adenine has been researched along with Achondroplasia in 2 studies
Achondroplasia: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 2 (100.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Dakouane Giudicelli, M | 1 |
Serazin, V | 1 |
Le Sciellour, CR | 1 |
Albert, M | 1 |
Selva, J | 1 |
Giudicelli, Y | 1 |
Sobetzko, D | 1 |
Braga, S | 1 |
Rüdeberg, A | 1 |
Superti-Furga, A | 1 |
2 other studies available for adenine and Achondroplasia
Article | Year |
---|---|
Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies.
Topics: Achondroplasia; Adenine; Adult; Aged; Biopsy; DNA; Gene Frequency; Guanine; Humans; Male; Middle Age | 2008 |
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Topics: Achondroplasia; Adenine; Adult; Amino Acid Substitution; Arginine; Child; Female; Glycine; Guanine; | 2000 |