zake L, Klovins J

HFE-related hemochromatosis risk mutations in Latvian population.

Article de revue

Ann Hematol, 94 (2), 2015.

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38 enregistrements « 2 de 4 »
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