thymidine has been researched along with Syndrome in 28 studies
Syndrome: A characteristic symptom complex.
Excerpt | Relevance | Reference |
---|---|---|
"We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome." | 8.75 | [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975) |
"We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome." | 4.75 | [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975) |
"We identified a single thymidine insertion at nucleotide position 5537 (T5537i) in the mitochondrial DNA transfer RNA gene for tryptophan in a family in which the proband had a progressive neurological disorder and his brother died in infancy of Leigh syndrome." | 3.69 | Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. ( De Vivo, DC; DiMauro, S; El-Shahawi, M; Kranz-Eble, P; Sano, M; Santorelli, FM; Shanske, S; Tanji, K, 1997) |
" On examination, the biological activities of insulin and insulin-like growth factor I in the patient's cultured fibroblasts, insulin sensitivity of amino isobutyric acid uptake and thymidine incorporation was decreased, but insulin-like growth factor I action was normal." | 3.68 | A mutation (Trp1193-->Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance. ( Egawa, K; Haruta, T; Imamura, T; Ishibashi, O; Itazu, T; Iwanishi, M; Kobayashi, M; Naitou, K; Sasaoka, T; Takata, Y, 1993) |
"A double labeling method with two levels of tritiated thymidine was used to study 6 patients with seborrheic keratosis, 1 with a fibroepithelial tumor of Pinkus, and 1 with basal cell nevus syndrome manifesting three pits on the palm of the hand." | 3.65 | Kinetics of cell proliferation in benigh and premalignant tumors of the human epidermis. ( Achten, G; Galand, P; Heenen, M; Lambert, JC, 1975) |
"APECED is caused by alteration in a single gene, named the autoimmune regulator (AIRE) gene." | 1.32 | Novel compound heterozygous AIRE mutations in a Japanese patient with APECED. ( Asakura, Y; Horikawa, R; Katsumata, N; Kitanaka, S; Sato, U; Tanaka, T, 2004) |
"DiGeorge syndrome is broadly defined as absence or hypoplasia of the thymus due to dysmorphogenesis of the third and fourth pharyngeal pouches in early embryonic life." | 1.25 | T-cell deficiency in diGeorge syndrome. ( Huff, DS; Lischner, HW, 1975) |
"A patient presenting with unilateral ectromelia, psoriasiform dermatosis and central nervous system abnormalities has been studied." | 1.25 | Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies. ( Frost, P; Nyhan, WL; Shear, CS; Weinstein, GD, 1971) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 18 (64.29) | 18.7374 |
1990's | 5 (17.86) | 18.2507 |
2000's | 4 (14.29) | 29.6817 |
2010's | 1 (3.57) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Lin, L | 1 |
Ge-Er, L | 1 |
Fang-Zhou, Y | 1 |
Bao-Chang, C | 1 |
Chunqin, M | 1 |
Tu-Lin, L | 1 |
De, J | 1 |
Moran, NF | 1 |
Bain, MD | 1 |
Muqit, MM | 1 |
Bax, BE | 1 |
Sato, U | 1 |
Horikawa, R | 1 |
Katsumata, N | 1 |
Asakura, Y | 1 |
Kitanaka, S | 1 |
Tanaka, T | 1 |
Wilson, FH | 1 |
Hariri, A | 1 |
Farhi, A | 1 |
Zhao, H | 1 |
Petersen, KF | 1 |
Toka, HR | 1 |
Nelson-Williams, C | 1 |
Raja, KM | 1 |
Kashgarian, M | 1 |
Shulman, GI | 1 |
Scheinman, SJ | 1 |
Lifton, RP | 1 |
Slama, A | 1 |
Lacroix, C | 1 |
Plante-Bordeneuve, V | 1 |
Lombès, A | 1 |
Conti, M | 1 |
Reimund, JM | 1 |
Auxenfants, E | 1 |
Crenn, P | 1 |
Laforêt, P | 1 |
Joannard, A | 1 |
Seguy, D | 1 |
Pillant, H | 1 |
Joly, P | 1 |
Haut, S | 1 |
Messing, B | 1 |
Said, G | 1 |
Legrand, A | 1 |
Guiochon-Mantel, A | 1 |
Kaplowitz, PB | 1 |
D'Ercole, AJ | 1 |
Wickramasinghe, SN | 1 |
Hughes, M | 1 |
