cholesta-5,8-dien-3 beta-ol has been researched along with Chondrodysplasia Punctata in 5 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (60.00) | 29.6817 |
| 2010's | 2 (40.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Cañueto, J; Girós, M; González-Sarmiento, R | 1 |
| Artigas, M; Cañueto, J; Ciria, S; Fernández-Burriel, M; García, JL; García-Dorado, J; García-Patos, V; Garcia-Silva, MT; Girós, M; González-Sarmiento, R; Hernández-Martín, A; Martín-Hernández, E; Martínez, F; Pi-Castán, G; Rosell, J; Sánchez-Tapia, EM; Tejedor, M; Torrelo, A; Unamuno, P; Valero, J; Vendrell, T; Virós, A | 1 |
| Aughton, DJ; Kelley, RI; Metzenberg, A; Pauli, RM; Pureza, V | 1 |
| Bröcker, EB; Grzeschik, KH; Haas, D; Hamm, H; Kolb-Mäurer, A | 1 |
| Fukai, K; Ishii, M; Kasama, T; Saito, M; Tsuruhara, A; Umekoji, A; Yokoi, T | 1 |
2 review(s) available for cholesta-5,8-dien-3 beta-ol and Chondrodysplasia Punctata
| Article | Year |
|---|---|
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.
Topics: Cholestadienols; Cholesterol; Chondrodysplasia Punctata; Chromosomes, Human, X; Female; Genes, Dominant; Hedgehog Proteins; Humans; Infant; Infant, Newborn; Male; Mutation; Signal Transduction; Steroid Isomerases | 2014 |
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Topics: Adult; Cholestadienols; Cholesterol; Chondrodysplasia Punctata; DNA Mutational Analysis; Female; Genetic Diseases, X-Linked; Genotype; Humans; Infant; Mutation; Phenotype; Spain; Steroid Isomerases; X Chromosome Inactivation | 2012 |
3 other study(ies) available for cholesta-5,8-dien-3 beta-ol and Chondrodysplasia Punctata
| Article | Year |
|---|---|
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
Topics: Carrier Proteins; Child, Preschool; Cholestadienols; Cholesterol; Chondrodysplasia Punctata; Chromosomes, Human, X; DNA; DNA Mutational Analysis; Genes, Dominant; Genetic Linkage; Humans; Male; Mosaicism; Mutation, Missense; Steroid Isomerases; Syndrome | 2003 |
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.
Topics: Alopecia; Cataract; Child, Preschool; Cholestadienols; Cholesterol; Chondrodysplasia Punctata; Craniofacial Abnormalities; DNA Mutational Analysis; Eye; Female; Genes, Dominant; Humans; Hypopigmentation; Mutation, Missense; Skin; Steroid Isomerases | 2008 |
High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.
Topics: Amino Acid Substitution; Cholestadienols; Chondrodysplasia Punctata; Female; Humans; Infant, Newborn; Models, Molecular; Mutation, Missense; Steroid Isomerases | 2008 |