Search Results - "Ruddle JB"

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.

Authors: Cohn AC Turnbull C Ruddle JB et al.

Source: Eye (0950-222X). Feb2011, Vol. 25 Issue 2, p208-217. 10p.

Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma.

Authors: Maxwell GE Schmidt JM Kolovos A et al.

Source: JAMA ophthalmology [JAMA Ophthalmol] 2026 Jun 01; Vol. 144 (6), pp. 517-526.

Publication Type: Journal Article; Observational 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

Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.

Authors: Gocuk SA Surendran SA Dawkins RCH et al.

Source: Case reports in ophthalmology [Case Rep Ophthalmol] 2025 Dec 05; Vol. 17 (1), pp. 39-46. Date of Electronic Publication: 2025 Dec 05 (Print Publication: 2026).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Karger AG Country of Publication: Switzerland NLM ID: 101532006 Publication Model: eCollection Cited Medium: Print ISSN: 1663-2699 (Print) Linking ISSN: 16632699 NLM ISO Abbreviation: Case Rep Ophthalmol Subsets: PubMed not MEDLINE

Characterising microstructural retinal changes in children with inherited retinal dystrophies - a retrospective observational cross-sectional study.

Authors: Holland J Rodda B Ruddle JB et al.

Source: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2025 Dec; Vol. 263 (12), pp. 3537-3545. Date of Electronic Publication: 2025 Oct 15.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 8205248 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-702X (Electronic) Linking ISSN: 0721832X NLM ISO Abbreviation: Graefes Arch Clin Exp Ophthalmol Subsets: MEDLINE

Paediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes.

Authors: Gocuk SA Shahzad A Ayton L et al.

Source: BMJ open ophthalmology [BMJ Open Ophthalmol] 2025 May 27; Vol. 10 (1). Date of Electronic Publication: 2025 May 27.

Publication Type: Journal Article; Review

Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101714806 Publication Model: Electronic Cited Medium: Internet ISSN: 2397-3269 (Electronic) Linking ISSN: 23973269 NLM ISO Abbreviation: BMJ Open Ophthalmol Subsets: MEDLINE

Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to Prostatectomy.

Authors: Liow E Howard N Jung CH et al.

Source: Clinical genitourinary cancer [Clin Genitourin Cancer] 2022 Oct; Vol. 20 (5), pp. 452-458. Date of Electronic Publication: 2022 May 18.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101260955 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-0682 (Electronic) Linking ISSN: 15587673 NLM ISO Abbreviation: Clin Genitourin Cancer Subsets: MEDLINE

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.

Authors: Knight LSW Mullany S Taranath DA et al.

Source: Molecular vision [Mol Vis] 2022 Sep 04; Vol. 28, pp. 257-268. Date of Electronic Publication: 2022 Sep 04 (Print Publication: 2022).

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

Journal Info: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

Expanding the phenotype of mucopolysaccharidosis type II retinopathy.

Authors: Kowalski T Ruddle JB de Jong G et al.

Source: Ophthalmic genetics [Ophthalmic Genet] 2021 Oct; Vol. 42 (5), pp. 631-636. Date of Electronic Publication: 2021 Jul 12.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Authors: Heath Jeffery RC Thompson JA Lo J et al.

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 May 01; Vol. 65 (5), pp. 22.

Publication Type: 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

Optical coherence tomography in children with inherited retinal disease.

Authors: Jolly JK Rodda BM Edwards TL et al.

Source: Clinical & experimental optometry [Clin Exp Optom] 2024 Apr; Vol. 107 (3), pp. 255-266. Date of Electronic Publication: 2024 Jan 22.

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

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 8703442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1444-0938 (Electronic) Linking ISSN: 08164622 NLM ISO Abbreviation: Clin Exp Optom Subsets: MEDLINE

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.

Authors: Britten-Jones AC Schultz J Mack HG et al.

Source: Scientific reports [Sci Rep] 2024 Mar 05; Vol. 14 (1), pp. 5403. Date of Electronic Publication: 2024 Mar 05.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.

Authors: Siggs OM Awadalla MS Souzeau E et al.

Source: Clinical genetics [Clin Genet] 2020 May; Vol. 97 (5), pp. 764-769. Date of Electronic Publication: 2020 Mar 05.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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

Comparison between surgical outcomes of glaucoma drainage implant surgery performed with and without intraluminal stent.

Authors: Tao LW Atik A Kwon HJ et al.

Source: Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2020 May; Vol. 48 (4), pp. 525-528. Date of Electronic Publication: 2020 Feb 05.

Publication Type: Letter

Journal Info: Publisher: Wiley-Blackwell Pub. Asia Country of Publication: Australia NLM ID: 100896531 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1442-9071 (Electronic) Linking ISSN: 14426404 NLM ISO Abbreviation: Clin Exp Ophthalmol Subsets: MEDLINE

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

Authors: Waseem NH Low S Shah AZ et al.

Source: PLoS genetics [PLoS Genet] 2020 Apr 27; Vol. 16 (4), pp. e1008721. Date of Electronic Publication: 2020 Apr 27 (Print Publication: 2020).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.

Authors: Siggs OM Souzeau E Breen J et al.

Source: Molecular vision [Mol Vis] 2019 Sep 21; Vol. 25, pp. 527-534. Date of Electronic Publication: 2019 Sep 21 (Print Publication: 2019).

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

Journal Info: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

Authors: Siggs OM Souzeau E Pasutto F et al.

Source: JAMA ophthalmology [JAMA Ophthalmol] 2019 Apr 01; Vol. 137 (4), pp. 348-355.

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

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

Traumatic eye injury from an exploding aerosol can.

Authors: Chandra V Liu L Ruddle JB

Source: The Medical journal of Australia [Med J Aust] 2019 Mar; Vol. 210 (4), pp. 154. Date of Electronic Publication: 2019 Feb 13.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Australasian Medical Publishing Co Country of Publication: Australia NLM ID: 0400714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1326-5377 (Electronic) Linking ISSN: 0025729X NLM ISO Abbreviation: Med J Aust Subsets: MEDLINE

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.

Authors: Han X Souzeau E Ong JS et al.

Source: JAMA ophthalmology [JAMA Ophthalmol] 2019 Jan 01; Vol. 137 (1), pp. 28-35.

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

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

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis.

Authors: Maccora KA Souzeau E Ruddle JB et al.

Source: Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2018 Nov; Vol. 46 (8), pp. 962-964. Date of Electronic Publication: 2018 May 29.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Wiley-Blackwell Pub. Asia Country of Publication: Australia NLM ID: 100896531 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1442-9071 (Electronic) Linking ISSN: 14426404 NLM ISO Abbreviation: Clin Exp Ophthalmol

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

Authors: Mackey DA Ong JS MacGregor S et al.

Source: American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 170-176. Date of Electronic Publication: 2022 Dec 23.

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

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