Podskalny, JM | 1 |
Kahn, CR | 1 |
Muncher, Y | 1 |
Sod-Moriah, UA | 1 |
Weil, S | 1 |
Rosenstrauch, AW | 1 |
Friedländer, M | 1 |
Iwanishi, M | 1 |
Haruta, T | 1 |
Takata, Y | 1 |
Ishibashi, O | 1 |
Sasaoka, T | 1 |
Egawa, K | 1 |
Imamura, T | 1 |
Naitou, K | 1 |
Itazu, T | 1 |
Kobayashi, M | 1 |
Freeth, JS | 1 |
Ayling, RM | 1 |
Whatmore, AJ | 1 |
Towner, P | 1 |
Price, DA | 1 |
Norman, MR | 1 |
Clayton, PE | 1 |
Santorelli, FM | 1 |
Tanji, K | 1 |
Sano, M | 1 |
Shanske, S | 1 |
El-Shahawi, M | 1 |
Kranz-Eble, P | 1 |
DiMauro, S | 1 |
De Vivo, DC | 1 |
Touraine, JL | 1 |
Touraine, F | 1 |
Incefy, GS | 1 |
Good, RA | 1 |
Kunze, J | 1 |
Tolksdorf, M | 1 |
Wiedemann, HR | 1 |
Heenen, M | 1 |
Lambert, JC | 1 |
Achten, G | 1 |
Galand, P | 1 |
Lafforet, D | 1 |
Dupuy, JM | 1 |
Schmickel, RD | 1 |
Chu, EH | 1 |
Trosko, JE | 1 |
Chang, CC | 1 |
Lischner, HW | 1 |
Huff, DS | 1 |
Hiramoto, K | 1 |
Narahara, K | 1 |
Kimoto, H | 1 |
Curry, CJ | 1 |
O'Lague, P | 1 |
Tsai, J | 1 |
Hutchison, HT | 1 |
Jaspers, NG | 1 |
Wara, D | 1 |
Gatti, RA | 1 |
Hutchinson, HT | 1 |
Golde, DW | 1 |
Schooley, JC | 1 |
Cline, MJ | 1 |
Venetianer, A | 1 |
Dallmann, L | 1 |
László, A | 1 |
Burg, K | 1 |
Paton, GR | 1 |
Silver, MF | 1 |
Allison, AC | 1 |
Regan, JD | 1 |
Setlow, RB | 1 |
Epstein, J | 1 |
Williams, JR | 1 |
Little, JB | 1 |
Kakati, S | 1 |
Nihill, M | 1 |
Sinha, AK | 1 |
Steele, RW | 1 |
Limas, C | 1 |
Thurman, GB | 1 |
Schuelein, M | 1 |
Bauer, H | 1 |
Bellanti, JA | 1 |
Shear, CS | 1 |
Nyhan, WL | 1 |
Frost, P | 1 |
Weinstein, GD | 1 |
Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
---|---|---|---|---|---|---|---|
The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) in Patients With MNGIE[NCT03866954] | Phase 2 | 0 participants (Actual) | Interventional | 2024-11-30 | Withdrawn (stopped due to Change of circumstances with Commercial partner) | ||
[information is prepared from clinicaltrials.gov, extracted Sep-2024] |
1 review available for thymidine and Syndrome
Article | Year |
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[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].
Topics: Abnormalities, Multiple; Alkaline Phosphatase; Anus, Imperforate; Autoradiography; Child, Preschool; | 1975 |
27 other studies available for thymidine and Syndrome
Article | Year |
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Metabolomic profiling of the effects of Curcumae rhizoma and Sparganii rhizome on stress-led blood stasis.
Topics: Amino Acids; Animals; Blood; Blood Circulation; Blood Viscosity; Carbon; Curcuma; Disease Models, An | 2018 |
Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE.
Topics: Adult; Deoxyuridine; Drug Delivery Systems; Erythrocyte Transfusion; Erythrocytes; Fatal Outcome; Fe | 2008 |
Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.
Topics: Addison Disease; Adult; AIRE Protein; Asian People; Base Sequence; Candidiasis, Chronic Mucocutaneou | 2004 |
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.
Topics: Adult; Aging; Anticodon; Body Mass Index; Cluster Analysis; Cytidine; Extrachromosomal Inheritance; | 2004 |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Topics: Adult; Child; DNA, Mitochondrial; Humans; Intestinal Pseudo-Obstruction; Mitochondrial Encephalomyop | 2005 |
Fibroblasts from a patient with leprechaunism are resistant to insulin, epidermal growth factor, and somatomedin C.
Topics: Aminoisobutyric Acids; Cell Division; Cells, Cultured; Drug Resistance; Dwarfism; Epidermal Growth F | 1982 |
Globin chain precipitation, deranged iron metabolism and dyserythropoiesis in some thalassaemia syndromes.
