Molecular Medicine

Molecular Medicine

Volumn , Issue , 2005, Pages

  Trent, R J ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85013708444     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-699057-7.X5000-0     Document Type: Book

References (303)

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29. Bryant-Greenwood P Molecular diagnostics in obstetrics and gynecology. Clinical Obstetrics and Gynecology 2002, 45:605-621. (although the title suggests that it is written for a particular discipline, it is in fact a very general and easy-to-read overview of technologies as well as the types of DNA mutations that can be identified).
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31. Cotton RGH, Scriver CR Proof of "disease causing" mutation. Human Mutation 1998, 12:1-3. (criteria are given on how to define a polymorphism, and when a change in DNA can be called a mutation).
32. Guttmacher AE, Collins FS Genomic medicine-a primer. New England Journal of Medicine 2003, 347:1512-1520. (provides an excellent overview of DNA, genetic disorders and mutations).
33. Burke W Genetic testing. New England Journal of Medicine 2002, 347:1867-1875. (basic and informative introduction to DNA testing).
34. Grody WW Molecular genetic risk screening. Annual Reviews Medicine 2003, 54:473-490. (provides a good overview of the types of DNA tests, focusing particularly on the screening group).
35. Higashi MK, et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. Journal of the American Medical Association 2002, 287:1690-1698. (an interesting example of how pharmacogenetic DNA testing might prove clinically useful).
36. Manolio T Novel risk markers and clinical practice. New England Journal of Medicine 2003, 349:1587-1589. (defines and shows how to measure sensitivity, specificity, etc).
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38. ACMG/ASHG Statement Laboratory Guidelines for Huntington Disease Genetic Testing. American Journal of Human Genetics 1998, 62:1243-1247. (Huntington's disease triplet repeat interpretation).
39. Almqvist EW, Elterman DS, MacLeod PM, Hayden MR High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clinical Genetics 2001, 60:198-205. (illustrates various clinical scenarios that become more meaningful with knowledge from DNA testing).
40. Fearnhead NS, Britton MP, Bodmer WF The ABC of APC. Human Molecular Genetics 2001, 10:721-733. (provides comprehensive overview of the molecular pathology of familial adenomatous polyposis).
41. Jarman PR, Wood NW Genetics of movement disorders and ataxia. Journal of Neurology, Neurosurgery and Psychiatry 2002, 73(Suppl II):ii22-ii26. (brief review of triplet expansions in a group of neurologic disorders characterised by gait disturbances).
42. Lynch HT, de la Chapelle A Hereditary colorectal cancer. New England Journal of Medicine 2003, 348:919-932. (useful overview of clinical and molecular changes in genetic forms of colorectal cancer).
43. Marian AJ, Roberts R The molecular genetic basis for hypertrophic cardiomyopathy. Journal of Molecular and Cellular Cardiology 2001, 33:655-670. (overview of molecular genetics).
44. Nabel EG Cardiovascular disease. New England Journal of Medicine 2003, 349:60-72. (one of the articles in the NEJM series on Genomic Medicine. Provides a summary of familial hypertrophic cardiomyopathy and a number of other cardiovascular conditions). See also Marian and Roberts above.
45. Ranum LPW, Day JW Dominantly inherited, non-coding microsatellite expansion disorders. Current Opinion in Genetics and Development 2002, 12:266-271. (provides an insight into three different mechanisms causing repeat expansion-related disease).
46. Sieber OM, et al. Multiple colorectal adenomas, classic adenomatous polyposis and germline mutations in MYH. New England Journal of Medicine 2003, 348:791-799. (description of the base excision DNA repair defect in colon cancer).
47. Yang VW APC as a checkpoint gene: the beginning or the end?. Gastroenterology 2002, 123:935-939. (editorial providing a nice overview of the APC gene structure and function).
48. http://www.angis.org.au/Databases/Heart.
49. (OMIM-Online Mendelian Inheritance in Man-an online catalogue that describes in great detail all examples of the triplet repeat diseases). http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM.
50. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T Penetrance of 845G→A (C282Y) hereditary haemochromatosis mutation in the USA. Lancet 2002, 359:211-218. (provides interesting data about the clinical significance of the C282Y mutation).
51. Brennan AL, Geddes DM Cystic fibrosis. Current Opinion in Infectious Diseases 2002, 15:175-182. (a good clinical and molecular overview of cystic fibrosis, with emphasis on infectious aspects).
52. Doull IJM Recent advances in cystic fibrosis. Archives of Diseases in Childhood 2001, 85:62-66. (provides a broad overview of clinical and molecular aspects of cystic fibrosis).
53. McKone EF, Emerson SS, Edwards KL, Aitken ML Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361:1671-1676. (useful facts about mutations and clinical issues in cystic fibrosis).
54. National Institutes of Health Consensus Development Conference Statement on Genetic Testing for Cystic Fibrosis Genetic Testing for Cystic Fibrosis. Archives of Internal Medicine 1999, 159:1529-1539. (provides a balanced perspective of population screening for cystic fibrosis).
55. Pietrangelo A Hereditary hemochromatosis-a new look at an old disease. New England Journal of Medicine 2004, 350:2383-2397. (concise overview of the genetic and clinical aspects of hereditary haemochromatosis including non-HFE genes).
56. Weatherall DJ Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Reviews Genetics 2001, 2:245-255. (provides a useful assessment of how knowledge of genes often opens up more questions about how the genes interact with the environment).
57. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM.
58. (address for the Cystic Fibrosis Mutation Database, which provides interesting data on mutations and other topics). http://www.genet.sickkids.on.ca/cftr/.
59. Bowen DJ Haemophilia A and haemophilia B: molecular insights. Molecular Pathology 2002, 55:1-18. (overview of the molecular basis for haemophilia including aspects of DNA testing).
60. http://archive.uwcm.ac.uk/uwcm/mg/hgmd0.html.
61. (mutation database for factors VIII and VII). http://europium.csc.mrc.ac.uk.
62. Marian AJ Modifier genes for hypertrophic cardiomyopathy. Current Opinion in Cardiology 2002, 17:242-252. (comprehensive discussion of modifier genes and their effects).
63. Peltomaki P Role of DNA mismatch repair defects in the pathogenesis of human cancer. Journal of Clinical Oncology 2003, 21:1174-1179. (discusses hereditary non polyposis colon cancer and sporadic colorectal cancer including the relationship between DNA repair and chemotherapy response).
64. http://www.acmg.net.
65. Botstein D, Risch N Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nature Genetics 2003, 33:228-237. (suppl), (provides a detailed look at the ways in which Mendelian disease-causing genes were discovered and the challenges ahead in attempting to discover genes for the complex genetic disorders).
66. Ewens WJ, Spielman RS Locating genes by linkage and association. Theoretical Population Biology 2001, 60:135-139. (provides a more mathematically based discussion of linkage and association studies).
67. Lewis CM Genetic association studies: design, analysis and interpretation. Briefings in Bioinformatics 2002, 3:146-153. (gives a nice, simple overview of an association study).
68. Cloninger CR The discovery of susceptibility genes for mental disorders. Proceedings of the National Academy of Sciences USA 2002, 99:13365-13367. (brief but useful summary of major advances in the molecular genetics of schizophrenia).
69. Gerber DJ, et al. Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit. Proceedings of the National Academy of Sciences USA 2003, 100:8993-8998. (original report for the most recent of the schizophrenia genes discovered).
70. Harrison PJ, Owen MJ Genes for schizophrenia? Recent findings and their pathophysiological implications. Lancet 2003, 361:417-419. (excellent review that critically analyses the likely significance of the various schizophrenia candidate genes).
71. Kelly MA, Rayner ML, Mijovic CH, Barnett AH Molecular aspects of type 1 diabetes. Molecular Pathology 2003, 56:1-10. (gives overview of molecular associations in IDDM).
72. Nussbaum RL, Ellis CE Alzheimer's disease and Parkinson's disease. New England Journal of Medicine 2003, 348:1356-1364. (useful molecular overview of these two important diseases).
73. Pedersen NS, Smith E Prion diseases: epidemiology in man. APMIS 2002, 110:14-22. (brief but useful review of the different prion diseases).
74. Wong AHC, van Tol HHM Schizophrenia: from phenomenology to neurobiology. Neuroscience and Biobehavioral Reviews 2003, 27:269-306. (an extensive overview of schizophrenia including clinical, molecular and treatment options).
75. Arantes-Oliveira N, Berman JR, Kenyon C Healthy animals with extreme longevity. Science 2003, 302:611. (brief overview of daf2 C. elegans mutants and longevity).
76. Finch CE, Ruvkun G The genetics of aging. Annual Reviews of Genomics and Human Genetics 2001, 2:435-462. (comprehensive review of ageing including the genetics and metabolic pathways involved).
77. Graff C, Bui T-H, Larsson N-G Mitochondrial diseases. Best Practice & Research Clinical Obstetrics and Gynaecology 2002, 16:715-728. (succinct review of mtDNA and its mutations).
78. Lee SS, Lee RYN, Fraser AG, Kamath RS, Ahringer J, Ruvkun G A systematic RNAi screen identifies a critical role for mitochondria in C. elegans longevity. Nature Genetics 2003, 33:40-48. (original article describing how RNAi was used to detect mtDNA mutants, which prolonged life).
79. Murphy CT, et al. Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegans. Nature 2003, 424:277-284. (easy-to-follow original report of how pathways and genes influencing life span can be discovered by microarrays).
80. Walter J, Paulsen M Imprinting and disease. Seminars in Cell & Developmental Biology 2003, 14:101-110. (excellent overview of imprinting).
81. Youssoufian H, Pyeritz RE Mechanisms and consequences of somatic mosaicism in humans. Nature Reviews Genetics 2002, 3:748-758. (succinct and readable review of what can be a difficult topic to understand).
82. http://www.mitomap.org/.
83. The web site for the Mammalian Genetics Unit in Harwell UK (provides information on impritning, including resources and references). http://www.mgu.har.mrc.ac.uk/imprinting/imprinting.html.
84. Baak JPA, Path FRC, Hermsen MAJA, Meijer G, Schmidt J, Janssen EAM Genomics and proteomics in cancer. European Journal of Cancer 2003, 39:1199-1215. (comprehensive review of genes and proteins in cancer).
85. Bodmer WF Cancer genetics. British Medical Bulletin 1994, 50:517-526. (early description of cancer as a genetic disease).
86. Coultas L, Strasser A The role of the Bcl-2 protein family in cancer. Seminars in Cancer Biology 2003, 13:115-123. (overview of bcl2 and apoptosis).
87. Herman JG, Baylin SB Gene silencing in cancer in association with promoter hypermethylation. New England Journal of Medicine 2003, 349:2042-2054. (nice review on DNA methylation and its potential effects in cancer).
88. Ponder BAJ Cancer genetics. Nature 2001, 411:336-341. (provides overview of genetic and non-genetic contributions to tumour development).
89. Schultz DR, Harrington WJ Apoptosis: programmed cell death at a molecular level. Seminars in Arthritis and Rheumatism 2003, 32:345-369. (useful review of apoptosis).
90. Suter CM, Martin DIK, Ward RL Germline epimutation of MLH1 in individuals with multiple cancers. Nature Genetics 2004, 36:497-501. (interesting study showing how epimutations can produce cancer).
91. Vermeulen K, Berneman ZN, Van Bockstaele DR Cell cycle and apoptosis. Cell Proliferation 2003, 36:165-175. (excellent overview of overlapping proteins and pathways that control the cell cycle and apoptosis).
92. Wooster R, Weber BL Breast and ovarian cancer. New England Journal of Medicine 2003, 348:2339-2347. (excellent up-to-date review of this subject).
93. http://www.cancer.gov/cancerinfo/pdq/genetics/breast.
94. (The OMIM site. Type 168000 in search OMIM for .. and this will provide information on carotid body tumours and inheritance). http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM.
95. Campana D Determination of minimal residual disease in leukaemia patients. British Journal of Haematology 2003, 121:823-838. (overview of this topic particularly in the acute leukaemias).
96. Goldman JM, Melo JV Chronic myeloid leukemia-advances in biology and new approaches to treatment. New England Journal of Medicine 2003, 349:1451-1464. (comprehensive summary of chronic myeloid leukaemia).
97. Gribben JG Monitoring disease in lymphoma and CLL patients using molecular techniques. Best Practice & Research Clinical Haematology 2002, 15:179-195. (easy-to-read overview of the B lymphoproliferative diseases).
98. Mistry AR, Pedersen EW, Solomon E, Grimwade D The molecular pathogenesis of acute promyelocytic leukaemia: implications for the clinical management of disease. Blood Reviews 2003, 17:71-97. (detailed summary of APML).
99. Blasco MA Telomeres and cancer: a tale of many endings. Current Opinion in Genetics and Development 2003, 13:70-76. (a succinct and informative summary of telomeres and their possible role in cancer).
100. Cummings DE, Schwartz MW Genetics and pathophysiology of human obesity. Annual Reviews of Medicine 2003, 54:453-471. (provides a nice overview of obesity with the various molecular abnormalities well described).
101. Hugh-Davies L, et al. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell 2003, 115:523-535. (original research report providing preliminary evidence linking BRCA2 to sporadic forms of breast and ovarian cancer).
102. Janz S, Potter M, Rabkin CS Lymphoma and leukaemia associated chromosomal translocations in healthy individuals. Genes, Chromosomes and Cancer 2003, 36:211-223. (provides interesting insights into what can be found in apparently normal subjects with PCR).
103. Kauffman EC, Robinson VL, Stadler WM, Sokoloff MH, Rinker-Schaeffer CW Metastasis suppression: the evolving role of metastasis suppressor genes for regulating cancer cell growth at the secondary site. The Journal of Urology 2003, 169:1122-1133. (provides a useful insight into how metastases spread and grow).
104. Sekido Y, Fong KM, Minna JD Molecular genetics of lung cancer. Annual Reviews of Medicine 2003, 54:73-87. (lists all the molecular changes that have been described in lung cancer).
105. Snyder EE, et al. The human obesity gene map: the 2003 update. Obesity Research 2004, 12:369-439. (interesting article summarising all the reports that describe a gene or locus involved in obesity).
106. Campbell AM, Heyer LJ Discovering genomics, proteomics and bioinformatics 2003, (useful introductory textbook)., Cold Spring Harbor Laboratory Press, Oxford.
107. Guttmacher AE, Collins FS Genomic medicine-a primer. New England Journal of Medicine 2002, 347:1512-1520. (overview of genomics in medicine, including many examples and a glossary).
108. Aitman TJ DNA microarrays in medical practice. British Medical Journal 2001, 323:611-615. (overview of microarrays in relation to medicine with nice illustrations).
109. Chasman DI, Posada D, Subrahmanyan L, Cook NR, Stanton VP, Ridker PM Pharmacogenetic study of statin therapy and cholesterol reduction. Journal of the American Medical Association 2004, 291:2821-2827. (well-written and informative study how pharmacogenetics can identify patient subgroups responding suboptimally to treatment with statins for cholesterol lowering).
110. Costa LG, Cole TB, Jarvik GP, Furlong CE Functional genomics of the paraoxonase (PON1) polymorphisms: effects on pesticide sensitivity, cardiovascular disease, and drug metabolism. Annual Reviews of Medicine 2003, 54:371-392. (various functions of paraoxonase and the associated molecular variants).
111. Cox RD, Brown SDM Rodent models of genetic disease. Current Opinion in Genetics & Development 2003, 13:278-283. (summary of the various rat and mouse models used in modern genomics research).
112. Evans WE, McLeod HL Pharmacogenomics-drug disposition, drug targets and side effects. New England Journal of Medicine 2003, 348:538-549. (overview of the various factors involved in drug metabolism).
113. Hashimoto M, Rockenstein E, Masliah E Transgenic models of α synuclein pathology: past, present and future. Annals New York Academy of Sciences 2003, 991:171-188. (description of transgenic mice models for Parkinson's disease).
114. Holleman A, et al. Gene expression patterns in drug resistant acute lymphoblastic leukemia cells and response to treatment. New England Journal of Medicine 2004, 351:535-542. (shows potential value of microarray analysis of tumour cells).
115. Langheinrich U Zebrafish: a new model on the pharmaceutical catwalk. BioEssays 2003, 25:904-912. (shows the contribution of the zebrafish to knowledge of human development and behaviour).
116. Lazarou J, Pomeranz BH, Corey PN Incidence of adverse drug reactions in hospitalised patients: a meta-analysis of prospective studies. Journal of the American Medical Association 1998, 279:1200-1205. (provides estimates of drug side effects in hospitalized patients).
117. Lindpainter K Pharmacogenetics and the future of medical practice. Journal of Molecular Medicine 2003, 81:141-153. (overview of pharmacogenetics particularly in the pharmaceutical industry).
118. Marshall E Preventing toxicity with a gene test. Science 2003, 302:588-590. (summarises the events around the FDA's decision not to make TPMT DNA testing compulsory).
119. Maughan NJ, Lewis FA, Smith V An introduction to arrays. Journal of Pathology 2001, 195:3-6. (brief but useful introduction to microarrays. This issue of the Journal of Pathology is directed to microarrays-well worth reading).
120. Meisel C, et al. Implications of pharmacogenetics for individualizing drug treatment and for study design. Journal of Molecular Medicine 2003, 81:154-167. (considers basic pharmacologic principles behind drug metabolism as well as the genetic effects).
121. Paul NW, Roses AD Pharmacogenetics and pharmacogenomics: recent developments, their clinical relevance and some ethical, social and legal implications. Journal of Molecular Medicine 2003, 81:135-140. (distinguishes pharmacogenetics and pharmacogenomics).
122. Van de Vijver MJ, et al. A gene expression signature as a predictor of survival in breast cancer. New England Journal of Medicine 2002, 347:1999-2009. (a key paper describing the application of an expression microarray in breast cancer management).
123. Weinshilboum R Inheritance and drug response. New England Journal of Medicine 2003, 348:529-537. (useful overview of CYP genes).
124. Wood AJJ Racial differences in the response to drugs-pointers to genetic differences. New England Journal of Medicine 2001, 344:1292-1396. (editorial illustrating the molecular mechanism for racial susceptibility to drugs).
125. Check E Running before we can walk?. Nature 2004, 429:496-497. (a response to the Petricoin and Liotta paper on proteomics and ovarian cancer).
126. Davidov EJ, Holland JM, Marple EW, Naylor S Advancing drug discovery through systems biology. Drug Discovery Today 2003, 8:175-183. (describes the integrated .. omics approach now being used in drug development).
127. Patterson SD, Aebersold RH Proteomics: the first decade and beyond. Nature Genetics 2003, 33:311-323. (suppl), (detailed but comprehensive overview of how proteomics has developed and where it is going).
128. Petricoin EF, Liotta LA Clinical applications of proteomics. Journal of Nutrition 2003, 133:2476S-2484S. (the focus here is how proteomics, including new developments, will be used in oncology).
129. Walgren JL, Thompson DC Application of proteomic technologies in the drug development process. Toxicology Letters 2004, 149:377-385. (gives an overview of proteomics strategies in drug development).
130. Yanagisawa K, et al. Proteomic patterns of tumour subsets in non small cell lung cancer. Lancet 2003, 362:433-439. (example of how proteomic profiles are likely to become valuable adjuncts in cancer management).
131. Al-Shahi R, Sadler M, Rees G, Bateman D The internet. Journal of Neurology, Neurosurgery and Psychiatry 2002, 73:619-628. (succinct overview of the Internet's development).
132. Bayat A Bioinformatics. British Medical Journal 2002, 324:1018-1022. (readable overview directed to medical applications).
133. Botstein D, Risch N Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nature Genetics 2003, 33:228-237. (suppl), (very sophisticated review explaining where gene discovery has been and where it is going with the use of SNPs, DNA databases and bioinformatics).
134. Emery J, et al. Computer support for interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases. British Medical Journal 2000, 321:28-32. (relatively simple but illlustrative example of how computer-based information helps with clinical decision-making).
135. Kane B, Sands DZ Guidelines for the clinical use of electronic mail with patients. Journal of the American Medical Informatics Association 1998, 5:104-111. (provides guidelines for email exchanges between health professionals and patients).
136. Kanehisa M, Bork P Bioinformatics in the post-sequence era. Nature Genetics 2003, 33:305-310. (suppl), (provides historical overview of bioinformatics development).
137. Internet based resources are summarised in Table 5.6, 5.7.
138. (web address for the EU's initiative to building computing infrastructure for the future). http://eudatagrid.web.cern.ch/eu.
139. Emilien G, Ponchon M, Caldas C, Isacson O, Maloteaux J-M Impact of genomics on drug discovery and clinical medicine. Quarterly Journal of Medicine 2000, 93:391-423. (nice review of molecular medicine in the genomics era).
140. Ratner M, Ratner D Nanotechnology. A gentle introduction to the next big idea 2003, (provides an exciting glimpse into the future)., Prentice Hall, San Francisco.
141. Robertson JA, Brody B, Buchanan A, Kahn J, McPherson E Pharmacogenetic challenges for the health care system. Health Affairs 2002, 21:155-167. (attempts to forecast the effect of pharmacogenetics on industry, regulation, medical practice and the patients).
142. Zambrowicz BP, Sands AT Knockouts model the 100 best-selling drugs-will they model the next 100?. Nature Reviews Drug Discovery 2003, 2:38-51. (an interesting paper summarising the best sellers (in drugs) and the role played by transgenics in their development).
143. http://www.royalsoc.ac.uk/document.asp?id=2023.
144. Hedenus M, et al. Randomized, dose finding study of darbepoetin alfa in anaemic patients with lymphoproliferative malignancies. British Journal of Haematology 2002, 119:79-86. (provides preliminary data on the EPO derivative in clinical trials).
145. Keating CG, Noble S Recombinant hepatitis B vaccine (Engerix B®). Drugs 2003, 63:1021-1051. (provides a useful overview of one particular rhHBV vaccine but also general information).
146. McClamrock HD Recombinant gonadotropins. Clinical Obstetrics and Gynecology 2003, 46:298-316. (comprehensive summary of recombinant DNA-derived products for this hormone family).
147. Samol J, Littlewood TJ The efficacy of rHuEPO in cancer related anaemia. British Journal of Haematology 2003, 121:3-11. (succinct overview of rhEPO in various haematologic malignancies).
148. Sylvester RK Clinical applications of colony stimulating factors: a historical perspective. American Journal of Health-System Pharmacy 2002, 59(suppl 2):S6-S12. (provides a pharmacist's perspective of the haematopoietic growth factors and their impact).
149. (this is the web address for the American Society of Hematology education section. Provides concise reviews on many topics, including haemophilia by PM Manucci. Unfortunately, stops at year 2002). http://www.asheducationbook.org/.
150. Aguilar LK, Aguilar-Cordova E Evolution of a gene therapy clinical trial: from bench to bedside and back. Journal of Neuro-Oncology 2003, 65:307-315. (nice overview of the steps involved in developing a clinical study in human gene therapy).
151. Balicki D, Beutler E Gene therapy of human disease. Medicine 2002, 81:69-86. (useful overview of gene therapy particularly from the description of transfection methods and a summary of some gene therapy trials).
152. Donnelly J, Berry K, Ulmer JB Technical and regulatory hurdles for DNA vaccines. International Journal for Parasitology 2003, 33:457-467. (excellent discussion of DNA vaccines).
153. Dooldeniya MD, Warrens AN Xenotransplantation: where are we today?. Journal of the Royal Society of Medicine 2003, 96:111-117. (concise overview of the xenotransplantation situation particularly in relation to rejection and risk).
154. Hacein-Bey-Abina S, et al. Sustained correction of X linked severe combined immunodeficiency by ex vivo gene therapy. New England Journal of Medicine 2002, 346:1185-1193. (the first report of a gene therapy success in SCID).
155. Hacein-Bey-Abina S, et al. LMO2 associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 2003, 302:415-419. (a summary of the insertional mutagenesis event leading to acute leukaemia after gene therapy).
156. Hassink RJ, et al. Stem cell therapy for ischemic heart disease. Trends in Molecular Medicine 2003, 9:436-441. (brief, succinct overview of stem cells for the treatment of heart disease).
157. Knowles LP A regulatory patchwork-human ES cell research oversight. Nature Biotechnology 2004, 22:157-163. (an informative overview of the various countries and the stances taken about human ES cell research).
