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La ricerca find articoli where soggetti phrase all words 'genetic screening' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 171 riferimenti
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    1. Mihai, R
      Molecular influences in thyroid and parathyroid surgery

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    2. Clerici, T; Schmid, C; Komminoth, P; Lange, F; Spinas, GA; Brandle, M
      10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods

      SWISS MEDICAL WEEKLY
    3. Vink, T; Hinney, A; van Elburg, AA; van Goozen, SHM; Sandkuijl, LA; Sinke, RJ; Herpertz-Dahlmann, BM; Hebebrand, J; Remschmidt, H; van Engeland, H; Adan, RAH
      Association between an agouti-related protein gene polymorphism and anorexia nervosa

      MOLECULAR PSYCHIATRY
    4. Shaw, JS; Bassi, KL
      Lay attitudes toward genetic testing for susceptibility to inherited diseases

      JOURNAL OF HEALTH PSYCHOLOGY
    5. Alderson, P; Aro, AR; Dragonas, T; Ettorre, E; Hemminki, E; Jalinoja, P; Santalahti, P; Tymstra, T
      Prenatal screening and genetics

      EUROPEAN JOURNAL OF PUBLIC HEALTH
    6. Culver, JO; Hull, JL; Dunne, DFB; Burke, W
      Oncologists' opinions on genetic testing for breast and ovarian cancer

      GENETICS IN MEDICINE
    7. Larsen, LA; Johnson, M; Brown, C; Christiansen, M; Frank-Hansen, R; Vuust, J; Andersen, PS
      Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

      HUMAN MUTATION
    8. Chae, J; Minami, N; Jin, Y; Nakagawa, M; Murayama, K; Igarashi, F; Nonaka, I
      Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

      NEUROMUSCULAR DISORDERS
    9. Swanson, JR; Pearson, TA
      Screening family members at high risk for coronary disease - Why isn't it done?

      AMERICAN JOURNAL OF PREVENTIVE MEDICINE
    10. Williams, ED
      Informed consent in genetic research

      CROATIAN MEDICAL JOURNAL
    11. Quinzii, C; Belpinati, F; Pignatti, PF
      Predictive genetic testing - New possibilities in determination of risk ofcomplex diseases

      CROATIAN MEDICAL JOURNAL
    12. Cruickshank, JK; Mbanya, JC; Wilks, R; Balkau, B; McFarlane-Anderson, N; Forrester, T
      Sick genes, sick individuals or sick populations with chronic disease? Theemergence of diabetes and high blood pressure in African-origin populations

      INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
    13. Qureshi, N; Standen, PJ; Hapgood, R; Hayes, J
      A randomized controlled trial to assess the psychological impact of a family history screening questionnaire in general practice

      FAMILY PRACTICE
    14. Kallinen, J; Heinonen, S; Palotie, A; Mannermaa, A; Ryynanen, M
      Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland

      PRENATAL DIAGNOSIS
    15. Sung, WC; Lee, GB; Tzeng, CC; Chen, SH
      Plastic microchip electrophoresis for genetic screening: The analysis of polymerase chain reactions products of fragile X (CGG)n alleles

      ELECTROPHORESIS
    16. Murry, WD; Wimbush, JC; Dalton, DR
      Genetic screening in the workplace: Legislative and ethical implications

      JOURNAL OF BUSINESS ETHICS
    17. Holve, S; Hu, D; McCandless, SE
      Metachromatic leukodystrophy in the Navajo: Fallout of the American-Indianwars of the nineteenth century

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Jallinoja, P
      Genetic screening in maternity care: preventive aims and voluntary choices

      SOCIOLOGY OF HEALTH & ILLNESS
    19. Dahl, M; Nordestgaard, BG; Lange, P; Tybjaerg-Hansen, A
      Fifteen-year follow-up of pulmonary function in individuals heterozygous for the cystic fibrosis phenylalanine-508 deletion

      JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
    20. Novoa, MD; Labbe, C; Jorquera, H; Moreno, F; Aguirre, ME; Cifuentes, L
      Study of three hypervariable loci in a mixed Chilean population

      REVISTA MEDICA DE CHILE
    21. Singh, SJ; Rao, P; Stockton, V; Resurreccion, L; Cummins, G
      Familial presacral masses: Screening pitfalls

      JOURNAL OF PEDIATRIC SURGERY
    22. Fung, JL; Weier, HUG; Pedersen, RA
      Detection of structural and numerical chromosome abnormalities in interphase cells using spectral imaging

      JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
    23. Best, LG; Harris, PE; Spriggs, EL
      Hemochromatosis mutations C282Y and H63D in 'cis' phase

      CLINICAL GENETICS
    24. Paternostro, G; Vignola, C; Bartsch, DU; Omens, JH; McCulloch, AD; Reed, JC
      Age-associated cardiac dysfunction in Drosophila melanogaster

      CIRCULATION RESEARCH
    25. Hong, SJ; Mikkelsen, R; Preiss, J
      Analysis of the amino terminus of maize branching enzyme II by polymerase chain reaction random mutagenesis

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    26. Koscica, KL; Canterino, JC; Harrigan, JT; Dalaya, T; Ananth, CA; Vintzileos, AM
      Assessing genetic risk: Comparison between the referring obstetrician and genetic counselor

      AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
    27. Gotlieb, WH; Baruch, GB; Friedman, E
      Prophylactic oophorectomy: Clinical considerations

      SEMINARS IN SURGICAL ONCOLOGY
    28. Chappuis, PO; Nethercot, V; Foulkes, WD
      Clinico-pathological characteristics of BRCA1-and BRCA2-related breast cancer

      SEMINARS IN SURGICAL ONCOLOGY
    29. Lynch, HT; Lynch, JF
      Hereditary nonpolyposis colorectal cancer

      SEMINARS IN SURGICAL ONCOLOGY
    30. Lal, G; Gallinger, S
      Familial adenomatous polyposis

      SEMINARS IN SURGICAL ONCOLOGY
    31. Phay, JE; Moley, JF; Lairmore, TC
      Multiple endocrine neoplasias

      SEMINARS IN SURGICAL ONCOLOGY
    32. Kash, KM; Ortega-Verdejo, K; Dabney, MK; Holland, JC; Miller, DG; Osborne, MP
      Psychosocial aspects of cancer genetics: Women at high risk for breast andovarian cancer

      SEMINARS IN SURGICAL ONCOLOGY
    33. Anderlik, MR; Lisko, EA
      Medicolegal and ethical issues in genetic cancer syndromes

      SEMINARS IN SURGICAL ONCOLOGY
    34. Stopfer, JE
      Genetic counseling and clinical cancer genetics services

      SEMINARS IN SURGICAL ONCOLOGY
    35. Bierut, LJ; Schuckit, MA; Hesselbrock, V; Reich, T
      Co-occurring risk factors for alcohol dependence and habitual smoking - Results from the collaborative study an the genetics of alcoholism

      ALCOHOL RESEARCH & HEALTH
    36. Cao, A; Moi, P
      Genetic modifying factors in beta-thalassemia

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    37. Rickords, LF
      Preimplantation genetic testing

      JOURNAL OF CLINICAL LIGAND ASSAY
    38. Escher, M; Sappino, AP
      Primary care physicians' knowledge and attitudes towards genetic testing for breast-ovarian cancer predisposition

      ANNALS OF ONCOLOGY
    39. Ashavaid, TF; Kondkar, AA; Nair, KG
      Identification of two LDL receptor mutations causing familial hypercholesterolemia in Indian subjects

      JOURNAL OF CLINICAL LABORATORY ANALYSIS
    40. Vandale, SE; Bingham, E
      A curriculum for environmental genetics education

      AMERICAN JOURNAL OF PREVENTIVE MEDICINE
    41. Takala, T; Gylling, HA
      Who should know about our genetic makeup and why?

      JOURNAL OF MEDICAL ETHICS
    42. Smith, K
      Genetic testing of the general population: Ethical and informatic concerns

      CRITICAL REVIEWS IN BIOMEDICAL ENGINEERING
    43. Petrou, M; Modell, B; Shetty, S; Khan, M; Ward, RHT
      Long-term effect of prospective detection of high genetic risk on couples'reproductive life: data for thalassaemia

      PRENATAL DIAGNOSIS
    44. Fijal, BA; Hall, JM; Witte, JS
      Clinical trials in the genomic era: Effects of protective genotypes on sample size and duration of trial

      CONTROLLED CLINICAL TRIALS
    45. Bajaj, S; Welsh, JB; Leif, RC; Price, JH
      Ultra-rare-event detection performance of a custom scanning cytometer on amodel preparation of fetal nRBCs

      CYTOMETRY
    46. Minatogawa, Y; Sugimoto, A; Tatsumi, K; Miyazaki, S; Tabuchi, A
      Genetic screening of Leber's hereditary optic neuropathy by PCR with wholeblood cell lysate

      NEURO-OPHTHALMOLOGY
    47. Motulsky, AG; Beutler, E
      Population screening in hereditary hemochromatosis

      ANNUAL REVIEW OF PUBLIC HEALTH
    48. Honnor, M; Zubrick, SR; Walpole, I; Bower, C; Goldblatt, J
      Population screening for cystic fibrosis in Western Australia: Community response

      AMERICAN JOURNAL OF MEDICAL GENETICS
    49. Kallinen, J; Heinonen, S; Mannermaa, A; Ryynanen, M
      Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation

      CLINICAL GENETICS
    50. Bertolini, S; Simone, ML; Pes, GM; Ghisellini, M; Rolleri, M; Bellocchio, A; Elicio, N; Masturzo, P; Calandra, S
      Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr(302) > Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)

      CLINICAL GENETICS
    51. Greaves, M; Baglin, T
      Laboratory testing for heritable thrombophilia: Impact on clinical management of thrombotic disease

      BRITISH JOURNAL OF HAEMATOLOGY
    52. Liu, YT; Old, JM; Miles, K; Fisher, CA; Weatherall, DJ; Clegg, JB
      Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions

      BRITISH JOURNAL OF HAEMATOLOGY
    53. El-Serag, HB; Inadomi, JM; Kowdley, KV
      Screening for hereditary hemochromatosis in siblings and children of affected patients - A cost-effectiveness analysis

      ANNALS OF INTERNAL MEDICINE
    54. Duhamel, JF
      Cystic fibrosis: advances in screening and management

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    55. Munnich, A
      Genetic testing: A prediction or a malediction?

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    56. Deugnier, Y; Moirand, R
      Iron overload and public health

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    57. Houdayer, C; Lemonnier, A; Gerard, M; Chauve, C; Tredano, M; de Villemeur, TB; Aymard, P; Bonnefont, JP; Feldmann, D
      Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    58. Asanuma, A; Ohura, T; Ogawa, E; Sato, S; Igarashi, Y; Matsubara, Y; Iinuma, K
      Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

      JOURNAL OF HUMAN GENETICS
    59. Hoedemaekers, R; ten Have, H
      The concept of abnormality in medical genetics

      THEORETICAL MEDICINE AND BIOETHICS
    60. Rawbone, RG
      Future impact of genetic screening in occupational and environmental medicine

      OCCUPATIONAL AND ENVIRONMENTAL MEDICINE
    61. Marshall, DS; Linfert, DR; Tsongalis, GJ
      Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    62. Bennett, RL; Hudgins, L; Smith, CO; Motulsky, AG
      Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines

      GENETICS IN MEDICINE
    63. Christiansen, L; Ged, C; Hombrados, I; Brons-Poulsen, J; Fontanellas, A; de Verneuil, H; Horder, M; Petersen, NE
      Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterizationof six novel mutations associated with familial PCT

      HUMAN MUTATION
    64. Larsen, LA; Christiansen, M; Vuust, J; Andersen, PS
      High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

      HUMAN MUTATION
    65. Ryynanen, M; Heinonen, S; Makkonen, M; Kajanoja, E; Mannermaa, A; Pertti, K
      Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies

      EUROPEAN JOURNAL OF HUMAN GENETICS
    66. Rottoli, A; Gianni, ML; Verduci, E; Biondi, ML; Fiori, L; Giovannini, M; Riva, E
      Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study

