serine has been researched along with Eye Abnormalities in 4 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.
Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.
Excerpt | Relevance | Reference |
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"[1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs." | 1.30 | Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. ( Bartlett, SP; Gripp, KW; Katowitz, JA; Markowitz, RI; McDonald-McGinn, DM; Muenke, M; Stolle, CA; Zackai, EH, 1998) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (25.00) | 18.2507 |
2000's | 2 (50.00) | 29.6817 |
2010's | 1 (25.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Kozoriz, MG | 1 |
Lai, S | 1 |
Vega, JL | 1 |
Sáez, JC | 1 |
Sin, WC | 1 |
Bechberger, JF | 1 |
Naus, CC | 1 |
Wang, J | 1 |
Liu, J | 1 |
Zhang, Q | 1 |
Hansen, L | 1 |
Eiberg, H | 1 |
Rosenberg, T | 1 |
Gripp, KW | 1 |
Stolle, CA | 1 |
McDonald-McGinn, DM | 1 |
Markowitz, RI | 1 |
Bartlett, SP | 1 |
Katowitz, JA | 1 |
Muenke, M | 1 |
Zackai, EH | 1 |
4 other studies available for serine and Eye Abnormalities
Article | Year |
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Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.
Topics: Animals; Astrocytes; Brain Infarction; Brain Ischemia; Cell Death; Cells, Cultured; Connexin 43; Cra | 2013 |
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Topics: Asian People; Blepharophimosis; Blepharoptosis; Cysteine; Cytosine; Eye Abnormalities; Eyelids; Fork | 2007 |
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
Topics: Amino Acid Substitution; Arginine; Cataract; Cornea; DNA; Eye Abnormalities; Female; Humans; Infant, | 2007 |
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Elbow; Eye Abnor | 1998 |