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Autosomal Dominant Retinitis Pigmentosa
2018More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal dominant (AD), autosomal recessive (AR), X-linked, and simplex forms (inheritance not known). The AD form accounts for approximately 15-25% of cases; AR, 5-20%; X-linked, 5-15%; and simplex, 40-50%.
Stephen H, Tsang, Tarun, Sharma
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Autosomal Dominant Spondyloarthropathy
New England Journal of Medicine, 1989A, Gaucher +4 more
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2014
Autosomal dominant drusen is a dominantly inherited maculopathy first described by Doyne in 1899 [1]. The condition is characterised by macular drusen and is associated with slowly progressive loss of central visual acuity. A single heterozygous missense mutation (p.Arg345Trp) in the EFEMP1 (EGF-containing fibulin-like extracellular matrix protein 1 ...
Eva Lenassi, Andrew R. Webster
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Autosomal dominant drusen is a dominantly inherited maculopathy first described by Doyne in 1899 [1]. The condition is characterised by macular drusen and is associated with slowly progressive loss of central visual acuity. A single heterozygous missense mutation (p.Arg345Trp) in the EFEMP1 (EGF-containing fibulin-like extracellular matrix protein 1 ...
Eva Lenassi, Andrew R. Webster
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Autosomal dominant microcephaly
The Journal of Pediatrics, 1982L.N. Rossi, M. P. Battilana
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