158. Korbling M, Estrov Z Adult stem cells for tissue repair-a new therapeutic concept?. New England Journal of Medicine 2003, 349:570-582. (excellent overview of adult stem cells).
159. McCormack MP, Rabbitts TH Activation of the T cell oncogene LMO2 after gene therapy for X linked severe combined immunodeficiency. New England Journal of Medicine 2004, 350:913-922. (an in-depth discussion of leukaemia developed in the 2 SCID-X1 children treated with gene therapy).
160. Manno CS The promise of third generation recombinant therapy and gene therapy. Seminars in Hematology 2003, 40:23-28. suppl 3, (provides a summary of both gene therapy and the most recent recombinant factor VIII products in haemophilia).
161. Prentice DA Stem cells and cloning 2003, (small monograph but excellent overview of stem cells and cloning)., Benjamin Cummings, New Jersey.
162. Puthenveetil G, et al. Successful correction of the human β thalassemia major phenotype using a lentiviral vector. Blood 2004, 104:3445-3453. (summarises a promising early success for gene therapy in thalassaemia).
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164. Urban E, Noe CR Structural modifications of antisense oligonucleotides. Il Farmaco 2003, 58:243-258. (provides both a simple and a more complex overview of oligonucleotides including the two applications described in the text).
165. Weissman IL Stem cells-scientific, medical and political issues. New England Journal of Medicine 2002, 346:1576-1579. (provocative presentation of some issues).
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183. Marshall Graves JA The rise and fall of SRY. Trends in Genetics 2002, 18:259-264. (nice review illustrating how the Y chromosome and its genes have evolved and where it might be going).
184. Wilson M, Koopman P Matching SOX: partner proteins and cofactors of the SOX family of transcriptional regulators. Current Opinion in Genetics and Development 2002, 12:441-446. (gives overview of SOX genes).
185. Braude P, Pickering S, Flinter F, Ogilvie CM Preimplantation genetic diagnosis. Nature Reviews Genetics 2002, 3:941-953. (comprehensive scientific, medical and social overview of this subject).
186. Bui T-H, Blennow E, Nordenskjold M Prenatal diagnosis: molecular genetics and cytogenetics. Best Practice and Research Clinical Obstetrics and Gynaecology 2002, 16:629-643. (particularly good overview of FISH).
187. d'Ercole C, et al. Prenatal screening: invasive diagnostic approaches. Child's Nervous System 2003, 19:444-447. (brief but excellent summary of the three approaches used for prenatal testing).
188. Flinter FA Preimplantation genetic diagnosis. British Medical Journal 2001, 322:1008-1009. (brief but useful summary of the UK situation with PGD).
189. Gerber S, Hohlfeld P Screening for infectious diseases. Child's Nervous System 2003, 19:429-432. (useful summary of important intrauterine infections including approaches in detection).
190. Wapner R, et al. First trimester screening for trisomies 21 and 18. New England Journal of Medicine 2003, 349:1405-1413. (multicentre study assessing first versus second trimester maternal screening).
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193. Flake AW Genetic therapies for the fetus. Clinical Obstetrics and Gynecology 2002, 45:684-696. (reviews some options in fetal therapy).
194. Chan AKC, Chiu RWK, Lo YMD Cell free nucleic acids in plasma, serum and urine: a new tool in molecular diagnosis. Annals Clinical Biochemistry 2003, 40:122-130. (review from one of the leaders in this area and describes the value of free DNA in the blood in pregnancy and other situations).
195. Hedrick HL, et al. History of fetal diagnosis and therapy: Children's Hospital of Philadelphia experience. Fetal Diagnosis and Therapy 2003, 18:65-82. (a summary of fetal therapy carried out in this hospital provides some insight into what is achievable surgically in the fetus).
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199. Allain J-P Genomic screening for blood-borne viruses in transfusion settings. Clinical Laboratory Haematology 2000, 22:1-10. (comprehensive overview of NAT technology as well as effects it has had on HIV, HCV and HBV).
200. Clavel F, Hance AJ HIV drug resistance. New England Journal of Medicine 2004, 350:1023-1035. (comprehensive review of this topic).
