cysteine has been researched along with Acrocephaly in 8 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (12.50) | 18.2507 |
| 2000's | 4 (50.00) | 29.6817 |
| 2010's | 3 (37.50) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bajpai, M; Barik, M; Das, RR; Dwivedi, S; Malhotra, A; Panda, SS; Sahoo, MK | 1 |
| Hatch, NE; Liu, J; Nam, HK; Wang, E | 1 |
| Ang, BU; Kirschner, RE; Nah, HD; Spivak, RM | 1 |
| Cohen, MM | 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 |
| Cosentino, V; Costa-Lima, MA; Fonseca, R; Orioli, IM | 1 |
| Kitoh, H; Krakow, D; Lachman, RS; Rimoin, DL; Tavormina, PL; Thompson, LM; Wasmuth, JJ; Wilcox, WR | 1 |
1 review(s) available for cysteine and Acrocephaly
| Article | Year |
|---|---|
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Topics: Acanthosis Nigricans; Amino Acid Substitution; Craniosynostoses; Cysteine; Humans; Phenotype; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Tryptophan | 2002 |
1 trial(s) available for cysteine and Acrocephaly
| Article | Year |
|---|---|
Role of 99mTc-ECD SPECT in the management of children with craniosynostosis.
Topics: Child, Preschool; Craniosynostoses; Cysteine; Female; Humans; Infant; Male; Organotechnetium Compounds; Radiography; Radiopharmaceuticals; Retrospective Studies; Tomography, Emission-Computed, Single-Photon | 2014 |
6 other study(ies) available for cysteine and Acrocephaly
| Article | Year |
|---|---|
The effects of tissue-non-specific alkaline phosphatase gene therapy on craniosynostosis and craniofacial morphology in the FGFR2C342Y/+ mouse model of Crouzon craniosynostosis.
Topics: Alkaline Phosphatase; Animals; Calcification, Physiologic; Calcium; Cephalometry; Cranial Sutures; Craniosynostoses; Cysteine; Disease Models, Animal; Female; Genetic Therapy; Genetic Vectors; Lentivirus; Male; Mice; Mice, Inbred BALB C; Occipital Bone; Parietal Bone; Phosphorus; Receptor, Fibroblast Growth Factor, Type 2; Signal Transduction; Skull; Tyrosine; X-Ray Microtomography | 2015 |
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 |
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Base Sequence; Craniosynostoses; Cysteine; Humans; Infant; Male; Molecular Sequence Data; Point Mutation; Receptor, Fibroblast Growth Factor, Type 2; Serine; Skin Abnormalities; Skull; Syndrome | 2008 |
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
Topics: Chondrocytes; Craniosynostoses; Cysteine; Femur; Fetus; Genotype; Gestational Age; Growth Plate; Humans; Infant, Newborn; Mutation; Phenotype; Point Mutation; Polymerase Chain Reaction; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Registries; Skull; Spine; Thanatophoric Dysplasia | 1998 |