Results 271 to 280 of about 207,744 (307)
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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 holocalvarial craniosynostosis
Child's Nervous System, 1995Isolated holocalvarial synostosis with normal intelligence is described in two pairs of sibs from one kindred. Diagnosis was delayed until the age of 5 years in the pro-band. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.
G, Pillar +2 more
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Osteomesopyknosis: An autosomal dominant osteosclerosis
American Journal of Medical Genetics, 1981AbstractRadiographs of a 27‐year‐old sterile woman showed increased bone density. The lesions were localized to the spine and pelvis. The condition is inherited as an autosomal dominant trait and has been designated osteomesopyknosis.
Claude G. Stoll +3 more
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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.
M, Shohat +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.
K, Méhes, Z, Szelid
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Autosomal dominant ichthyosis exfoliativa
British Journal of Dermatology, 1991An unusual ichthyosiform dermatosis with circumscribed areas of blistering hyperkeratoses as well as scaly areas was observed in five consecutive generations of a German family. Light and electron microscopical studies revealed oedema of the keratinocytes in the upper epidermis but no defects of tonofilaments and keratohyalin granules.
F, Vakilzadeh, G, Kolde
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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 Spondyloarthropathy
New England Journal of Medicine, 1989A, Gaucher +4 more
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Autosomal Dominant Retinitis Pigmentosa
More 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).Duncan Yi-Te, Wang +3 more
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