Citations with the tag: HUMAN chromosome abnormalities -- Diagnosis

Results 1 - 50

• Multiplex genetic testing.
   // Hastings Center Report; Jul/Aug98, Vol. 28 Issue 4, p15 

  Focuses on the challenges clinicians face in helping patients understand the nature of multiple genetic tests. Definition of multiple genetic testing; Insight into implications of genetic tests; Information on the unique and different backgrounds each type of test require.

• Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician.
  Thomas, Janet A.; Graham Jr., John M. // Clinical Pediatrics; May97, Vol. 36 Issue 5, p253 

  Focuses on the diagnosis of Chromosome 22q11 deletion syndrome, a human chromosome disorder associated with a wide variety of phenotypic abnormalities. Characteristics; Investigations of specific genes involved in the disorder and their functions; Transmission of the disease; Healthwatch for...

• Public gives thumbs down to gene screening.
  Coghlan, Andy // New Scientist; 4/13/96, Vol. 150 Issue 2025, p8 

  Presents the result of a survey on gene screening conducted by Ellen Wright Clayton and his colleagues at Vanderbilt University School of Medicine, Nashville, Tennessee. Response of subjects on an invitation to be screened for hereditary gene defects; Views on genetic testing; Concern over the...

• Psychosocial predictors of interest in prenatal genetic screening.
  Furr, L. Allen; Seger, Rachelle E. // Psychological Reports; Feb98, Vol. 82 Issue 1, p235 

  Presents a study to identify psychosocial predictors of interest in prenatal genetic testing. Data from the 1996 Louisville Metropolitan Survey; Reference to previous studies on the matter; Conclusions of the study.

• Genetic screening provides vital data.
  Furr, L. Allen; Seger, Rachelle E. // USA Today Magazine; Oct93, Vol. 122 Issue 2581, p8 

  Reports on recent developments in methods of genetic screening. Value of genetic screening; Features of genetic diseases; Detection methods.

• The new way to predict your future health.
  Grady, Denise // Redbook; Jul94, Vol. 183 Issue 3, p32 

  Discusses various aspects of genetic screening. Diseases for which genetic tests are available; Research in breast cancer; Participation of patients in experiments; Efforts of scientists to locate the genes responsible for various diseases; Possibility of having healthy babies for parents who...

• Gene testing starts to pay off.
  STIPP, DAVID // Fortune; 8/4/1997, Vol. 136 Issue 3, p25 

  Discusses genotyping, or genetic tests which can determine whether one's genes will cause sickness in the present time. Genotyping compared to predisposition tests, which predict sickness in the future based on genes; Benefits of genotyping; Diseases which can be genotyped including AIDS,...

• Genetic testing and early diagnosis and intervention: Boon or burden?
  Hepburn, Elizabeth R. // Journal of Medical Ethics; Apr96, Vol. 22 Issue 2, p105 

  Focuses on the implications of genetic testing on the possibility of early diagnosis and intervention in medicine. Factors that should govern the approach to the implementation of screening for genetic disorders; Ethical issues raised by diagnostic investigation; Illness and abnormality; Duty of...

• Genetic screening: A comparative analysis of three recent reports.
  Hoedemaekers, Rogeer; Have, Henk ten // Journal of Medical Ethics; Jun97, Vol. 23 Issue 3, p135 

  Discusses three reports on genetic screening which were published in the United Kingdom, Denmark and the Netherlands. What was revealed when the Dutch report was compared to the Danish and the Nuffield reports; What the three reports have in common.

• Genetic testing raises questions for patients.
  Hoedemaekers, Rogeer; Have, Henk ten // San Diego Business Journal; 9/16/96, Vol. 17 Issue 38, p16A 

  Looks at the patient-related issues from genetic testing for disease susceptibility. Description of the testing procedure; Issues of informed consent, confidentiality and access to counseling before and after testing; Question on whether genetic testing can improve psychological well-being,...

• Privacy fears put off patients.
  Hoedemaekers, Rogeer; Have, Henk ten // Nature; 11/28/1996, Vol. 384 Issue 6607, p303 

  Discusses the low number of volunteers for a long-term follow-up study by the University of Pennsylvania Cancer Center of patients with BRCA1 and BRCA2 mutations, which predispose to breast and ovarian cancer. Speculation as to the reason.

• Hemochromatosis: Clinical implications of genetic testing.
  Adams, Paul C. // CMAJ: Canadian Medical Association Journal; 07/28/98, Vol. 159 Issue 2, p156 

  Editorial. Discusses genetic testing for the disease Hemochromatosis. Hemochromatosis as a very common disease affecting Canadians; Detection of the disease by a blood test; Reasons of discrepancy of its genetic prevalence; Population screening studies; The problem of the misdiagnosis of...

