Literature DB >> 16682602

Case of Stargardt disease caused by uniparental isodisomy.

John H Fingert1, David A Eliason, Nicole C Phillips, Andrew J Lotery, Val C Sheffield, Edwin M Stone.   

Abstract

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Year:  2006        PMID： 16682602     DOI： 10.1001/archopht.124.5.744

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  11 in total

1.  Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

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Journal:  Arch Ophthalmol       Date:  2011-01

Review 2.  Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

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Journal:  Prog Retin Eye Res       Date:  2020-04-09       Impact factor: 21.198

Review 3.  An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Authors:  Saoud Al-Khuzaei; Suzanne Broadgate; Charlotte R Foster; Mital Shah; Jing Yu; Susan M Downes; Stephanie Halford
Journal:  Genes (Basel)       Date:  2021-08-13       Impact factor: 4.096

4.  Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Authors:  Marcela D Mena; Angélica A Moresco; Sofía H Vidal; Diana Aguilar-Cortes; María G Obregon; Adriana C Fandiño; Juan M Sendoya; Andrea S Llera; Osvaldo L Podhajcer
Journal:  Front Genet       Date:  2021-03-26       Impact factor: 4.599

5.  Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.

Authors:  R Riveiro-Alvarez; D Valverde; I Lorda-Sanchez; M J Trujillo-Tiebas; D Cantalapiedra; E Vallespin; J Aguirre-Lamban; C Ramos; C Ayuso
Journal:  Mol Vis       Date:  2007-01-26       Impact factor: 2.367

6.  Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.

Authors:  Emmanuelle Souzeau; Jennifer A Thompson; Terri L McLaren; John N De Roach; Christopher P Barnett; Tina M Lamey; Jamie E Craig
Journal:  Mol Vis       Date:  2018-07-21       Impact factor: 2.367

7.  Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange.

Authors:  Jeong Hoon Lee; Solbi Kweon; Yu Rang Park
Journal:  Sci Rep       Date:  2021-01-26       Impact factor: 4.379

8.  Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

Authors:  Fabian A Garces; Jessica F Scortecci; Robert S Molday
Journal:  Int J Mol Sci       Date:  2020-12-27       Impact factor: 5.923

9.  Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.

Authors:  Nobutaka Tachibana; Katsuhiro Hosono; Shuhei Nomura; Shinji Arai; Kaoruko Torii; Kentaro Kurata; Miho Sato; Shuichi Shimakawa; Noriyuki Azuma; Tsutomu Ogata; Yoshinao Wada; Nobuhiko Okamoto; Hirotomo Saitsu; Sachiko Nishina; Yoshihiro Hotta
Journal:  Genes (Basel)       Date:  2022-02-16       Impact factor: 4.096

Review 10.  Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

Authors:  R Riveiro-Alvarez; J Aguirre-Lamban; M Angel Lopez-Martinez; M Jose Trujillo-Tiebas; D Cantalapiedra; E Vallespin; A Avila-Fernandez; C Ramos; C Ayuso
Journal:  Br J Ophthalmol       Date:  2008-10-31       Impact factor: 4.638
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