Results 391 to 400 of about 1,639,589 (408)

Autosomal dominant inheritance of hypercalciuria

European Journal of Pediatrics, 1980
We 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
openaire   +3 more sources

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

Nature Network Boston, 2020
J. Grzymski, J. Grzymski, G. Elhanan, J. A. M. Rosado, E. Smith, K. Schlauch, R. Read, C. Rowan, N. Slotnick, S. Dabe, W. Metcalf, Bruce Lipp, H. Reed, L. Sharma, E. Levin, J. Kao, Misha Rashkin, J. Bowes, Keith Dunaway, A. Slonim, N. Washington, M. Ferber, A. Bolze, James T. Lu   +23 more
semanticscholar   +1 more source

Autosomal Dominant Inheritance of Retinoschisis

American Journal of Ophthalmology, 1982
Hereditary retinoschisis affected eight members of three generations of a family. The mode of transmission and the clinical features were not compatible with findings noted in either X-chromosome-linked or autosomal recessive forms of retinoschisis.
S. Kaffe, Yuval Yassur, I Nissenkorn, R.M. Goodman, I. Ben-Sira   +4 more
openaire   +3 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.
John L. Norris, Gilbert W. Cleasby, Edward L. Feldman   +2 more
openaire   +3 more sources

The Autosomal Dominant Mode of Inheritance [PDF]

, 1969
The Mendelian Laws of heredity apply to human beings as to all other living creatures. The genes are present on every single chromosome of the 46 that each human being possesses in every single cell of his body. Two of these chromosomes are sex-chromosomes (sex-determining) (see Chap. VII, Fig. 19) and the remaining 44 are known as “autosomes”.
Friedrich Vogel, Walter Fuhrmann
openaire   +1 more source

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

Autosomal dominant inheritance

1991
Abstract 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.
openaire   +1 more source

Autosomal Dominant Spondyloarthropathy

New England Journal of Medicine, 1989
P Pere, Moreau P, V Dang-Vu, Georges Weryha, A Gaucher   +4 more
openaire   +2 more sources

Autosomal dominant tubulointerstitial kidney disease

Nature Reviews Disease Primers, 2019
O. Devuyst, E. Olinger, S. Weber, K. Eckardt, S. Kmoch, L. Rampoldi, A. Bleyer   +6 more
semanticscholar   +1 more source

Autosomal dominant acrodysostosis

Human Genetics, 1979
J. M. Cantú, Panduro-Cerda A, Alejandro Hernández, Nazará-Cazorla Z   +3 more
openaire   +3 more sources