Topics: Autoradiography; Chemical Precipitation; Erythrocytes, Abnormal; Erythropoiesis; Globins; Humans; In | 1984 |
Cell culture studies on patients with extreme insulin resistance. II. Abnormal biological responses in cultured fibroblasts.
Topics: Acanthosis Nigricans; Adolescent; Adult; Cells, Cultured; DNA; Dose-Response Relationship, Drug; Dwa | 1982 |
Intratesticular retention of sperm and premature decline in fertility in the domestic rooster, Gallus domesticus.
Topics: Animals; Cell Division; Chickens; Female; Fertility; Infertility, Male; Male; Poultry Diseases; Seme | 1995 |
A mutation (Trp1193-->Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance.
Topics: Adult; Alleles; Amino Acid Sequence; Aminoisobutyric Acids; Base Sequence; Biological Transport; Blo | 1993 |
Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome.
Topics: Cells, Cultured; Female; Fibroblasts; Growth Disorders; Growth Hormone; Humans; Insulin-Like Growth | 1997 |
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
Topics: Adult; Animals; Autopsy; Base Sequence; Child; Cytochrome-c Oxidase Deficiency; DNA Transposable Ele | 1997 |
Effect of thymic factors on the differentiation of human marrow cells into T-lympnocytes in vitro in normals and patients with immunodeficiencies.
Topics: Adult; Animals; Antilymphocyte Serum; Bone Marrow; Bone Marrow Cells; Cattle; Cell Differentiation; | 1975 |
Kinetics of cell proliferation in benigh and premalignant tumors of the human epidermis.
Topics: Carcinoma, Basal Cell; Cell Division; Dermatitis, Seborrheic; Humans; Kinetics; Precancerous Conditi | 1975 |
[Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome].
Topics: Abnormalities, Multiple; Child; Child, Preschool; Diagnosis, Differential; DNA Ligases; DNA Repair; | 1978 |
Cockayne syndrome: a cellular sensitivity to ultraviolet light.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosomes, Human, 6-12 and X; Dwarfism; Female; Fibrobl | 1977 |
T-cell deficiency in diGeorge syndrome.
Topics: Abnormalities, Multiple; Autoradiography; Graft Rejection; Hypersensitivity, Delayed; Immune Adheren | 1975 |
Synchronization culture of amniotic fluid cells using excess thymidine block followed by deoxycytidine release and its application to high-resolution banding analysis of chromosomes.
Topics: Amniotic Fluid; Cell Cycle; Cells, Cultured; Chromosome Aberrations; Chromosome Banding; Chromosome | 1990 |
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.
Topics: Ataxia Telangiectasia; California; Cell Line; Cells, Cultured; Child; Chromosome Aberrations; Chromo | 1989 |
Erythropoietin-stimulated proliferation of human red cell precursors in vitro.
Topics: Anemia, Aplastic; Animals; Antibodies; Autoradiography; Cell Differentiation; Cell Division; Cells, | 1974 |
Detection of mucopolysaccharidoses by sulphate incorporation into stimulated lymphocytes.
Topics: Chondroitin; Diagnosis, Differential; Humans; Intellectual Disability; Lectins; Lymphocytes; Mucopol | 1974 |
Comparison of cell cycle time in normal and trisomic cells.
Topics: Abnormalities, Multiple; Autoradiography; Biopsy; Cell Division; Cells, Cultured; Chromosomes, Human | 1974 |
DNA repair in human progeroid cells.
Topics: Cell Line; Cell Survival; Centrifugation, Density Gradient; Cobalt Radioisotopes; DNA; DNA Repair; F | 1974 |
Rate of DNA repair in progeric and normal human fibroblasts.
Topics: Adult; Carbon Radioisotopes; Cell Line; Centrifugation, Density Gradient; Child; Cobalt Radioisotope | 1974 |
An attempt to establish trisomy 8 syndrome.
Topics: Abnormalities, Multiple; Autoradiography; Chromosomes, Human, 6-12 and X; Female; Humans; Infant; Ka | 1973 |
Familial thymic aplasia. Attempted reconstitution with fetal thymus in a Millipore diffusion chamber.
Topics: Autopsy; Diffusion; Female; Fetus; Gestational Age; Humans; Immunoglobulins; Immunologic Deficiency | 1972 |
Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies.
Topics: Abnormalities, Multiple; Autoradiography; Birth Weight; Cell Division; Central Nervous System; DNA; | 1971 |