Exámenes de Detección

NCI CANCERLIT^® Search: Ataxia Telangiectasia - October 2001 Relationship between cellular radiosensitivity and DNA damage measured by comet assay in human normal, NBS and AT fibroblasts. Homologous recombination as a potential target for caffeine radiosensitization in mammalian cells: reduced...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - September 2001 Table of ContentsResidual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.Investigations into the molecular effects of...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - October 2001 Table of Contents No abstracts were found for the month of October. Please consult the November searches. The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. ...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - September 2001 Table of Contents CancerMail from the National Cancer InstituteThere were no topic searches available for the September 2001update. Please consult the October 2001 topic searches....
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - October 2001 Genetics. The land between Mendelian and multifactorial inheritance. Adenoma of the papilla and ampulla--premalignant lesions? Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - September 2001 Table of ContentsQualitative and quantitative relationship between dysplastic aberrant crypt foci and tumorigenesis in the Min/+ mouse colon.[Digestive polyposes: genetic aspects][Clinical follow-up and treatment of patients with familial...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - October 2001 Screening of Bcr-Abl transcripts in Philadelphia negative essential thrombocythemia. Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis. Genetic analysis of carbamoylphosphate synthetase I and ornithine ...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - September 2001 Table of ContentsThe morbid anatomy of the dermatologic genome: an update for the third millennium.A physical and expression map of the D17S1810-D17S1353 region spanning the central areolar choroidal dystrophy locus.[Genetic counselling in...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - October 2001 Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni The role of p53 in human cancer. Recommendations on predictive testing for germ line p53 mutations...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - September 2001 Table of ContentsTissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome.Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome. CancerMail from the National Cancer...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - October 2001 Molecular genetic analysis of ependymal tumors. NF2 mutations and chromosome 22q loss occur preferentially in intramedullary spinal Tumor suppressor gene regulation of cell growth: recent insights into neurofibromatosis 1 and 2 gene...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - September 2001 Table of ContentsMolecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.Bilateral testicular tumour in neurofibromatosis type 1.Duplication and transposition of...
NCI CANCERLIT^® Search: Tuberous Sclerosis - October 2001 Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in A novel missense mutation in the GTPase activating protein homology region of TSC2 in two...
NCI CANCERLIT^® Search: Tuberous Sclerosis - September 2001 Table of ContentsSurvey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.Tuberous sclerosis causing mutants of the TSC2 gene product affect ...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - October 2001 Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes. Table of Contents...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - September 2001 Table of ContentsInvestigating familial endocrine neoplasia syndromes in children.Insights into the role of the von Hippel-Lindau gene product. A key player in hypoxic regulation. CancerMail from the National Cancer Institute1UI -...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - April 2002 A critical role for Pin2/TRF1 in ATM-dependent regulation. Inhibition of Pin2/TRF1 function complements telomere shortening, radiosensitivity, [Chromosome instability syndromes] Recent advances in DNA repair and recombination. A report of the...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - August 2002 Genetics of childhood cancer. Table of Contents 1 UI - 12151885 AU - Ganjavi H; Malkin D TI - Genetics of childhood cancer. SO - Clin Orthop 2002 Aug;(401):75-87 AD - Division of Haematology/Oncology, The Hospital for Sick...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - February 2002 The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias. Breakpoints in the ataxia telangiectasia gene arise at the RGYW somatic hypermutation motif. Etoposide and adriamycin but not genistein...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - January 2002 Genetic interactions between ATM and the nonhomologous end-joining factors in genomic stability and development. Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect. Functional significance of XPD...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - July 2002 [Life without DNA repair] DNA-PK and ATM are required for radiation-enhanced integration. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. Convergence of the fanconi anemia and ataxia telangiectasia signaling ...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - June 2002 High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia Alternative end joining during switch recombination in patients with ataxia-telangiectasia. Ataxia-telangiectasia. ...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - March 2002 ATM function and telomere stability. ATM: genome stability, neuronal development, and cancer cross paths. A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. No germline ATM mutation in a series...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - May 2002 Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. A novel mutation and novel features in Nijmegen breakage syndrome. DNA-PK and ATM are required for radiation-enhanced integration. Table of Contents 1 ...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - October 2002 Normal V(D)J recombination in cells from patients with Nijmegen breakage syndrome. MEC1-dependent redistribution of the Sir3 silencing protein from telomeres to DNA double-strand breaks. Caretaker tumour suppressor genes that defend...
