Search Results - "Gradstein L"

The ocular manifestations of Weissenbacher-Zweymuller syndrome.

Authors: Rabinowitz, R. Gradstein, L. Galil, A. et al.

Source: Eye (0950-222X). Dec2004, Vol. 18 Issue 12, p1258-1263. 6p.

FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel PRPF3 intronic splice variant.

Authors: Dolgin V Eremenko E Narkis G et al.

Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2026 May 08; Vol. 37 (2), pp. 102949. Date of Electronic Publication: 2026 May 08 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.

Authors: Shalom S Gradstein L Pras E et al.

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2026 Apr 01; Vol. 67 (4), pp. 24.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Authors: Poleg T Proskorovski-Ohayon R Dolgin V et al.

Source: Clinical genetics [Clin Genet] 2025 Mar; Vol. 107 (3), pp. 348-353. Date of Electronic Publication: 2024 Nov 25.

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

Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.

Authors: Shalom S Ben-Yosef T Sher I et al.

Source: JAMA ophthalmology [JAMA Ophthalmol] 2024 Jul 01; Vol. 142 (7), pp. 609-616.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

Authors: Freund O Elsana B Agam N et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Nov; Vol. 191 (11), pp. 2768-2774. Date of Electronic Publication: 2023 Aug 24.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

Authors: Gombosh M Yogev Y Hadar N et al.

Source: Clinical genetics [Clin Genet] 2023 Nov; Vol. 104 (5), pp. 571-576. Date of Electronic Publication: 2023 Jun 12.

Publication Type: Case Reports; 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

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

Authors: Wormser O Perez Y Dolgin V et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2023 Aug 14; Vol. 8 (1), pp. 22. Date of Electronic Publication: 2023 Aug 14.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.

Authors: Elsana B Imtirat A Yagev R et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3463-3468. Date of Electronic Publication: 2022 Sep 16.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

PSMC1 variant causes a novel neurological syndrome.

Authors: Aharoni S Proskorovski-Ohayon R Krishnan RK et al.

Source: Clinical genetics [Clin Genet] 2022 Oct; Vol. 102 (4), pp. 324-332. Date of Electronic Publication: 2022 Aug 03.

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

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.

Authors: Halperin D Agam N Hallak M et al.

Source: Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 123-129. Date of Electronic Publication: 2022 May 05.

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

Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.

Authors: Beryozkin A Sher I Ehrenberg M et al.

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Feb 01; Vol. 65 (2), pp. 39.

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

Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

Authors: David O Eskin-Schwartz M Ling G et al.

Source: Clinical genetics [Clin Genet] 2020 Sep; Vol. 98 (3), pp. 303-307. Date of Electronic Publication: 2020 Aug 03.

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

Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families.

Authors: Dinur AB Buchbut O Gradstein L et al.

Source: Rambam Maimonides medical journal [Rambam Maimonides Med J] 2024 Jan 19; Vol. 15 (1). Date of Electronic Publication: 2024 Jan 19.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Rambam Heath Care Campus] Country of Publication: Israel NLM ID: 101538065 Publication Model: Electronic Cited Medium: Print ISSN: 2076-9172 (Print) Linking ISSN: 20769172 NLM ISO Abbreviation: Rambam Maimonides Med J Subsets: PubMed not MEDLINE

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.

Authors: Halperin D Drabkin M Wormser O et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1506-1512. Date of Electronic Publication: 2020 Mar 31.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).

Authors: Sharon D Ben-Yosef T Goldenberg-Cohen N et al.

Source: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 140-149. Date of Electronic Publication: 2019 Sep 15.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES].

Authors: Sharon D Ben-Yosef T Pras E et al.

Source: Harefuah [Harefuah] 2019 Feb; Vol. 158 (2), pp. 91-95.

Publication Type: Journal Article

Journal Info: Publisher: Israel Medical Association Country of Publication: Israel NLM ID: 0034351 Publication Model: Print Cited Medium: Print ISSN: 0017-7768 (Print) Linking ISSN: 00177768 NLM ISO Abbreviation: Harefuah Subsets: MEDLINE

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Authors: Wormser O Gradstein L Kadar E et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2695-2703. Date of Electronic Publication: 2018 Dec 04.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Ocular manifestations of congenital insensitivity to pain: a long-term follow-up.

Authors: Elsana B Gradstein L Imtirat A et al.

Source: The British journal of ophthalmology [Br J Ophthalmol] 2022 Sep; Vol. 106 (9), pp. 1217-1221. Date of Electronic Publication: 2021 Mar 22.

Publication Type: Journal Article; Review

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2079 (Electronic) Linking ISSN: 00071161 NLM ISO Abbreviation: Br J Ophthalmol Subsets: MEDLINE

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.

Authors: Kruijt CC Gradstein L Bergen AA et al.

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2022 Jan 03; Vol. 63 (1), pp. 19.

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

Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE