cystine and Syndrome

cystine has been researched along with Syndrome in 18 studies

Research

Studies (18)

TimeframeStudies, this research(%)All Research%
pre-199011 (61.11)18.7374
1990's4 (22.22)18.2507
2000's3 (16.67)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Chen, PK; Chuang, WL; Hsiao, M; Hung, KS; Lai, BJ; Shih, TY; Wang, TJ1
DiGiovanna, JJ; Kraemer, KH; Liang, C; Menefee, E; Morris, A; Price, VH; Schiffmann, R1
Tezuka, T1
Arbisser, AI; Collie, WR; Fraustadt, U; Howell, RR; Ibarra, OC; Marshall, RN; Parsons, DS; Scott, CI1
Beemer, FA; Boom, BW; Kleijer, WJ1
Dawber, RP1
Beers, KW; Bottje, WG; Cawthon, D; McNew, R1
Brough, GH; Slagle, AM; Slagle, WS1
Berard, J; Bradley, WE; Burman, KD; Djuh, YY; Fein, HG; Hao, EH; Nicholson, D; Rhooms, P; Usala, SJ; Wartofsky, L1
Finlay, AY; Motley, RJ1
Chapman, S1
Crovato, F; Guarrera, M; Rebora, A1
Potter, JL; Silvidi, AA; Timmons, GD; West, R1
Adeuja, AO; Langman, MJ; Osuntokun, BO; Wilson, J1
Becker, FL; Francke, U; Hammond, DS; Pellett, OL; Schneider, JA1
Kroll, W; Lichte, KH1
Spear, G1
Himaya, A; Mosher, R; Pathak, S1

Reviews

2 review(s) available for cystine and Syndrome

ArticleYear
An update of hair shaft disorders.
    Dermatologic clinics, 1996, Volume: 14, Issue:4

    Topics: Adolescent; Adult; Child; Child, Preschool; Cystine; Diagnosis, Differential; Female; Hair; Hair Diseases; Humans; Infant; Male; Syndrome; Terminology as Topic

1996
Cystinosis: a review of the different forms and of recent advances.
    Humangenetik, 1973, Volume: 20, Issue:2

    Topics: Adult; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Cystine; Cystinosis; Diet Therapy; Dithiothreitol; Fanconi Syndrome; Fibroblasts; Heterozygote; Humans; Hybrid Cells; Infant; Kidney Transplantation; Lymphocytes; Pedigree; Prenatal Diagnosis; Syndrome; Transplantation, Homologous

1973

Trials

2 trial(s) available for cystine and Syndrome

ArticleYear
Evidence of mitochondrial dysfunction in broilers with pulmonary hypertension syndrome (Ascites): effect of t-butyl hydroperoxide on hepatic mitochondrial function, glutathione, and related thiols.
    Poultry science, 1999, Volume: 78, Issue:1

    Topics: Adenosine Diphosphate; Animals; Ascites; Chickens; Cystine; Glutathione; Hypertension, Pulmonary; Male; Mitochondria, Liver; Oxidation-Reduction; Oxygen; Oxygen Consumption; Poultry Diseases; Syndrome; tert-Butylhydroperoxide

1999
Controlled trial of combinations of hydroxocobalamin-cystine and riboflavine-cystine, in Nigerian ataxic neuropathy.
    Journal of neurology, neurosurgery, and psychiatry, 1974, Volume: 37, Issue:1

    Topics: Ataxia; Cyanides; Cystine; Deafness; Evaluation Studies as Topic; Female; Humans; Hydroxocobalamin; Male; Middle Aged; Nigeria; Optic Atrophy; Peripheral Nervous System Diseases; Placebos; Poisoning; Riboflavin; Riboflavin Deficiency; Syndrome; Thiocyanates; Vitamin B 12

1974

Other Studies

14 other study(ies) available for cystine and Syndrome

ArticleYear
Beare-Stevenson cutis gyrata syndrome with Chiari malformation.
    Acta neurochirurgica, 2002, Volume: 144, Issue:7

    Topics: Abnormalities, Multiple; Adult; Amino Acid Substitution; Arnold-Chiari Malformation; Craniosynostoses; Cystine; Female; Humans; Hydrocephalus; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Postoperative Complications; Pregnancy; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Reoperation; Syndrome; Tomography, X-Ray Computed; Tyrosine; Ultrasonography, Prenatal

2002
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy.
    Journal of the American Academy of Dermatology, 2005, Volume: 52, Issue:2

    Topics: Cystine; Darier Disease; DNA Repair; Ectodermal Dysplasia; Hair; Hair Diseases; Humans; Hyperkeratosis, Epidermolytic; Ichthyosis; Microscopy, Polarization; Photosensitivity Disorders; Sensitivity and Specificity; Sulfur; Syndrome; Xeroderma Pigmentosum

