Results 271 to 280 of about 293,955 (289)

Autosomal Dominant Cramping Disease

Archives of Neurology, 1990
A family was studied in which four generations (16 of 41 members) suffered from painful recurrent muscle cramping. A clear pattern of autosomal dominant inheritance was noted. The cramping first developed during adolescence or early adulthood. Electromyographic analysis indicated a neurogenic origin.
K, Ricker, R T, Moxley
openaire   +2 more sources

Autosomal-dominant primary immunodeficiencies

Current Opinion in Hematology, 2005
The vast majority of known primary immunodeficiencies (PIDs) are autosomal or X-linked recessive Mendelian traits. Only four classical primary immunodeficiencies are thought to be autosomal-dominant, three of which still lack a well-defined genetic etiology: isolated congenital asplenia, isolated chronic mucocutaneous candidiasis, and hyper IgE ...
Lawrence, Tatiana, Puel, Anne, Reichenbach, Janine, Ku, Cheng-Lung, Chapgier, Ariane, Renner, Ellen, Minard-Colin, Véronique, Ouachée, Marie, Casanova, Jean-Laurent   +8 more
openaire   +3 more sources

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
openaire   +2 more sources

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.
M, Shohat, Y, Sivan, E, Taub, S, Davidson   +3 more
openaire   +2 more sources

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.
B W, Richards, D E, Brodstein, J J, Nussbaum, J R, Ferencz, K, Maeda, L, Weiss   +5 more
openaire   +2 more sources

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.
J, Toribio, V, Fernández Redondo, C, Peteiro, A, Zulaica, J M, Fabeiro   +4 more
openaire   +2 more sources

Autosomal dominant flat umbilicus

American Journal of Medical Genetics Part A, 2004
AbstractWe 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
openaire   +2 more sources

Autosomal Dominant Exudative Vitreoretinopathy

Archives of Ophthalmology, 1983
Eight 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
openaire   +2 more sources

Autosomal dominant osteopetrosis

The Journal of Laryngology & Otology, 1987
Osteopetrosis 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
openaire   +2 more sources

Autosomal-dominant cerebellar ataxias

2018
Spinocerebellar 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
openaire   +2 more sources