Search Results

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

• Authors : Meinert, M.; Englund, E.; Oldfors Hedberg, Carola, 1969

Subjects: Medical Genetics and Genomics; Medicinsk genetik och genomik; Danon disease

• Source: Ophthalmic Genetics. 40(3):227-236

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A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.

• Authors : Hikoya, Akiko¹ (AUTHOR) ; Hosono, Katsuhiro¹ (AUTHOR); Ono, Kaoru¹ (AUTHOR)

• Source: Ophthalmic Genetics. Oct2023, Vol. 44 Issue 5, p480-485. 6p.

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Estrogen-related polymorphisms in Estonian patients with age-related cataract.

• Authors : Skiljic, Dragana, 1985; Nilsson, Staffan, 1956; Palmér, Mona Seibt

Subjects: Genetics and Genomics; Genetik och genomik; Ophthalmology

• Source: Ophthalmic Genetics. 36(2):188-191

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Genetic Variation of Superoxide Dismutases in Patients with Primary Open-angle Glaucoma

• Authors : Celojevic, Dragana, 1985; Nilsson, Staffan, 1956; Kalaboukhova, Lada, 1975

Subjects: Genetics and Genomics; Genetik och genomik; Ophthalmology

• Source: Ophthalmic Genetics. 35(2):79-84

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Superoxide dismutase gene polymorphisms in patients with age-related cataract

• Authors : Celojevic, Dragana, 1985; Nilsson, Staffan, 1956; Behndig, Anders

Subjects: Genetics and Genomics; Genetik och genomik; Ophthalmology

• Source: Ophthalmic genetics. 34(3):140-145

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The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.

• Authors : Liu, Zhenhui¹ (AUTHOR); Guo, Ju² (AUTHOR); Pan, Meng² (AUTHOR)

• Source: Ophthalmic Genetics. Jun2023, Vol. 44 Issue 3, p262-270. 9p.

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A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

• Authors : Maamouri, Rym^1,2 (AUTHOR); Hizem, Syrine^2,3 (AUTHOR) ; Kammoun, Ines^2,4 (AUTHOR)

• Source: Ophthalmic Genetics. Jun2023, Vol. 44 Issue 3, p304-312. 9p.

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Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.

• Authors : Jung, SeungHee¹ (AUTHOR); Park, Young Chan^1,2 (AUTHOR); Lee, DongHee^1,2 (AUTHOR)

• Source: Ophthalmic Genetics. Apr2023, Vol. 44 Issue 2, p163-170. 8p.

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Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary open-angle glaucoma

• Authors : Zetterberg, Madeleine, 1969; Tasa, Gunnar; Palmér, Mona Seibt

Subjects: Genetics and Genomics; Genetik och genomik; Ophthalmology

• Source: OPHTHALMIC GENETICS. 28(2):47-50

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Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome.

• Authors : Choi, Jae-Hwan¹ (AUTHOR); Kim, Su-Jin² (AUTHOR); Thomas, Mervyn G.³ (AUTHOR)

• Source: Ophthalmic Genetics. Oct2021, Vol. 42 Issue 5, p561-569. 9p.

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