• For your eyes only.
  Adams, Paul C. // Hastings Center Report; Mar/Apr94, Vol. 24 Issue 2, p2 

  Reports on the British Nuffield Council for Bioethics' recommendation on genetic tests result disclosure when applying for insurance. Exemptions from disclosure; Background on the Council; Knowledge right for a family on genetic screening of a member.

• Genetic profiles headed for CD-ROM.
  Adams, Paul C. // Best's Review / Property-Casualty Insurance Edition; Sep98, Vol. 98 Issue 5, p86 

  Reports on International Underwriting Services executive vice president Gary Graham's assertion that genetic profiling technology would be used in the insurance industry. Potential of genetic tests to detect inherited disorders; Background on the Human Genome Project in the United States.

• Genetic testing: A tool for doctors, not for insurers.
  McGoodwin, Wendy L. // Journal of Insurance Regulation; Fall96, Vol. 15 Issue 1, p71 

  Reports that there is no role for genetic testing or the use of predictive genetic information in the insurance industry. Identification of the denial of 200 cases in which healthy individuals were denied insurance or employment based on predictive genetic information; Threat of genetic...

• Erratum.
  Gigarel, N.; Frydman, N.; Burlet, P.; Kerbrat, V.; Tachdjian, G.; Fanchin, R.; Antignac, C.; Frydman, R.; Munnich, A.; Steffann, J. // Reproductive BioMedicine Online (Reproductive Healthcare Limited; Mar2008, Vol. 16 Issue 3, p463 

  A correction to the article "Successful preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease by haplotype analysis" is presented.

• Clinical utility gene card for: hypophosphatasia.
  Mornet, Etienne; Beck, Christine; Bloch-Zupan, Agn�s; Girschick, Hermann; Le Merrer, Martine // European Journal of Human Genetics; Mar2011, Vol. 19 Issue 3, p1 

  The article offers information on the clinical utility gene card for diagnosis of hypophosphatasia (HP) in which prevalence of severe cases was one in 100,000 based on the study conducted in Toronto, Ontario.

• Evidence that RME-1, a conserved C. elegans EH-domain protein, functions in endocytic recycling.
  Grant, Barth; Zhang, Yinhua; Paupard, Marie-Christine; Lin, Sharron X.; Hall, David H.; Hirsh, David // Nature Cell Biology; Jun2001, Vol. 3 Issue 6, p573 

  In genetic screens for new endocytosis genes in Caenorhabditis elegans we identified RME-1, a member of a conserved class of Eps15-homology (EH)-domain proteins. Here we show that RME-1 is associated with the periphery of endocytic organelles, which is consistent with a direct role in endocytic...

• Genetic screening for ethnic minorities.
  Modell, Michael; Modell, Bernadette // BMJ: British Medical Journal (International Edition); 6/30/90, Vol. 300 Issue 6741, p1702 

  Focuses on the genetic screening for ethnic minorities at risk of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in Great Britain. Identification of couples at risk of having an affected child; Accuracy of the test to identify carriers of hemoglobin disorders;...

• Direct-access genetic testing: the view from Europe.
  Kricka, Larry J.; Fortina, Paolo; Mai, Yuan; Patrinos, George P. // Nature Reviews Genetics; Jan2012, Vol. 13 Issue 1, p70 

  A correction to the article "Direct-access genetic testing: The view from Europe" that was published in the 2011 issue is presented.

• Is assessment of lipid phenotype needed for cascade genetic screening in Familial Hypercholesterolaemia Families?
  Kricka, Larry J.; Fortina, Paolo; Mai, Yuan; Patrinos, George P. // Journal of Medical Genetics; Sep2007 Supplement 1, Vol. 44, pS67 

  An abstract of the study "Is assessment of lipid phenotype needed for cascade genetic screening in Familial Hypercholesterolaemia Families?," by Alison Taylor, R. D. G. Neely, S. Fairgrieve, D. Wang, S. Humphries and G. Norbury is presented.

• Importance of RBI Promoter Hypermethylation in Retinoblastoma Genetic Screening.
  Kricka, Larry J.; Fortina, Paolo; Mai, Yuan; Patrinos, George P. // Journal of Medical Genetics; Sep2007 Supplement 1, Vol. 44, pS90 

  An abstract of the study "Importance of RBI Promoter Hypermethylation in Retinoblastoma Genetic Screening" is presented.

• Poster presentations: 2. Cytogenetics.
  Kricka, Larry J.; Fortina, Paolo; Mai, Yuan; Patrinos, George P. // Journal of Medical Genetics; Sep2002 Supplement, Vol. 39, pS62 

  Discusses the abstract of the research paper entitled 'AneuVysion--Interpretative problems and ethical dilemmas,' by Lorraine Gregory, N. Leo et al and presented during the British Human Genetics Conference at the University of York in England in September 2002.

• Poster presentations: 3. Molecular Genetics.
  Kricka, Larry J.; Fortina, Paolo; Mai, Yuan; Patrinos, George P. // Journal of Medical Genetics; Sep2002 Supplement, Vol. 39, pS83 

  Discusses the abstract of the research paper entitled 'Candidate gene screening of the VCFS deleted region for mutations associated with schizophrenia,' by Nadine Norton, N.M. Williams et al and presented during the British Human Genetics Conference at the University of York in England in...

• Evaluation of ChromoQuant in vitro diagnostic test kits (versions 1 and 2) for analysis of aneuploidy.
  White, Helen; Durston, V. J.; Harvey, J. F.; Cross, N. C. P. // Journal of Medical Genetics; Sep2005, Vol. 42, pS97 

  Presents an abstract of the article "Evaluation of ChromoQuant In Vitro Diagnostic Test Kits (versions 1 and 2) for Analysis of Aneuploidy," by Helen White, V. J. Durston. J. F. Harvey, and N. C. P. Cross.

• Urologists: Genetic tests beneficial-- and dangerous.
  Nash, Karen // Urology Times; 10/1/2008, Vol. 36 Issue 12, p18 

  The article presents answers to a question on the benefits and drawbacks of urologists' genetic testing for their patients.

• CORRECTION.
  Nash, Karen // Hem/Onc Today; 9/10/2008, Vol. 9 Issue 16, p5 

  A correction to the article "Groundbreaking Genetic Non-Discrimination Bill Signed Into Law" published in the August 10 issue of "HemOnc Today" is presented.

• gene testing.
  Nash, Karen // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p940 

  A definition of the term "gene testing" is presented.

• genetic testing.
  Nash, Karen // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p941 

  A definition of the term "genetic testing," which refers to the examination of an individual's sex or somatic cells to determine the presence of disease-causing genes and chromosomal abnormalities, is presented.

• GPs may control gene test sales.
  Nash, Karen // Pulse; 2/10/2003, Vol. 63 Issue 6, p3 

  Reports on the control of the sale of genetic test kits by general practitioners in Great Britain.

• Genetic Analysis of Males Is Critical.
  Nash, Karen // Fertility Weekly; 11/17/2003, p1 

  Reports on research from Denmark which highlighted the importance of genetic analysis in men being treated with intracytoplasmic sperm injection to prevent genetic alterations from being passed on to potential offspring.

• Pros and cons of genetic screening for breast cancer.
  LYNCH, HENRY T.; LYNCH, JANE F. // American Family Physician; 01/01/99, Vol. 59 Issue 1, p43 

  Details the advantages and disadvantages of genetic screening for breast cancer. Review of related studies; Limitations of DNA testing; Questions that physicians need to address.

• The astonishing, sometimes scary world of genetic testing.
  Dold, Catherine // Cosmopolitan; Nov94, Vol. 217 Issue 5, p210 

  Focuses on genetic testing for women. Links between genes and several diseases; Test procedures; Availabilities; Genetic counseling; Discussion of test results; Right to privacy; Discrimination. INSETS: Just what is genetic counseling?.;The bright side of testing.;Genetic testing..

• Your Medical Heritage Chart.
  Ridley, Teresa L. // Essence (Essence); Dec99, Vol. 30 Issue 8, p40 

  Presents several issues that should be noted when considering genetic testing. Lack of medical options; Lack of certainty; Confidentiality and discrimination.

• Me and my genes.
  Fox, Marisa // Harper's Bazaar; Aug98, Issue 3441, p92 

  Discusses the genetic heritage of Sasha Charnin Morrison, market director of `Bazaar.' Why Morrison decided to change her gynecologist; Details on gene testing undergone by Morrison to confirm the genetic risks of her pregnancy; How Morrison reacted to the negative results of the testing. ...

• Evidence based screening for Down's syndrome.
  Raeburn, Sandy // BMJ: British Medical Journal (International Edition); 03/04/2000, Vol. 320 Issue 7235, p592 

  Discusses the need for a review and audit of serum screening for Down's syndrome in Great Britain. Average detection rate of Down's syndrome in one Southampton maternity hospital; Options for couples with serum screening for chromosome anomalies; Advice to couples planning pregnancy.

• Test anxiety.
  Raeburn, Sandy // Machine Design; 1/10/94, Vol. 66 Issue 1, p106 

  Reports on policy guidelines of the Institute of Medicine of the National Academy of Sciences on genetic testing. Compliance rates of voluntary newborn testing; Ethical basis for mandatory screening.

