Results 381 to 390 of about 1,639,589 (408)

Autosomal dominant cerebellar ataxias

Revue Neurologique, 2011
Cerebellar ataxias with autosomal dominant transmission (ADCA) are far rarer than sporadic cases of cerebellar ataxia. The identification of genes involved in dominant forms has confirmed the genetic heterogeneity of these conditions and of the underlying mechanisms and pathways.
Giovanni Stevanin, Cécile Cazeneuve, Alexis Brice, Alexandra Durr, Cecilia Marelli   +4 more
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Autosomal dominant occipital cephalocele

Neurology, 2004
The authors report the clinical and radiographic characteristics of a non-consanguineous Vietnamese kindred with an autosomal dominant form of occipital cephalocele. Affected family members all presented with occipital subscalp bulges at birth. Except for the proband, all individuals were developmentally normal with otherwise normal neurologic ...
Alexander G. Bassuk, David G. McLone, Robin M. Bowman, John A. Kessler   +3 more
openaire   +2 more sources

Brachyolmia: An autosomal dominant form

American Journal of Medical Genetics, 1994
AbstractWe have investigated a mother and son of South African Xhosa stock who presented with short‐trunk dwarfism and kyphoscoliosis. Radiographs show the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. Our patients provide further evidence for the existence of an autosomal dominant form and supports the theory of ...
Peter Beighton, Jessica Gardner
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Autosomal Dominant Drusen

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, Eva Lenassi, Andrew R. Webster, Andrew R. Webster   +3 more
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Autosomal dominant cemental dysplasia

Oral Surgery, Oral Medicine, Oral Pathology, 1982
Abstract Autosomal dominant cemental dysplasia is the term chosen to describe what is considered to be a new entity affecting cementum and neighboring bone. The condition was present in ten members of the same family, segregating as an autosomal dominant trait. A review of the literature failed to demonstrate previously reported cases. The name was
Robert J. Gorlin, Ramesh K. Kuba, Heddie O. Sedano   +2 more
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Autosomal Dominant Exudative Vitreoretinopathy

Archives of Ophthalmology, 1984
To the Editor. —In their article in the OctoberArchives, Feldman et al 1 confirmed the extreme variability of clinical signs of autosomal dominant exudative vitreoretinopathy. Their findings agree with observations of other recent studies of (autosomal) dominant exudative vitreoretinopathy. 2,3 Feldman et al 1 reported the occurrence of intraretinal
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Autosomal Dominant Humeroperoneal Myopathy

Archives of Neurology, 1986
Emery-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 lamellar ichthyosis

Clinical Genetics, 1986
Five 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, Jaime Toribio, Carmen Peteiro, J. M. Fabeiro, A. Zulaica   +4 more
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Autosomal dominant congenital laryngomalacia

American Journal of Medical Genetics, 1992
AbstractA 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, Mordechai Shohat, Shmuel Davidson, Ellen Taub   +3 more
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Autosomal Dominant Crystalline Dystrophy

Ophthalmology, 1991
A 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, David E. Brodstein, Bradley W. Richards, Lester Weiss, Julian J. Nussbaum, Koichi Maeda   +5 more
openaire   +3 more sources