serine has been researched along with Angiomatosis Retinae in 3 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "All patients were diagnosed as VHL syndrome type 2B." | 1.40 | Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. ( Aydin, Y; Berker, D; Ciliz, D; Guler, S; Mete, T; Onen, M; Ozgen, G; Tuna, M; Yalcin, Y; Yilmaz, E, 2014) |
| "The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature." | 1.32 | Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. ( Assadi, F; Brackbill, EL, 2003) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (66.67) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Mete, T | 1 |
| Berker, D | 1 |
| Yilmaz, E | 1 |
| Ozgen, G | 1 |
| Yalcin, Y | 1 |
| Tuna, M | 1 |
| Ciliz, D | 1 |
| Onen, M | 1 |
| Aydin, Y | 1 |
| Guler, S | 1 |
| Assadi, F | 1 |
| Brackbill, EL | 1 |
| Patocs, A | 1 |
| Gergics, P | 1 |
| Balogh, K | 1 |
| Toth, M | 1 |
| Fazakas, F | 1 |
| Liko, I | 1 |
| Racz, K | 1 |
3 other studies available for serine and Angiomatosis Retinae
| Article | Year |
|---|---|
Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family.
Topics: Adolescent; Adult; Alanine; Amino Acid Substitution; Family; Female; Humans; Male; Middle Aged; Muta | 2014 |
Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
Topics: Adrenal Gland Neoplasms; Amino Acid Substitution; Child; Cryptorchidism; Developmental Disabilities; | 2003 |
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.
Topics: Amino Acid Sequence; Female; Humans; Male; Mutation; Pedigree; Proline; Protein Structure, Secondary | 2008 |