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This article was published in the following journal.
Name: The Journal of steroid biochemistry and molecular biology
Li-Fraumeni syndrome is a genetic disease that is caused by mutation of the tumor suppressor gene TP53. Patients with this syndrome may develop multiple malignant neoplasms, including brain tumors. We...
Invasive lobular carcinoma (ILC) of the breast has epidemiological, molecular and clinical specificities, and should likely be considered a unique entity. As for genetic susceptibility, CDH1 germline ...
Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant inherited cancer predisposition syndrome associated with germline mutation of the TP53 tumor suppressor gene [1, 2]. It is traditionally charac...
This study is evaluating Whole Body MRI as a possible screening tool to diagnose cancer for people with LFS and other inherited cancer predisposition syndromes.
Background: Nicotinamide riboside (NR) is a vitamin B3 dietary supplement. It may help improve muscle function, that may in turn may improve a person s exercise capacity. Researchers want...
This study will examine metabolic and biological factors in people with Li-Fraumeni syndrome, a rare hereditary disorder that greatly increases a person's susceptibility to cancer. Patient...
Background: - Li Fraumeni Syndrome (LFS) is a highly penetrant, autosomal dominant cancer predisposition disorder. Four main cancer types including sarcoma, adrenocortical ...
1. Clinical description of a French cohort of patients with CHARGE syndrome. 2. Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome ...
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene.
Adverse drug effects associated with CHOLINERGIC ANTAGONISTS. Clinical features include TACHYCARDIA; HYPERTHERMIA; MYDRIASIS, dry skin and dry mucous membranes, decreased bowel sounds and urinary retention in peripheral anticholinergic syndrome; and HALLUCINATIONS; PSYCHOSES; SEIZURES; and COMA in central anticholinergic syndrome.