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Publication : european journal of human genetics

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Academic Journal

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Authors : Shanks, Morag E¹; Downes, Susan M²; Copley, Richard R¹

Source: European Journal of Human Genetics. Mar2013, Vol. 21 Issue 3, p274-280. 7p. 1 Diagram, 3 Charts, 2 Graphs.

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Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Authors : Tuppen, HAL; Naess, K; Kennaway, NG

Source: EUROPEAN JOURNAL OF HUMAN GENETICS. 20(8):897-904

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Academic Journal

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

Authors : Andreassi, Catia¹; Angelozzi, Carla¹; Tiziano, Francesco D.¹

Source: European Journal of Human Genetics. Jan2004, Vol. 12 Issue 1, p2-15. 14p.

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Academic Journal

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Authors : Keen, T Jeffrey; Mohamed, Moin D; McKibbin, Martin

Source: European Journal of Human Genetics. May2003, Vol. 11 Issue 5, p420. 4p.

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Academic Journal

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

Authors : Al-Maawali, Almundher¹; Dupuis, Lucie²; Blaser, Susan³

Source: European Journal of Human Genetics. Mar2015, Vol. 23 Issue 3, p310-316. 7p.

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Academic Journal

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Authors : Glöckle, Nicola¹; Kohl, Susanne²; Mohr, Julia¹

Source: European Journal of Human Genetics. Jan2014, Vol. 22 Issue 1, p99-104. 6p.

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Academic Journal

Understanding the impact of genetic testing for inherited retinal dystrophy.

Authors : Combs, Ryan¹; McAllister, Marion²; Payne, Katherine¹

Source: European Journal of Human Genetics. Nov2013, Vol. 21 Issue 11, p1209-1213. 5p.

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Academic Journal

Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration.

Authors : Ardeljan, Daniel¹; Meyerle, Catherine B²; Agron, Elvira²

Source: European Journal of Human Genetics. Oct2013, Vol. 21 Issue 10, p1152-1157. 6p.

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Academic Journal

Stargardt Disease: towards developing a model to predict phenotype.

Authors : Heathfield, Laura¹; Lacerda, Miguel²; Nossek, Christel¹

Source: European Journal of Human Genetics. Oct2013, Vol. 21 Issue 10, p1173-1176. 4p.

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Academic Journal

In search of triallelism in Bardet-Biedl syndrome.

Authors : Abu-Safieh, Leen¹; Al-Anazi, Shamsa¹; Al-Abdi, Lama¹

Source: European Journal of Human Genetics. Apr2012, Vol. 20 Issue 4, p420-427. 8p. 1 Color Photograph, 2 Charts, 1 Graph.

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فلترة النتائج

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Understanding the impact of genetic testing for inherited retinal dystrophy.

Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration.

Stargardt Disease: towards developing a model to predict phenotype.

In search of triallelism in Bardet-Biedl syndrome.

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