Search Results - "Vajter M"

PCR94 Leber Hereditary Optic Neuropathy in Czechia and Slovakia: Quality of Life and Costs From Patient Perspective.

Authors: Bušanyová, B. Vajter, M. Kelifová, S. et al.

Source: Value in Health. 2024 Supplement, Vol. 27 Issue 12, pS523-S523. 1p.

Targeted antisense oligonucleotide therapy rescues PRPF31 expression in retinitis pigmentosa caused by a splicing mutation.

Authors: Banik P Zimmann F Thakur PK et al.

Source: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2026 Jun 03. Date of Electronic Publication: 2026 Jun 03.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.

Authors: Moye AR McCafferty CL Lin S et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 582-599. Date of Electronic Publication: 2026 Feb 24.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Authors: Quinodoz M Rodenburg K Cvackova Z et al.

Source: Nature genetics [Nat Genet] 2026 Jan; Vol. 58 (1), pp. 169-179. Date of Electronic Publication: 2026 Jan 09.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.

Authors: Jedlickova J Vajter M Barta T et al.

Source: Clinical genetics [Clin Genet] 2023 Oct; Vol. 104 (4), pp. 418-426. Date of Electronic Publication: 2023 Jun 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Authors: Quinodoz M Rodenburg K Cvackova Z et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jan 06. Date of Electronic Publication: 2025 Jan 06.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Leber hereditary optic neuropathy in Czechia and Slovakia: Quality of life and costs from patient perspective.

Authors: Bušányová B Vajter M Kelifová S et al.

Source: Heliyon [Heliyon] 2024 May 31; Vol. 10 (11), pp. e32296. Date of Electronic Publication: 2024 May 31 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101672560 Publication Model: eCollection Cited Medium: Print ISSN: 2405-8440 (Print) Linking ISSN: 24058440 NLM ISO Abbreviation: Heliyon Subsets: PubMed not MEDLINE

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

Authors: Vergaro A Pankievic M Jedlickova J et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 27; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 27.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Authors: Hitti-Malin RJ Panneman DM Corradi Z et al.

Source: Biomolecules [Biomolecules] 2024 Mar 19; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 19.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE