Results 221 to 230 of about 1,225,648 (255)

Autosomal dominant transmission of acrodysostosis

Clinical Dysmorphology, 1992
A mother and daughter with acrodysostosis are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of acrodysostosis. The daughter exhibited many features of acrodysostosis by two months of age, demonstrating that acrodysostosis may be diagnosed in infancy.
R D, Steiner, R A, Pagon
openaire   +2 more sources

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
H O, Sedano, R, Kuba, R J, Gorlin
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 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.
K, Méhes, Z, Szelid
openaire   +2 more sources

Autosomal Dominant Retinitis Pigmentosa

2018
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). 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 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 Spondyloarthropathy

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

Autosomal dominant acrodysostosis

Human Genetics, 1979
J M, Cantú, A, Hernández, A, Panduro-Cerda, Z, Nazará-Cazorla   +3 more
openaire   +2 more sources

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review

Biomedicines, 2023
Salvatore Ferlito, Jerome Lechien, Antonino Maniaci   +2 more
exaly  

Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa

Molecular Therapy, 2020
Stephen Tsang, Sara D Ragi
exaly