serine has been researched along with Acrocephaly in 6 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.
Acrocephaly: Premature closing of the lambdoid and coronal sutures.
Excerpt | Relevance | Reference |
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"Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump." | 1.35 | Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. ( Cosentino, V; Costa-Lima, MA; Fonseca, R; Orioli, IM, 2008) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (16.67) | 18.2507 |
2000's | 5 (83.33) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Anderson, PJ | 1 |
Netherway, DJ | 1 |
Cox, TC | 1 |
Roscioli, T | 1 |
David, DJ | 1 |
Fonseca, R | 1 |
Costa-Lima, MA | 1 |
Cosentino, V | 1 |
Orioli, IM | 1 |
Oldridge, M | 1 |
Lunt, PW | 1 |
Zackai, EH | 1 |
McDonald-McGinn, DM | 1 |
Muenke, M | 1 |
Moloney, DM | 1 |
Twigg, SR | 1 |
Heath, JK | 1 |
Howard, TD | 1 |
Hoganson, G | 1 |
Gagnon, DM | 1 |
Jabs, EW | 1 |
Wilkie, AO | 2 |
Johnson, D | 1 |
Wall, SA | 1 |
Mann, S | 1 |
Yang, CF | 1 |
Wu, JY | 1 |
Tsai, FJ | 1 |
Lee, CC | 1 |
Lin, WD | 1 |
Sakai, N | 1 |
Tokunaga, K | 1 |
Yamazaki, Y | 1 |
Shida, H | 1 |
Sakata, Y | 1 |
Susami, T | 1 |
Nakakita, N | 1 |
Takato, T | 1 |
Uchinuma, E | 1 |
6 other studies available for serine and Acrocephaly
Article | Year |
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Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
Topics: Acrocephalosyndactylia; Adenine; Adolescent; Arginine; Child, Preschool; Craniofacial Dysostosis; Cr | 2006 |
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Base Sequence; Craniosynostoses; Cysteine; Humans; | 2008 |
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Topics: Adult; Child; Craniosynostoses; Dipeptides; Female; Foot Deformities, Congenital; Genotype; Hand Def | 1997 |
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
Topics: Alanine; Amino Acid Sequence; Base Sequence; Craniosynostoses; DNA Primers; Environmental Exposure; | 2000 |
Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese.
Topics: Amino Acid Substitution; Asian People; Craniosynostoses; Glycine; Helix-Loop-Helix Motifs; Humans; M | 2000 |
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
Topics: Acrocephalosyndactylia; Arginine; Cleft Palate; Codon; Craniofacial Dysostosis; Craniosynostoses; Ex | 2001 |