Results 321 to 330 of about 308,350 (333)
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Autosomal dominant flat umbilicus
American Journal of Medical Genetics Part A, 2004AbstractWe describe a Chinese family among whom five members in three generations had a flat umbilicus with vertical and male to male transmission indicative of autosomal dominant inheritance. Except the proband, who also had Tetralogy of Fallot, other affected members had a flat umbilicus as an isolated anomaly.
Alexander K C, Leung, D Ross, McLeod
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Autosomal Dominant Exudative Vitreoretinopathy
Archives of Ophthalmology, 1983Eight family members had familial exudative vitreoretinopathy. They exhibited a variety of clinical stages of the disease process. Some clinical findings included retinal detachment, fibrovascular masses with dragged disc and macula, neovascular fronds and intraretinal deposits.
E L, Feldman, J L, Norris, G W, Cleasby
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Autosomal dominant osteopetrosis
The Journal of Laryngology & Otology, 1987Osteopetrosis is a rare metabolic disorder, characterized by an abnormal accumulation of bone mass probably caused by diminished bone resorption. Symptoms are directly and indirectly derived from the increased amount of bone. A family study was made, starting with a proband presenting with symptoms of trigeminal neuralgia.
J, Bollerslev, E, Grodum, A, Grøntved
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Autosomal-dominant cerebellar ataxias
2018Spinocerebellar ataxias (SCAs) are a genetically diverse group of dominantly inherited disorders that share clinical features that result from dysfunction and degeneration of the cerebellum and its associated pathways. Although nearly 40 genes are currently recognized to result in SCA, shared mechanisms for disease pathogenesis exist among subsets of ...
Andrew, Mundwiler, Vikram G, Shakkottai
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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
openaire +1 more source