asparagine has been researched along with Syndrome in 10 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 3 (30.00) | 18.2507 |
| 2000's | 5 (50.00) | 29.6817 |
| 2010's | 2 (20.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bau, AE; de Zwart-Storm, EA; Foelster-Holst, R; Frank, J; Graziadio, C; Kamps, MA; Martin, PE; Paskulin, GA; Rosa, RF; van Geel, M; van Steensel, MA; Zen, PR | 1 |
| Buxbaum, JD; Darvish, H; Frucht, S; Hubert, B; Karkheiran, S; Krebs, CE; Makarov, V; Nilipour, Y; Paisán-Ruiz, C; Shahidi, GA | 1 |
| Grunewald, S; Jaeken, J; Matthijs, G | 1 |
| Gautschi, I; Hannila-Handelberg, T; Hiltunen, TP; Kantola, I; Kontula, K; Petäjäniemi, N; Schild, L; Tikkanen, I; Virtamo, J | 1 |
| Anckarsäter, H; Betancur, C; Buxbaum, JD; Cai, G; Chaste, P; Gillberg, C; Goldsmith, J; Hollander, E; Leboyer, M; Nygren, G; Rastam, M; Reichert, J; Silverman, JM; Smith, CJ; Verloes, A | 1 |
| Birk, OS; Elbedour, K; Hershkowitz, R; Landau, D; Manor, E; Narkis, G; Ofir, R; Volokita, M | 1 |
| Atamna, N; Göller, T; Jacob, R; Lülsdorf, P; Schmahl, K; Schönijahn, T | 1 |
| Bartolone, L; Benvenga, S; Filetti, S; Pontecorvi, A; Regalbuto, C; Trimarchi, F | 1 |
| Fukushima, K; Ideo, H; Ohkura, T; Ohno, K; Takeshita, K; Yamashita, K; Yuasa, I | 1 |
| Aragoncillo, C; Blanco, C; Carrillo, T; Collada, C; Diaz-Perales, A; Salcedo, G; Sanchez-Monge, R | 1 |
1 review(s) available for asparagine and Syndrome
| Article | Year |
|---|---|
Congenital disorders of glycosylation: a review.
Topics: Animals; Asparagine; Carbohydrate Metabolism, Inborn Errors; Endoplasmic Reticulum; Glycoconjugates; Glycoproteins; Glycosylation; Glycosyltransferases; Golgi Apparatus; Humans; Isoelectric Focusing; Models, Biological; Oligosaccharides; Protein Processing, Post-Translational; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Syndrome | 2002 |
9 other study(ies) available for asparagine and Syndrome
| Article | Year |
|---|---|
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
Topics: Adult; Asparagine; Aspartic Acid; Cell Membrane; Child; Connexin 26; Connexins; Cytoplasm; Endoplasmic Reticulum; Female; Fluoresceins; Gap Junctions; Hearing Loss; HeLa Cells; Humans; Hypertrichosis; Keratoderma, Palmoplantar; Keratosis; Lysine; Male; Mutation, Missense; Nails, Malformed; Protein Transport; Skin; Skin Diseases; Syndrome; Transfection; Tyrosine | 2011 |
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
Topics: Adolescent; Adult; Asparagine; Aspartic Acid; Cerebral Cortex; Chromosomes, Human, Pair 21; Collagen Type VI; Consanguinity; Electroencephalography; Female; Homozygote; Humans; Iran; Male; Middle Aged; Mutation; Myoclonic Epilepsies, Progressive; Pedigree; Syndrome | 2013 |
Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.
Topics: Adult; Amino Acid Sequence; Animals; Asparagine; Base Sequence; Epithelial Sodium Channels; Female; Genes, Dominant; Humans; Hypertension; Hypokalemia; Male; Molecular Sequence Data; Oocytes; Pedigree; Point Mutation; Serine; Sodium Channels; Syndrome; Threonine; Xenopus | 2002 |
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Autistic Disorder; Child; Child, Preschool; Craniofacial Abnormalities; DNA Mutational Analysis; Exons; Female; Genetic Testing; Humans; Introns; Male; Molecular Sequence Data; Mutation; PTEN Phosphohydrolase; Syndrome | 2007 |
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
Topics: Alleles; Amino Acid Sequence; Amino Acid Substitution; Arthrogryposis; Asparagine; Aspartic Acid; Chromosomes, Human, Pair 19; Female; Homozygote; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phosphatidylinositol 4,5-Diphosphate; Phosphotransferases (Alcohol Group Acceptor); Syndrome | 2007 |
[Uncommon case of paraganglioma syndrome in combination with malignant paraganglioma].
Topics: Aged; Amino Acid Substitution; Asparagine; Carotid Body Tumor; Chromosomes, Human, Pair 11; Diagnosis, Differential; Ear Neoplasms; Ear, Inner; Ear, Middle; Genetic Carrier Screening; Glomus Jugulare Tumor; Glycine; Hearing Loss, Unilateral; Humans; Lymphatic Metastasis; Male; Neoplasm Invasiveness; Neoplasm Staging; Neoplasms, Multiple Primary; Paraganglioma; Petrous Bone; Succinate Dehydrogenase; Syndrome; Thyroid Neoplasms; Tomography, X-Ray Computed | 2008 |
Three new mutations of thyroid hormone receptor-beta associated with resistance to thyroid hormone.
Topics: Adolescent; Adult; Amino Acid Sequence; Asparagine; Aspartic Acid; Base Sequence; Drug Resistance; Female; Glutamates; Glutamic Acid; Glutamine; Humans; Lysine; Male; Molecular Sequence Data; Point Mutation; Receptors, Thyroid Hormone; Sicily; Syndrome; Thyroid Hormones | 1994 |
Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency.
Topics: Asparagine; Carbohydrate Metabolism, Inborn Errors; Carbohydrate Sequence; Carbohydrates; Chromatography, Affinity; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Humans; Isoelectric Point; Lectins; Metabolism, Inborn Errors; Molecular Sequence Data; Oligosaccharides; Syndrome; Transferrin | 1993 |
Cross-reactions in the latex-fruit syndrome: A relevant role of chitinases but not of complex asparagine-linked glycans.
Topics: Animals; Asparagine; Chitinases; Cross Reactions; Food Hypersensitivity; Fruit; Humans; Latex Hypersensitivity; Plant Extracts; Polysaccharides; Rabbits; Syndrome | 1999 |