Results 131 to 140 of about 971 (147)

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity [PDF]

American Journal of Human Genetics, 2022
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population frequencies and penetrances are unknown.
Stéphanie S Cornelis, Susanne Roosing, Anneke T Vulto-van Silfhout   +2 more
exaly   +2 more sources

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation [PDF]

Acta Ophthalmologica, 2021
Purpose To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early-onset Stargardt disease (STGD1).
Peter M van Hasselt, Maria M van Genderen, Willemijn F E Kuper   +2 more
exaly   +3 more sources

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus [PDF]

British Journal of Ophthalmology, 2007
Contains fulltext : 53457.pdf (Publisher’s version ) (Open Access)AIM: To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1 ...
Thomas Theelen, Carel B Hoyng, Camiel Boon   +2 more
exaly   +3 more sources

Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und Retinitis pigmentosa (STGD1/RP19) [PDF]

Klinische Monatsblatter Fur Augenheilkunde, 2002
Hintergrund: Darstellung von Mutationen im ABCA4-Gen in einer Familie mit klinischem Phänotyp einer Stargardtschen Erkrankung und einer Retinitis pigmentosa.
Andrea Rivera
exaly   +2 more sources

An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Human Mutation, 2015
Autosomal-recessive Stargardt disease (STGD1) is hallmarked by a large proportion of patients with a single heterozygous causative variant in the disease gene ABCA4. Braun et al.
Elfride De Baere, Susanne Kohl, Miriam Bauwens   +2 more
exaly   +2 more sources

STGD1

, 2018
exaly   +2 more sources

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Split AAV8 Mediated ABCA4 Expression for Gene Therapy of Mouse Stargardt Disease (STGD1)

Human Gene Therapy, 2023
Yang Yang, Jiamei Fu, Xiu Jin
exaly  

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

European Journal of Human Genetics, 2020
Justin A Pater, Darren D O'Rielly, Jane S Green   +2 more
exaly  

Understanding the genetic pathology of Stargardt disease: a review of current findings and challenges

Expert Opinion on Orphan Drugs, 2021
Thomas A Ciulla
exaly  

Quantification of Peripapillary Sparing and Macular Involvement in Stargardt Disease (STGD1)

Investigative Ophthalmology and Visual Science, 2011
Stephen Tsang, Theodore Smith, Rando Allikmets   +2 more
exaly