dapi has been researched along with Noonan Syndrome in 1 studies
DAPI: RN given refers to parent cpd.
Noonan Syndrome: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Cordeddu, V | 1 |
| Di Schiavi, E | 1 |
| Pennacchio, LA | 1 |
| Ma'ayan, A | 1 |
| Sarkozy, A | 1 |
| Fodale, V | 1 |
| Cecchetti, S | 1 |
| Cardinale, A | 1 |
| Martin, J | 1 |
| Schackwitz, W | 1 |
| Lipzen, A | 1 |
| Zampino, G | 1 |
| Mazzanti, L | 1 |
| Digilio, MC | 1 |
| Martinelli, S | 1 |
| Flex, E | 1 |
| Lepri, F | 1 |
| Bartholdi, D | 1 |
| Kutsche, K | 1 |
| Ferrero, GB | 1 |
| Anichini, C | 1 |
| Selicorni, A | 1 |
| Rossi, C | 1 |
| Tenconi, R | 1 |
| Zenker, M | 1 |
| Merlo, D | 1 |
| Dallapiccola, B | 1 |
| Iyengar, R | 1 |
| Bazzicalupo, P | 1 |
| Gelb, BD | 1 |
| Tartaglia, M | 1 |
1 other study available for dapi and Noonan Syndrome
| Article | Year |
|---|---|
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Topics: Actins; Cell Nucleus; Cytoskeleton; Fluorescent Antibody Technique, Indirect; Fluorescent Dyes; Germ | 2009 |