NCI CANCERLIT^® Search: Ataxia Telangiectasia - September 2002 The Saccharomyces cerevisiae MEC1 gene, which encodes a homolog of the human ATM gene product, is required for G1 arrest following radiation The ATM homologue MEC1 is required for phosphorylation of replication protein A in yeast. ...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - April 2002 Familial neurogenic tumor syndromes. Table of Contents 1 UI - 11770299 AU - Kimmelman A; Liang BC TI - Familial neurogenic tumor syndromes. SO - Hematol Oncol Clin North Am 2001 Dec;15(6):1073-84 AD - Mount Sinai-NYU Medical...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - August 2002 The nucleotide: DNA sequencing and its clinical application. Table of Contents 1 UI - 12149740 AU - Kim Y; Donoff RB; Wong DT; Todd R TI - The nucleotide: DNA sequencing and its clinical application. SO - J Oral Maxillofac Surg...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - February 2002 Table of Contents The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - January 2002 PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer. Two male patients with nevoid basal cell carcinoma syndrome from Turkey. Noonan phenotype in the basal cell nevus syndrome. Eye defects with the basal cell nevus...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - July 2002 The aggressive nature of the odontogenic keratocyst: is it a benign cystic neoplasm? Part 2. Proliferation and genetic studies. Basal cell nevus syndrome: guidelines for early detection. Table of Contents 1 UI - 12076694 AU -...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - June 2002 Two-hit model for tumorigenesis of nevoid basal cell carcinoma (Gorlin) syndrome-associated hepatic mesenchymal tumor. Table of Contents 1 UI - 11932998 AU - Koch CA; Chrousos GP; Chandra R; Evangelista RS; Gilbert JC; Nobuhara...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - March 2002 Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. Genetic mutations in certain head and neck conditions of interest to the dentist. Morphometric...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - May 2002 Table of Contents update. The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - October 2002 Table of Contents The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search...
NCI CANCERLIT^® Search: Basal Cell Nevus Syndrome - September 2002 [Gorlin's syndrome. Case report] Table of Contents 1 UI - 11965222 AU - Addessi G; Del Vecchio A; Maggiore C; Ripari M TI - [Gorlin's syndrome. Case report] SO - Minerva Stomatol 2002 Apr;51(4):145-9 AD - Corso di Laurea in...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - April 2002 [Familial colonic polyposis: effect of molecular analysis on the diagnostic-therapeutic approach] Familial colorectal cancer: pathology and molecular characteristics. [Specialized genetic counseling in pediatric and adult oncology ...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - August 2002 Landscaper seeks remunerative position. Current status of genetic testing for colorectal cancer susceptibility. Hereditary cancer: family history, diagnosis, molecular genetics, ecogenetics, and management strategies. APC germline mutations...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - February 2002 Small changes in expression affect predisposition to tumorigenesis. Cancer genetics in oncology practice. Genetic predisposition to clinical manifestations in familial adenomatous polyposis with special reference to duodenal lesions....
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - January 2002 Predictive genetic testing in children and adults: a study of emotional impact. Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis. [Hereditary colorectal carcinomas -...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - July 2002 Genetic and clinical characterisation of familial adenomatous polyposis: a population based study. [Genetic analysis in familial adenomatous polyposis] Mutation cluster region, association between germline and somatic mutations and...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - June 2002 Diversity in polyp pathology and distribution of Familial Juvenile Polyposis Syndrome. Familial colorectal cancer: pathology and molecular characteristics. [Cost-effectiveness of screening in familial adenomatous polyposis] Age-associated...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - March 2002 The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effect. A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations. 1alpha,25-(OH)(2)-D(3) and its...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - May 2002 Familial and inherited colorectal cancer: endoscopic screening and surveillance. Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. [Genetic testing and...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - October 2002 The genetics of colorectal cancer. Summaries for patients. The genetics of colorectal cancer. A Drosophila APC tumour suppressor homologue functions in cellular adhesion. Adenomatous polyposis coli gene as a gatekeeper. The APC gene product...
NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - September 2002 Direct analysis for familial adenomatous polyposis mutations. Flies in the colon. Peutz-Jeghers syndrome. Molecular markers of heterogeneity in colorectal cancers and adenomas. Primary chemoprevention of familial adenomatous polyposis with...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - April 2002 Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. Transferrin gene polymorphism in Alzheimer's disease and dementia with Lewy bodies in humans. Decision analysis of prenatal testing for...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - August 2002 Genes and generalists: why we need professionals with added competencies. Breast cancer risks: some clinically useful approaches. Cystic fibrosis carrier screening. Are nurses ready to be on the front line? Influence of the...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - February 2002 Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer. Identification of proteins that interact with BRCA1 by Far-Western library screening....