      JOURNAL OF MEDICAL SCREENING
    67. Gasparini, P; Arbustini, E; Restagno, G; Zelante, L; Stanziale, P; Gatta, L; Sbaiz, L; Sedita, AM; Banchieri, N; Sapone, L; Fiorucci, GC; Brinson, E; Shulse, E; Rappaport, E; Fortina, P
      Analysis of 31 CFTR mutations by polymerase chain reaction oligonucleotideligation assay in a pilot screening of 4476 newborns for cystic fibrosis

      JOURNAL OF MEDICAL SCREENING
    68. Wildhagen, MF; van Os, TAM; Polder, JJ; ten Kate, LP; Habbema, JDF
      Efficacy of cascade testing for fragile X syndrome

      JOURNAL OF MEDICAL SCREENING
    69. McClean, E; Graham, CA; Ward, AJ; Young, IS; Martin, S; Nicholls, DP
      Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland

      BRITISH JOURNAL OF BIOMEDICAL SCIENCE
    70. Suchard, MA; Yudkin, P; Sinsheimer, JS; Fowler, GH
      General practitioners' views on genetic screening for common diseases

      BRITISH JOURNAL OF GENERAL PRACTICE
    71. Lecoq, I; Brouard, J; Laroche, D; Ferec, C; Travert, G
      Blood immunoreactive trypsinogen concentrations are genetically determinedin healthy and cystic fibrosis newborns

      ACTA PAEDIATRICA
    72. Cogswell, ME; Burke, W; McDonnell, SM; Franks, AL
      Screening for hemochromatosis - A public health perspective

      AMERICAN JOURNAL OF PREVENTIVE MEDICINE
    73. Nejentsev, S; Sjoroos, M; Soukka, T; Knip, M; Simell, O; Lovgren, T; Ilonen, J
      Population-based genetic screening for the estimation of Type 1 diabetes mellitus risk in Finland: selective genotyping of markers in the HLA-DQB1, HLA-DQA1 and HLA-DRB1 loci

      DIABETIC MEDICINE
    74. Chasen, ST; Loeb-Zeitlin, S; Landsberger, EJ
      Hemoglobinopathy screening in pregnancy: Comparison of two protocols

      AMERICAN JOURNAL OF PERINATOLOGY
    75. Metsa-Ketela, M; Salo, V; Halo, L; Hautala, A; Hakala, J; Mantsala, P; Ylihonko, K
      An efficient approach for screening minimal PKS genes from Streptomyces

      FEMS MICROBIOLOGY LETTERS
    76. Cook, ED
      Genetics and the British insurance industry

      JOURNAL OF MEDICAL ETHICS
    77. Henn, W
      Genetic screening with the DNA chip: a new Pandora's box?

      JOURNAL OF MEDICAL ETHICS
    78. Emery, J; Watson, E; Rose, P; Andermann, A
      A systematic review of the literature exploring the role of primary care in genetic services

      FAMILY PRACTICE
    79. Tsai, YH
      Cost-effective one-step PCR amplification of cystic fibrosis Delta F508 fragment in a single cell for preimplantation genetic diagnosis

      PRENATAL DIAGNOSIS
    80. van Balen, F; Vergeer, MM; Geraedts, JPM
      Perspectives of new reproductive and diagnostic techniques among biologists and physicians, social scientists and ethicists

      JOURNAL OF PSYCHOSOMATIC OBSTETRICS AND GYNECOLOGY
    81. Yu, MS; Norris, JM; Mitchell, CM; Butler-Simon, N; Groshek, M; Follansbee, D; Erlich, H; Rewers, M; Klingensmith, GJ
      Impact on maternal parenting stress of receipt of genetic information regarding risk of diabetes in newborn infants

      AMERICAN JOURNAL OF MEDICAL GENETICS
    82. Shakespeare, T
      'Losing the plot'? Medical and activist discourses of contemporary genetics and disability

      SOCIOLOGY OF HEALTH & ILLNESS
    83. Ramulu, KS; Sharma, VK; Naumova, TN; Dijkhuis, P; Campagne, MMV
      Apomixis for crop improvement

      PROTOPLASMA
    84. Lewis, V; Saller, DN; Kouides, RW; Garza, J
      Survey of genetic screening for oocyte donors

      FERTILITY AND STERILITY
    85. Lisker, R; Carnevale, A; Armendares, S
      Mexican geneticists' views of ethical issues in genetics testing and screening. Are eugenic principles involved?

