cysteine has been researched along with Acrocephalosyndactylia in 9 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 5 (55.56) | 18.2507 |
| 2000's | 3 (33.33) | 29.6817 |
| 2010's | 1 (11.11) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ang, BU; Kirschner, RE; Nah, HD; Spivak, RM | 1 |
| Bonaventure, J; El Ghouzzi, V; Heuertz, S; Lajeunie, E; Le Merrer, M; Martinovic, J; Renier, D | 1 |
| Anderson, PJ; Cox, TC; David, DJ; Netherway, DJ; Roscioli, T | 1 |
| Battaglia, PA; Di Rocco, C; Tartaglia, M; Valeri, S; Velardi, F | 1 |
| Anderson, C; Can, B; Say, B; Schaefer, F | 1 |
| Hesseling-Janssen, AL; Hoogeboom, AJ; Mathijssen, IM; Vaandrager, JM; van den Ouweland, AM | 1 |
| Bartlett, SP; Gripp, KW; Katowitz, JA; Markowitz, RI; McDonald-McGinn, DM; Muenke, M; Stolle, CA; Zackai, EH | 1 |
| Cornejo-Roldan, LR; Muenke, M; Roessler, E | 1 |
| Büsse, M; Collmann, H; Halliger-Keller, B; Kress, W; Mueller, CR | 1 |
9 other study(ies) available for cysteine and Acrocephalosyndactylia
| Article | Year |
|---|---|
Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
Topics: Acrocephalosyndactylia; Adenoviridae; Alkaline Phosphatase; Animals; Arginine; Biomarkers; Cell Differentiation; Cell Proliferation; Cells, Cultured; Coculture Techniques; Coloring Agents; Core Binding Factor Alpha 1 Subunit; Craniofacial Dysostosis; Craniosynostoses; Cysteine; Dura Mater; Genetic Vectors; Mice; Osteoblasts; Osteogenesis; Osteopontin; Phenylalanine; Point Mutation; Receptor, Fibroblast Growth Factor, Type 2; Syndrome; Tetrazolium Salts; Thiazoles | 2010 |
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
Topics: Acrocephalosyndactylia; Codon, Terminator; Cohort Studies; Craniosynostoses; Cysteine; DNA Mutational Analysis; Exons; Facies; Genotype; Heterozygote; Homozygote; Humans; Mutation; Mutation, Missense; Phenotype; Prognosis; Protein Isoforms; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptor, Fibroblast Growth Factor, Type 3; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, DNA | 2006 |
Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
Topics: Acrocephalosyndactylia; Adenine; Adolescent; Arginine; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Cysteine; Cytosine; DNA Transposable Elements; Female; Follow-Up Studies; Guanine; Humans; Male; Mutation; Receptor, Fibroblast Growth Factor, Type 2; Sequence Deletion; Serine; Syndrome; Thymine; Treatment Outcome; Tryptophan; Twist-Related Protein 1 | 2006 |
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
Topics: Acrocephalosyndactylia; Amino Acid Sequence; Base Sequence; Child, Preschool; Cysteine; DNA; Exons; Humans; Leukocytes; Male; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Tryptophan | 1997 |
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case.
Topics: Acrocephalosyndactylia; Amino Acid Sequence; Codon; Craniofacial Dysostosis; Cysteine; Exons; Female; Humans; Infant, Newborn; Molecular Sequence Data; Mutation; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Tryptophan | 1998 |
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
Topics: Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Female; Humans; Infant, Newborn; Point Mutation; Polymerase Chain Reaction; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; Serine | 1998 |
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Elbow; Eye Abnormalities; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant, Newborn; Male; Phenotype; Point Mutation; Polymorphism, Single-Stranded Conformational; Radiography; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Serine; Translocation, Genetic; Wheelchairs | 1998 |
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
Topics: Acrocephalosyndactylia; Alternative Splicing; Amino Acid Sequence; Amino Acid Substitution; Codon; Cysteine; Exons; Humans; Molecular Sequence Data; Mutation; Mutation, Missense; Point Mutation; Protein Conformation; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor | 1999 |
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
Topics: Acrocephalosyndactylia; Amino Acid Sequence; Cohort Studies; Craniofacial Dysostosis; Cysteine; DNA Mutational Analysis; Female; Genetic Testing; Humans; Male; Molecular Sequence Data; Mutagenesis; Mutation; Nuclear Proteins; Pedigree; Phenotype; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Syndrome; Transcription Factors; Twist-Related Protein 1 | 2000 |