Results 281 to 290 of about 157,517 (293)
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Autosomal Dominant Humeroperoneal Myopathy
Archives of Neurology, 1986Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: early and unusual contractures; humeroperoneal muscle wasting; the slow progression of weakness, beginning in childhood; cardiac conduction defects; and X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent ...
James M. Gilchrist, Robert T. Leshner
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Autosomal dominant congenital laryngomalacia
American Journal of Medical Genetics, 1992AbstractA family is presented in which congenital stridor due to laryngomalacia was evident in 9 individuals through 3 generations. This report confirms the autosomal dominant transmission of at least one type of laryngomalacia.
Yakov Sivan +3 more
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Autosomal dominant inheritance of hypercalciuria
European Journal of Pediatrics, 1980We examined 37 first and second degree relatives of 10 children with hypercalciuria. In 2 families only the index patient was affected, while in 8 others one of the parents was hypercalciuric; in the total of 47 persons examined 23 cases of "idiopathic" hypercalciuria could be identified. None of the subjects was hypercalcemic.
Zs. Szelid, Károly Méhes
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Autosomal Dominant Crystalline Dystrophy
Ophthalmology, 1991A black woman was identified with a tapetoretinal degeneration with sparkling intraretinal crystals, retinal pigment epithelial and choroidal atrophy, night blindness, color vision abnormalities, and paracentral scotomas. This constellation of findings is most consistent with the diagnosis of Bietti's crystalline dystrophy.
Joseph R. Ferencz +5 more
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Autosomal dominant lamellar ichthyosis
Clinical Genetics, 1986Five members of two generations of one family were affected with lamellar ichthyosis, suggesting autosomal dominant transmission. The clinical and histopathological characteristics of the cases described here are similar to those reported by Traupe et al.
V. Fernández Redondo +4 more
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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.
D. Ross McLeod, Alexander K. C. Leung
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Autosomal dominant inheritance
1991Abstract Well over 2000 disorders and polymorphic systems showing definite or probable autosomal dominant inheritance have been documented.1 As the name implies, these conditions are determined by genes at autosomal loci and are manifest in the heterozygote.
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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 +2 more
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Autosomal Dominant Spondyloarthropathy
New England Journal of Medicine, 1989P Pere +4 more
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