• Genetic testing prompts new Ins. plan proposal.
  Brostoff, Steven // National Underwriter / Property & Casualty Risk & Benefits Manag; 4/15/96, Vol. 100 Issue 16, p33 

  Focuses on the problems encountered by genetic testing in the life and health insurance markets. Problem-solving technique offered by Alexander Tabarrok, a Ball State University professor; Issues discussed at the Washington-based Competitive Enterprise Institute's insurance seminar;...

• Using genetic screening in your practice.
  Brostoff, Steven // Patient Care; 11/15/1998, Vol. 32 Issue 18, p55 

  Explains how physicians can effectively handle genetic testing and screening of their patients. Steps in evaluating the patient's genetic history; Explanation of the complicated concepts involved in genetic testing to the patient; Search for a genetic counselor or medical geneticist with whom...

• Genetic testing for cancer.
  Muirhead, Greg // Patient Care; 2/15/2000, Vol. 34 Issue 3, p130 

  Focuses on the use of genetic testing in the diagnosis of cancer. Genetic tests' search for variations from normal DNA sequences; Association of gene mutations with a cancer disposition syndrome; Use of genetic testing in screening for inherited cancer. INSET: Update on the human genome project..

• Down's Syndrome: New Test Doesn't Help Much.
  Moore, Amy Slugg // RN; Jun2000, Vol. 63 Issue 6, p17 

  Reports on the reliability of serum screening for Down's Syndrome. Traditional method of using a mother's age and routine ultrasound.

• Private parts.
  Cook-Deegan, Robert // Sciences; Mar/Apr94, Vol. 34 Issue 2, p18 

  Focuses on genetic testing and its power to expose the body's most intimate secrets. Collaboration between Nancy Wexler and the Hereditary Disease Foundation on Huntington's research; Works on the Human Genome Project; Effects of genetic testing on employment and insurance; Conflict over...

• Designing Our Descendants.
  Meilaender, Gilbert // First Things: A Monthly Journal of Religion & Public Life; Jan2001, Issue 109, p25 

  Presents insights into the uses of genetic screening and how individuals should react about research on the shaping of descendants. Emergence of research on Xeno-transplantation and genetic therapy; Era of eugenics that attempts to improved the inherited characteristics of the species.

• 'Appropriate' use of genetic screening offers possibilities.
  Mahony, Chris // People Management; 8/3/2000, Vol. 6 Issue 16, p6 

  Focuses on the proposal of the British government that would allow employers to demand mandatory genetic screening for employees. Criticism against the mandatory screening; Views on a report by the Human Genetics Advisory Commission (HGAC) regarding genetic testing; Suggestion from HGAC.

• Employee genes to determine risk assignments?
  Mahony, Chris // Industrial Safety & Hygiene News; Nov2003, Vol. 37 Issue 11, p10 

  Outlines a report from GeneWater on the threat posed by employee selection based on genetic test results.

• Genetic tests predict thyroid cancer risk, making preventive surgery possible.
  Milne, David // JNCI: Journal of the National Cancer Institute; 9/7/94, Vol. 86 Issue 17, p1268 

  Reports on the development of genetic screening tests that detect a rare, lethal form of thyroid cancer in the preclinical state and which permits early treatment in children predisposed to the disease. Discovery of mutations for multiple endocrine neoplasia type 2A (MEN 2A) in the ret...

• Genetic testing for cancer.
  Glaser, Vicki // Patient Care for the Nurse Practitioner; Feb2000, Vol. 3 Issue 2, p46 

  Presents an article about genetic testing for cancer. Basics for genetic testing; Information on the testable cancers; Practical concerns for genetic testing. INSET: Update on the Human Genome Project.

• Gene testing and work: Not a good fit.
  Smith, S.L. // Occupational Hazards; Jul98, Vol. 60 Issue 7, p38 

  Reports on the use of genetic testing to determine the effects of chemical exposure on employees. Views of a panel of experts at the American Industrial Hygiene Association's Annual Conference and Exhibit in Atlanta, Georgia on this testing; Comments made by Jean Grassman, a researcher with the...

• Health put at risk by insurers' demands for gene test results.
  Kmietowicz, Zosia // BMJ: British Medical Journal (International Edition); 03/01/97, Vol. 314 Issue 7081, p625 

  Focuses on medical ethicists' concerns over the ruling by insurance agencies in Great Britain that requires disclosure of results of genetic tests for policies worth 100,000 pounds and above. Consequences of possible bypassing of normal health services.

• StatBite Genetic Tests Sold Directly to Consumers for Medical Conditions.
  Kmietowicz, Zosia // JNCI: Journal of the National Cancer Institute; Nov2010, Vol. 102 Issue 21, p1612 

  A pie chart is presented that shows data on genetic tests sold directly to consumers for various medical conditions.

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