Page last updated: 2024-11-08

serine and Eye Abnormalities

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.

Research Excerpts

ExcerptRelevanceReference
"[1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs."1.30Phenotype 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)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (25.00)18.2507
2000's2 (50.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kozoriz, MG1
Lai, S1
Vega, JL1
Sáez, JC1
Sin, WC1
Bechberger, JF1
Naus, CC1
Wang, J1
Liu, J1
Zhang, Q1
Hansen, L1
Eiberg, H1
Rosenberg, T1
Gripp, KW1
Stolle, CA1
McDonald-McGinn, DM1
Markowitz, RI1
Bartlett, SP1
Katowitz, JA1
Muenke, M1
Zackai, EH1

Other Studies

4 other studies available for serine and Eye Abnormalities

ArticleYear
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.
    Neuropharmacology, 2013, Volume: 75

    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.
    Molecular vision, 2007, Jan-26, Volume: 13

    Topics: Asian People; Blepharophimosis; Blepharoptosis; Cysteine; Cytosine; Eye Abnormalities; Eyelids; Fork

2007
Novel MAF mutation in a family with congenital cataract-microcornea syndrome.
    Molecular vision, 2007, Oct-18, Volume: 13

    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.
    American journal of medical genetics, 1998, Jul-24, Volume: 78, Issue:4

    Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Elbow; Eye Abnor

1998