NCI CANCERLIT^® Search: Genetic Counseling and Screening - January 2002 [From gene to disease; from BRCA1 or BRCA2 to breast cancer] Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree CUX2, a potential regulator of NCAM...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - July 2002 Collagenase-1 (MMP-1) and HLA-DRB1 gene polymorphisms in rheumatoid arthritis: a prospective longitudinal study. Lack of association between juvenile idiopathic arthritis and fas gene polymorphism. Tumor necrosis factor-alpha gene...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - June 2002 Differences among the polyadenylated RNA sequences of human leucocyte populations: an approach to the objective classification of human Preparation of single chain variable fragment of MG(7) mAb by phage display technology. Share the...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - March 2002 A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene. Compound heterozygosity at the FMR1 gene. Familial dysautonomia and the expansion of the Ashkenazi Jewish carrier screening panel. Rapid...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - May 2002 Diagnosis and treatment of childhood mitochondrial diseases. [From gene to disease; from polycystines to polycystic kidney disease] Categorizing genetic tests to identify their ethical, legal, and social implications. Wnt/wingless signaling...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - October 2002 Support groups for people carrying a BRCA mutation. Somatically mutated Ig V(H)3-21 genes characterize a new subset of chronic lymphocytic leukemia. Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B...
NCI CANCERLIT^® Search: Genetic Counseling and Screening - September 2002 FOXL2 mutation screening in a large panel of POF patients and XX males. Direct analysis for familial adenomatous polyposis mutations. Breast and ovarian cancer screening practices in healthy women with a strong family history of breast or...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - April 2002 [Specialized genetic counseling in pediatric and adult oncology patients] Assessing TP53 status in human tumours to evaluate clinical outcome. Comment on: S.S. Prime et al. "A review of inherited cancer syndromes and their relevance to...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - August 2002 Identification of a rare polymorphism in the human TP53 promoter. Analysis of p53 tumor suppressor gene in families with multiple glioma patients. Genetics of childhood cancer. The Li-Fraumeni syndrome. Table of Contents 1 UI ...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - February 2002 Table of Contents The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - January 2002 Microsatellite instability, PTEN and p53 germline mutations in glioma families. Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Hereditary cancers in obstetrics and gynecology. Denaturing high pressure...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - January 2002 Microsatellite instability, PTEN and p53 germline mutations in glioma families. Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Hereditary cancers in obstetrics and gynecology. Denaturing high pressure...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - July 2002 A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla. Comment on: S.S. Prime et al. "A review of inherited cancer syndromes and their relevance to oral squamous cell carcinoma" Oral...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - June 2002 The IARC TP53 database: new online mutation analysis and recommendations to users. Table of Contents 1 UI - 12007217 AU - Olivier M; Eeles R; Hollstein M; Khan MA; Harris CC; Hainaut P TI - The IARC TP53 database: new online...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - March 2002 Delayed chromosome changes in gamma-irradiated normal and Li-Fraumeni fibroblasts. Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap. Individual-specific liability groups in genetic linkage, with ...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - May 2002 Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. Table of Contents 1 UI - 11950848 AU - de Jong MM; Nolte IM; te Meerman GJ; van der Graaf WT; Oosterwijk JC; TI - Kleibeuker JH; Schaapveld M; de...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - October 2002 Is there anticipation in the age at onset of cancer in families with Li-Fraumeni syndrome? Table of Contents 1 UI - 12181637 AU - Trkova M; Hladikova M; Kasal P; Goetz P; Sedlacek Z TI - Is there anticipation in the age at...
NCI CANCERLIT^® Search: Li-Fraumeni Syndrome - September 2002 Scientists screen embryo for genetic predisposition to cancer. p53 modulation of TFIIH-associated nucleotide excision repair activity. Table of Contents 1 UI - 11420261 AU - Gottlieb S TI - Scientists screen embryo for genetic...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - April 2002 NF1 tumor suppressor mRNA is targeted to the cell-cell contact zone in Ca(2+)-induced keratinocyte differentiation. Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2,...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - August 2002 Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients. Human genome epidemiologic reviews: the beginning of something HuGE. NF1 gene and neurofibromatosis 1. Quantification of NF1 transcripts reveals novel...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - February 2002 A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal Maternal gene effect in neurofibromatosis 2: fact or artefact? p21-activated kinase links Rac/Cdc42 signaling...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - January 2002 A clinical study of patients with multiple isolated neurofibromas. Functional analysis of neurofibromatosis 2 (NF2) missense mutations. Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1. Is the...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - July 2002 Absence of Lisch nodules in sporadic neurofibromatosis type 1 may reflect somatic mosaicism. Frequent genomic imbalances in chromosomes 17, 19, and 22q in peripheral nerve sheath tumours detected by comparative genomic hybridization The...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - June 2002 Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. Peripheral nerve sheath tumors from patients with neurofibromatosis type 1 do not have the chromosomal...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - March 2002 Serotonin transporter gene polymorphism and psychiatric disorders in NF1 patients. Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a Identification...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - May 2002 Diagnosis and management of neurofibromatosis type 1. Comparative gene expression profile analysis of neurofibromatosis 1-associated and sporadic pilocytic astrocytomas. Epidermodysplasia verruciformis associated with neurofibromatosis type ...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - October 2002 Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis...