2005
Dyskeratotic process of hyperkeratosis lenticularis perstans (Flegel). The abnormal formation of cystine-rich protein.
    Dermatologica, 1982, Volume: 164, Issue:6

    Topics: Cystine; Female; Histocytochemistry; Humans; Keratosis; Middle Aged; Proteins; Syndrome

1982
The Sabinas syndrome.
    American journal of human genetics, 1981, Volume: 33, Issue:6

    Topics: Adolescent; Adult; Amino Acids; Copper; Cystine; Female; Genes, Recessive; Hair; Hair Diseases; Humans; Intellectual Disability; Male; Mexico; Microscopy, Electron; Nails, Malformed; Pedigree; Syndrome; Zinc

1981
Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.
    American journal of medical genetics, 1994, Aug-15, Volume: 52, Issue:2

    Topics: Alopecia; Child, Preschool; Cystine; DNA Repair; Dwarfism; Fatal Outcome; Female; Hair; Humans; Ichthyosis; Infant, Newborn; Intellectual Disability; Recurrence; Respiratory Tract Infections; Sudden Infant Death; Syndrome; Xeroderma Pigmentosum

1994
Mucus fishing syndrome: case report and new treatment option.
    Optometry (St. Louis, Mo.), 2001, Volume: 72, Issue:10

    Topics: Cystine; Dibenzoxepins; Drug Therapy, Combination; Dry Eye Syndromes; Histamine H1 Antagonists; Humans; Lacrimal Apparatus Diseases; Male; Middle Aged; Mucus; Olopatadine Hydrochloride; Rose Bengal; Syndrome

2001
Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor.
    Journal of endocrinological investigation, 1992, Volume: 15, Issue:8

    Topics: Arginine; Base Sequence; Codon; Cystine; Deoxyribonucleases, Type II Site-Specific; DNA; Drug Resistance; Genetic Linkage; Humans; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Proto-Oncogene Proteins; Receptors, Thyroid Hormone; Syndrome; Thyroid Hormones; Triiodothyronine

1992
A patient with Tay's syndrome.
    Pediatric dermatology, 1989, Volume: 6, Issue:3

    Topics: Ataxia; Child, Preschool; Cystine; Female; Growth Disorders; Hair; Humans; Ichthyosis; Nails, Malformed; Syndrome

1989
The trichothiodystrophy syndrome of Pollitt.
    Pediatric radiology, 1988, Volume: 18, Issue:2

    Topics: Bone Diseases, Metabolic; Child, Preschool; Cystine; Dwarfism; Hair; Humans; Intellectual Disability; Male; Osteosclerosis; Syndrome

1988
Amino acid analysis in hair from PIBI(D)S syndrome.
    Journal of the American Academy of Dermatology, 1986, Volume: 15, Issue:1

    Topics: Amino Acids; Cystine; Female; Hair; Hair Diseases; Humans; Ichthyosis; Phenylalanine; Syndrome

1986
Arginosuccinicaciduria. The hair abnormality.
    American journal of diseases of children (1960), 1974, Volume: 127, Issue:5

    Topics: Amino Acids; Ammonia; Arginine; Ataxia; Blood Urea Nitrogen; Child, Preschool; Chromatography, Paper; Cystine; Electroencephalography; Epilepsy, Tonic-Clonic; Female; Hair; Humans; Intellectual Disability; Metabolism, Inborn Errors; Stress, Mechanical; Succinates; Syndrome

1974
Properties of cystinotic fibroblast-D98 cell hybrids studied by somatic cell hybridization.
    Nature, 1973, Aug-03, Volume: 244, Issue:5414

    Topics: Cell Line; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes; Clone Cells; Cystine; Cystinosis; Fanconi Syndrome; Female; Fibroblasts; Glucosephosphate Dehydrogenase; Humans; Hybrid Cells; Hypoxanthines; Isoenzymes; Karyotyping; Syndrome

1973
The proximal tubule and the podocyte in cystinosis.
    Nephron, 1973, Volume: 10, Issue:1

    Topics: Child, Preschool; Cystine; Cystinosis; Epithelial Cells; Fanconi Syndrome; Female; Humans; Kidney Tubules; Kidney Tubules, Proximal; Male; Microscopy; Microscopy, Electron; Syndrome

1973
The small-for-dates syndrome: some biochemical considerations in prenatal diagnosis.
    American journal of obstetrics and gynecology, 1974, Volume: 120, Issue:1

    Topics: Adult; Alkaline Phosphatase; Aminopeptidases; Birth Weight; Clinical Enzyme Tests; Cystine; Estrogens; Female; Glucuronidase; Hexosaminidases; Humans; Hypertension; Infant, Newborn; Placenta Diseases; Pre-Eclampsia; Pregnancy; Pregnancy Complications, Cardiovascular; Pregnancy Complications, Infectious; Prenatal Diagnosis; Syndrome; Tritium

1974