Zhytnik L - Search Results

1

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

Maasalu K, Nikopensius T, Kõks S, Nõukas M, Kals M, Prans E, Zhytnik L, Metspalu A, Märtson A. Maasalu K, et al. Among authors: zhytnik l. Hum Genomics. 2015 May 10;9(1):6. doi: 10.1186/s40246-015-0028-0. Hum Genomics. 2015. PMID: 25958000 Free PMC article.

2

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

Ho Duy B, Zhytnik L, Maasalu K, Kändla I, Prans E, Reimann E, Märtson A, Kõks S. Ho Duy B, et al. Among authors: zhytnik l. Hum Genomics. 2016 Aug 12;10(1):27. doi: 10.1186/s40246-016-0083-1. Hum Genomics. 2016. PMID: 27519266 Free PMC article.

3

The clinical features of osteogenesis imperfecta in Vietnam.

Binh HD, Maasalu K, Dung VC, Ngoc CT, Hung TT, Nam TV, Nhan LN, Prans E, Reimann E, Zhytnik L, Kõks S, Märtson A. Binh HD, et al. Among authors: zhytnik l. Int Orthop. 2017 Jan;41(1):21-29. doi: 10.1007/s00264-016-3315-z. Epub 2016 Nov 2. Int Orthop. 2017. PMID: 27807717

4

Featured Article: Transcriptional landscape analysis identifies differently expressed genes involved in follicle-stimulating hormone induced postmenopausal osteoporosis.

Maasalu K, Laius O, Zhytnik L, Kõks S, Prans E, Reimann E, Märtson A. Maasalu K, et al. Among authors: zhytnik l. Exp Biol Med (Maywood). 2017 Jan;242(2):203-213. doi: 10.1177/1535370216679899. Epub 2016 Nov 20. Exp Biol Med (Maywood). 2017. PMID: 27856519 Free PMC article.

5

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

Zhytnik L, Maasalu K, Reimann E, Prans E, Kõks S, Märtson A. Zhytnik L, et al. Hum Genomics. 2017 Aug 15;11(1):19. doi: 10.1186/s40246-017-0115-5. Hum Genomics. 2017. PMID: 28810924 Free PMC article.

6

De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta.

Zhytnik L, Maasalu K, Duy BH, Pashenko A, Khmyzov S, Reimann E, Prans E, Kõks S, Märtson A. Zhytnik L, et al. Mol Genet Genomic Med. 2019 Mar;7(3):e559. doi: 10.1002/mgg3.559. Epub 2019 Jan 24. Mol Genet Genomic Med. 2019. PMID: 30675999 Free PMC article.

7

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.

Zhytnik L, Maasalu K, Duy BH, Pashenko A, Khmyzov S, Reimann E, Prans E, Kõks S, Märtson A. Zhytnik L, et al. Hum Genomics. 2019 Jun 3;13(1):25. doi: 10.1186/s40246-019-0209-3. Hum Genomics. 2019. PMID: 31159867 Free PMC article.

8

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.

Zhytnik L, Maasalu K, Pashenko A, Khmyzov S, Reimann E, Prans E, Kõks S, Märtson A. Zhytnik L, et al. Front Genet. 2019 Aug 9;10:722. doi: 10.3389/fgene.2019.00722. eCollection 2019. Front Genet. 2019. PMID: 31447884 Free PMC article.

9

Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Zhytnik L, Maasalu K, Reimand T, Duy BH, Kõks S, Märtson A. Zhytnik L, et al. Clin Transl Sci. 2020 Sep;13(5):960-971. doi: 10.1111/cts.12783. Epub 2020 Apr 3. Clin Transl Sci. 2020. PMID: 32166892 Free PMC article.

10

Reproductive options for families at risk of Osteogenesis Imperfecta: a review.

Zhytnik L, Simm K, Salumets A, Peters M, Märtson A, Maasalu K. Zhytnik L, et al. Orphanet J Rare Dis. 2020 May 27;15(1):128. doi: 10.1186/s13023-020-01404-w. Orphanet J Rare Dis. 2020. PMID: 32460820 Free PMC article. Review.

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