NCI CANCERLIT^® Search: Neurofibromatosis 1 and 2 - September 2002 A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Epidermal growth factor receptor signaling pathways are associated with tumorigenesis in the Nf1:p53 mouse tumor model. Losses in chromosomes...
NCI CANCERLIT^® Search: Tuberous Sclerosis - April 2002 Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. Molecular genetics and animal models in autistic disorder. Pulmonary genetics, genomics, and gene therapy: conference summary. Giles F....
NCI CANCERLIT^® Search: Tuberous Sclerosis - August 2002 Gangliogliomas: an intriguing tumor entity associated with focal epilepsies. Tuberous sclerosis complex: a review of neurological aspects. Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK...
NCI CANCERLIT^® Search: Tuberous Sclerosis - February 2002 TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. [Mutation and polymorphism in exon...
NCI CANCERLIT^® Search: Tuberous Sclerosis - January 2002 Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with Epilepsy and genetic malformations of the cerebral cortex. Ethical approval for research involving...
NCI CANCERLIT^® Search: Tuberous Sclerosis - July 2002 Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to Bourneville and...
NCI CANCERLIT^® Search: Tuberous Sclerosis - June 2002 Mutational analysis of the von hippel lindau gene in clear cell renal carcinomas from tuberous sclerosis complex patients. Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and...
NCI CANCERLIT^® Search: Tuberous Sclerosis - March 2002 Mutation analysis of the TSC1 and 7TC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. Evidence for separable functions of tuberous...
NCI CANCERLIT^® Search: Tuberous Sclerosis - May 2002 Unilateral angiofibromas. An oligosymptomatic and segmentary form of tuberous sclerosis. Mapping of the tuberous sclerosis genes. Table of Contents 1 UI - 11989480 AU - Del Pozo J; Martinez W; Calvo R; Almagro M; Fonseca E TI - ...
NCI CANCERLIT^® Search: Tuberous Sclerosis - October 2002 TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. Made to measure. Interview by Charlotte Alderman. TSC2 is phosphorylated and inhibited by Akt and suppresses...
NCI CANCERLIT^® Search: Tuberous Sclerosis - September 2002 Tuberous sclerosis. The persistent challenge of clinical diagnosis. SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Functional tyrosine kinase inhibitor profiling: a generally applicable method points to...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - April 2002 Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations. DNA-based presymptomatic diagnosis for the von Hippel-Lindau disease by linkage analysis....
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - August 2002 Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and Re: Percutaneous radio frequency ablation of small renal tumors: initial results. Disruption of a novel...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - February 2002 Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome. Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene. Table of Contents ...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - January 2002 Genetic disorders of endocrine neoplasia. Introduction.. von Hippel-Lindau disease: genetic and clinical observations. Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease. VHL c.505 T>C mutation...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - July 2002 Simultaneous development of pheochromocytomas in prepubertal siblings with von Hippel-Lindau syndrome. Erythropoietin, tumours and the von Hippel-Lindau gene: towards identification of mechanisms and dysfunction of oxygen sensing. Early...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - June 2002 Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene. [Congenital neoplasms] Mutational analysis of the von hippel lindau gene in clear cell renal ...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - March 2002 Familial adult renal neoplasia. The challenge of kidney lesions in von Hippel-Lindau disease. Von Hippel-Lindau disease: gene to bedside. Table of Contents 1 UI - 11826016 AU - Takahashi M; Kahnoski R; Gross D; Nicol D; Teh BT TI - ...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - May 2002 High frequency loss of heterozygosity in von Hippel-Lindau (VHL)-associated and sporadic pancreatic islet cell tumors: evidence for The HIF pathway: implications for patterns of gene expression in cancer. Down-regulation of von Hippel-Lindau...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - October 2002 Molecular basis of the VHL hereditary cancer syndrome. [From gene to disease; Von Hippel-Lindau disease] HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron. ...
NCI CANCERLIT^® Search: Von Hippel-Lindau Syndrome - September 2002 Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter. Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours ...