phenylalanine has been researched along with Chromosome Deletion in 16 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (37.50) | 18.7374 |
| 1990's | 7 (43.75) | 18.2507 |
| 2000's | 1 (6.25) | 29.6817 |
| 2010's | 2 (12.50) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Girodon, F; Gisslinger, H; Hao-Shen, H; Hermouet, S; Jäger, R; Kralovics, R; Looser, R; Schaub, FX; Skoda, RC; Tichelli, A | 1 |
| Caceres, G; Dewald, DW; List, AF; Rocha, K; Sokol, L; Stockero, KJ | 1 |
| Aguilar, JL; Baumann, T; Calvo, X; Cervantes, F; Colomer, D; Costa, D; Díaz-Beyá, M; Esteve, J; Maffioli, M; Martínez-Trillos, A; Nomdedeu, B; Nomdedeu, M; Rozman, M | 1 |
| Gros, P; Raymond, M; Thomas, DY; Whiteway, M | 1 |
| Shaefer, F; Whetsell, L | 1 |
| Coucke, P; Dumon, J; Hendrickx, J; Stuer, K; van der Auwera, BJ; Van Elsen, A; van Schil, L; Vits, L; Wauters, JG; Willems, PJ | 1 |
| Graham, A; Heptinstall, LE; Markham, AF; Newton, CR; Schwarz, M; Smith, JC; Summers, C; Super, M | 1 |
| Chan, W; Johnson, KF; Kornfeld, S | 1 |
| Chong, GL; Farber, R; Highsmith, WE; Knowles, MR; Orr, HT; Perry, TR; Schald, D; Silverman, LM; Wagner, K; Warwick, WJ | 1 |
| Chong, GL; Thibodeau, SN | 1 |
| Chaudry, GJ; Clowes, RC; Draper, RK; Wilson, RB | 1 |
| Arous, N; Bardakdjian, J; Blouquit, Y; Galacteros, F; Lena-Russo, D; Orsini, A; Perrimond, H; Rosa, J | 1 |
| Bamforth, FJ; Graham, A; Kalsheker, NA; Markham, AF; Newton, CR; Powell, SJ | 1 |
| Butler, MG | 1 |
| Hashiba, K; Kagimoto, M; Simpson, ER; Suzuki, S; Waterman, MR; Yanase, T | 1 |
16 other study(ies) available for phenylalanine and Chromosome Deletion
| Article | Year |
|---|---|
Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Chromosome Deletion; Chromosomes, Human, Pair 20; Clone Cells; Comparative Genomic Hybridization; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Humans; Janus Kinase 2; Male; Middle Aged; Mutation; Myeloproliferative Disorders; Phenylalanine; Valine | 2009 |
JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in genetically discordant clones.
Topics: Amino Acid Substitution; Chromosome Deletion; Chromosomes, Human, Pair 5; Clone Cells; Erythroid Precursor Cells; Female; Humans; Janus Kinase 2; Middle Aged; Mutation, Missense; Myelodysplastic Syndromes; Phenylalanine; Valine | 2010 |
Efficacy of lenalidomide in a patient with myelodysplastic syndrome with isolated del(5q) and JAK2V617F mutation.
Topics: Amino Acid Substitution; Anemia, Macrocytic; Antineoplastic Agents; Chromosome Deletion; Chromosomes, Human, Pair 5; Female; Humans; Janus Kinase 2; Lenalidomide; Middle Aged; Mutation, Missense; Myelodysplastic Syndromes; Phenylalanine; Thalidomide; Treatment Outcome; Valine | 2011 |
Functional complementation of yeast ste6 by a mammalian multidrug resistance mdr gene.
Topics: Amino Acid Sequence; Animals; ATP Binding Cassette Transporter, Subfamily B, Member 1; Chromosome Deletion; Crosses, Genetic; Drug Resistance; Genes, Fungal; Genetic Complementation Test; Mating Factor; Membrane Glycoproteins; Mice; Mutation; Peptides; Phenylalanine; Pheromones; Plasmids; Saccharomyces cerevisiae; Serine; Transformation, Genetic | 1992 |
Method for rapid, single reaction, direct screening of the delta F508 cystic fibrosis microdeletion.
Topics: Base Sequence; Chromosome Deletion; Cystic Fibrosis; DNA; Electrophoresis, Polyacrylamide Gel; Molecular Sequence Data; Phenylalanine; Polymerase Chain Reaction | 1992 |
Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.
Topics: Belgium; Chromosome Deletion; Cystic Fibrosis; Gene Frequency; Haplotypes; Humans; Oligonucleotide Probes; Phenylalanine; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length | 1991 |
Detection of delta F508 deletion by amplification refractory mutation system.
Topics: Chromosome Deletion; Cystic Fibrosis; DNA; DNA Mutational Analysis; Humans; Phenylalanine; Polymerase Chain Reaction | 1990 |
Cation-dependent mannose 6-phosphate receptor contains two internalization signals in its cytoplasmic domain.
Topics: Amino Acid Sequence; Animals; Cations; Cell Membrane; Chromosome Deletion; Cytoplasm; Endocytosis; Kinetics; L Cells; Mannosephosphates; Mice; Molecular Sequence Data; Phenylalanine; Plasmids; Receptor, IGF Type 2; Receptors, Cell Surface; Transfection; Tyrosine | 1990 |
Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study.
Topics: Base Sequence; Chromosome Deletion; Cystic Fibrosis; Genetic Carrier Screening; Genotype; Haplotypes; Humans; Molecular Sequence Data; Mutation; Nucleic Acid Probes; Phenotype; Phenylalanine; Polymerase Chain Reaction; Risk | 1990 |
A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation.
Topics: Alleles; Chromosome Deletion; Cystic Fibrosis; Electrophoresis, Polyacrylamide Gel; Genetic Carrier Screening; Humans; Mass Screening; Mutation; Phenylalanine; Polymerase Chain Reaction | 1990 |
A dipeptide insertion in domain I of exotoxin A that impairs receptor binding.
Topics: ADP Ribose Transferases; Bacterial Toxins; Carrier Proteins; Chromosome Deletion; Deoxyribonucleases, Type II Site-Specific; Dipeptides; Exotoxins; Genes, Bacterial; Glutamates; Glutamic Acid; Mutation; Phenylalanine; Protein Conformation; Pseudomonas aeruginosa; Pseudomonas aeruginosa Exotoxin A; Receptors, Cell Surface; Receptors, Cholinergic; Virulence Factors; X-Ray Diffraction | 1989 |
Rapid screening for delta F508 deletion in cystic fibrosis.
Topics: Amino Acid Sequence; Chromosome Deletion; Cystic Fibrosis; DNA; Gene Amplification; Genes, Regulator; Genetic Testing; Humans; Molecular Sequence Data; Phenylalanine | 1989 |
Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted.
Topics: Amino Acid Sequence; Anemia; Child, Preschool; Chromosome Deletion; Female; Genetic Variation; Hemoglobin A; Hemoglobins, Abnormal; Humans; Molecular Sequence Data; Mutation; Phenylalanine | 1989 |
Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys).
Topics: alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; Amino Acid Sequence; Arginine; Aspartic Acid; Base Sequence; Chromosome Deletion; Cysteine; Genes; Genetic Variation; Humans; Molecular Sequence Data; Oligonucleotide Probes; Phenylalanine; Valine | 1989 |
Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.
Topics: Adolescent; Adult; Catecholamines; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 15; Eye Color; Female; Hair Color; Humans; Infant; Male; Melanocyte-Stimulating Hormones; Phenylalanine; Pigmentation Disorders; Prader-Willi Syndrome; Skin; Tyrosine | 1989 |
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Topics: Adrenal Hyperplasia, Congenital; Aldehyde-Lyases; Amino Acid Sequence; Animals; Base Sequence; Cell Line; Chromosome Deletion; Cytochrome P-450 Enzyme System; DNA; Female; Genes; Humans; Karyotyping; Leukocytes; Molecular Sequence Data; Mutation; Phenylalanine; Steroid 17-alpha-Hydroxylase; Steroid Hydroxylases | 1989 |