Results 241 to 250 of about 178,919 (265)

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.
C, Marelli, C, Cazeneuve, A, Brice, G, Stevanin, A, Dürr   +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 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
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 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 Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment

International Journal of Molecular Sciences, 2022
Vladimir Tesar, Jana Reiterová
exaly  

Autosomal dominant tubulointerstitial kidney disease: A review

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2022
Anthony Bleyer
exaly