Publications:

Widefield Swept Source OCTA in Retinitis Pigmentosa.

Diagnostics (Basel, Switzerland)

Mastropasqua, Rodolfo R; D'Aloisio, Rossella R; De Nicola, Chiara C; Ferro, Giada G; Senatore, Alfonso A; Libertini, Daniele D; Di Marzio, Guido G; Di Nicola, Marta M; Di Martino, Giuseppe G; Di Antonio, Luca L; Toto, Lisa L

Publication Date: 2020-01-19

Variant appearance in text: USH2A: 9082G>T

PubMed Link: 31963847

Variant Present in the following documents:

• Main text
• diagnostics-10-00050.pdf

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Molecular Vision

Siemiatkowska, Anna M AM; Arimadyo, Kentar K; Moruz, Luminita M LM; Astuti, Galuh D N GD; de Castro-Miro, Marta M; Zonneveld, Marijke N MN; Strom, Tim M TM; de Wijs, Ilse J IJ; Hoefsloot, Lies H LH; Faradz, Sultana M H SM; Cremers, Frans P M FP; den Hollander, Anneke I AI; Collin, Rob W J RW

Publication Date: 2011

Variant appearance in text: USH2A: 9082G>T

PubMed Link: 22128245

Variant Present in the following documents:

• Main text
• mv-v17-3013.pdf

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Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.

Molecular Vision

Khan, Muhammad Imran MI; Collin, Rob W J RW; Arimadyo, Kentar K; Micheal, Shazia S; Azam, Maleeha M; Qureshi, Nadeem N; Faradz, Sultana M H SM; den Hollander, Anneke I AI; Qamar, Raheel R; Cremers, Frans P M FP

Publication Date: 2010-12-15

Variant appearance in text: USH2A: 9082G>T

PubMed Link: 21179430

Variant Present in the following documents:

• Main text
• mv-v16-2753.pdf

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