      CLINICAL GENETICS
    86. Potter, JL; Timmons, GD; Kofron, WG
      Radiocontrast interference in screening tests for genetic-metabolic diseases

      CLINICA CHIMICA ACTA
    87. Wenstrom, KD; Descartes, M; Franklin, J; Cliver, SP
      A five-year experience with fragile X screening of high-risk gravid women

      AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
    88. KARGES W; LUDWIG L; KESSLER H; WISSMANN A; WAGNER PK; BOEHM BO
      MENIN MUTATIONS IN THE DIAGNOSIS AND PREDICTION OF MULTIPLE ENDOCRINENEOPLASIA TYPE-1

      LANGENBECKS ARCHIVES OF SURGERY
    89. Alper, JS; Beckwith, J
      Distinguishing genetic from nongenetic medical tests: Some implications for antidiscrimination legislation

      SCIENCE AND ENGINEERING ETHICS
    90. ANDERSEN PS; LARSEN LA; KANTERS JK; HAVNDRUPP O; BUNDGAARD H; BRANDT NJ; VUUST J; CHRISTIANSEN M
      MUTATION DETECTION BY CLEAVASE IN COMBINATION WITH CAPILLARY-ELECTROPHORESIS ANALYSIS - APPLICATION TO MUTATIONS CAUSING HYPERTROPHIC CARDIOMYOPATHY AND LONG-QT SYNDROME

      Molecular diagnosis
    91. CHIBAFALEK O; NISSIMRAFINIA M; ARGAMAN Z; GENEM A; MORAN I; KEREM E; KEREM B
      SCREENING OF CFTR MUTATIONS IN AN ISOLATED POPULATION - IDENTIFICATION OF CARRIERS AND PATIENTS

      European journal of human genetics
    92. CRAWFORD DHG; LEGGETT BA; POWELL LW
      HEMOCHROMATOSIS

      Bailliere's clinical gastroenterology
    93. ROBERTSON NH; WESTON SL; KELLY SJ; DUXBURY NJ; PEARCE SR; ELSMORE P; WEBB MBT; NEWTON CR; LITTLE S
      DEVELOPMENT AND VALIDATION OF A SCREENING-TEST FOR 12 COMMON MUTATIONS OF THE CYSTIC-FIBROSIS CFTR GENE

      The European respiratory journal
    94. HOEDEMAEKERS R; TENHAVE H
      GENETICIZATION - THE CYPRUS PARADIGM

      The Journal of medicine and philosophy
    95. RHODES R
      GENETIC LINKS, FAMILY TIES, AND SOCIAL BONDS - RIGHTS AND RESPONSIBILITIES IN THE FACE OF GENETIC KNOWLEDGE

      The Journal of medicine and philosophy
    96. ATKIN K; AHMAD WIU
      GENETIC SCREENING AND HEMOGLOBINOPATHIES - ETHICS, POLITICS AND PRACTICE

      Social science & medicine
    97. ISLAM MR; ARREOLA MPG; WONG P; TOMATSU S; CORONA JS; SLY WS
      BETA-GLUCURONIDASE P408S, P415L ALLELE IN A MEXICAN POPULATION - POPULATION SCREENING IN GUADALAJARA AND PRENATAL-DIAGNOSIS

      Prenatal diagnosis
    98. MILNER KK; COLLINS EE; CONNORS GR; PETTY EM
      ATTITUDES OF YOUNG-ADULTS TO PRENATAL SCREENING AND GENETIC CORRECTION FOR HUMAN ATTRIBUTES AND PSYCHIATRIC CONDITIONS

      American journal of medical genetics
    99. TYLER CV; KUNGL PA; GREEN LA
      GENETIC DIAGNOSIS IN ADULTHOOD - A CASE-REPORT

      Journal of family practice
    100. WILLNER JP
      REPRODUCTIVE GENETICS AND TODAYS PATIENT OPTIONS - PRENATAL-DIAGNOSIS

      The Mount Sinai journal of medicine


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Documento generato il 10/08/20 alle ore 00:28:48