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207. Strohl WA, Rouse H, Fisher BD Lippincott's Illustrated Reviews: Microbiology 2001, (well-presented overview of many topics in infectious disease)., Lippincott Williams & Wilkins, San Francisco. R.A. Harvey, P.A. Champe (Eds.).
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211. Carrington M, O'Brien SJ The influence of HLA genotype on AIDS. Annual Review of Medicine 2003, 54:535-551. (summary of various HLA associations with infections).
212. Chinen J, Shearer WT Molecular virology and immunology of HIV infection. Journal of Allergy and Clinical Immunology 2002, 110:189-198. (provides relevant overview of HIV and AIDS).
213. de Viedma DG Rapid detection of resistance to Mycobacterium tuberculosis: a review discussing molecular approaches Clinical Microbiology and Infection 2003, 9:349-359. (useful summary of resistance genes with a comprehensive overview of the molecular diagnostics technologies).
214. Ganem D, Prince AM Hepatitis B virus infection-natural history and clinical consequences. New England Journal of Medicine 2004, 350:1118-1129. (useful review of the hepatitis B virus).
215. Lage H ABC transporters: implications on drug resistance from microorganisms to human cancers. International Journal of Antimicrobial Agents 2003, 22:188-199. (reviews the multidrug transporters).
216. Le Bras J, Durand R The mechanisms of resistance to antimalarial drugs in Plasmodium falciparum. Fundamental & Clinical Pharmacology 2003, 17:147-153. (comprehensive report on molecular basis for drug resistance).
217. Lin J-C, et al. Quantification of plasma Epstein Barr virus DNA in patients with advanced nasopharyngeal carcinoma. New England Journal of Medicine 2004, 350:2461-2470. (shows how DNA quantification can help to plan treatment for this tumour).
218. Low DE The era of antimicrobial resistance-implications for the clinical laboratory. Clinical Microbiology and Infection 2002, 8(suppl 3):9-20. (describes antibiotic resistance in Streptococcus pneumoniae).
219. Mansky LM HIV mutagenesis and the evolution of antiretroviral drug resistance. Drug Resistance Updates 2002, 5:219-223. (summarises how drug resistance evolves in HIV).
220. Miller LH, Baruch DI, Marsh K, Doumbo OK The pathogenic basis of malaria. Nature 2002, 415:673-679. (useful review).
221. Moss SF, Sood S Helicobacter pylori. Current Opinion in Infectious Diseases 2003, 16:445-451. (well-presented overview of this pathogen).
222. Munoz N, et al. Epidemiologic classification of human papillomavirus types associated with cervical cancer. New England Journal of Medicine 2003, 348:518-527. (lists the various HPV types and their risk for cervical cancer).
223. Nizet V Streptococcal β hemolysins: genetics and role in disease pathogenesis. Trends in Microbiology 2002, 10:575-580. (comprehensive description of genes involved in the β haemolysin effect).
224. O'Brien SJ, Nelson GW Human genes that limit AIDS. Nature Genetics 2004, 36:565-574. (succinct summary of genetic variants and their possible effects on HIV infection).
225. Segal S, Hill AVS Genetic susceptibility to infectious disease. Trends in Microbiology 2003, 11:445-448. (succinct overview of the association and linkage study to identify genetic susceptibility factors in infectious diseases).
226. Young LS, Murray PG Epstein Barr virus and oncogenesis: from latent genes to tumours. Oncogene 2003, 22:5108-5121. (useful summary of EBV and pathogenesis of cancer).
227. Waggoner SE Cervical cancer. Lancet 2003, 361:2217-2225. (summary of cervical cancer from epidemiology to treatment).
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229. Hien TT, de Jong M, Farrar J Avian influenza-a challenge to global health care structures. New England Journal of Medicine 2004, 351:2363-2365. (brief summary; for regular updates see the CDC web site: http://www.cdc.gov/flu/avian/index.htm).
230. Hiramatsu K, Cui L, Kuroda M, Ito T The emergence and evolution of methicillin resistant Staphylococcus aureus. Trends in Microbiology 2001, 9:486-493. (comprehensive description of the genetic factors for MRSA).
231. Krzywinski J, Besansky NJ Molecular systematics of Anopheles: from subgenera to subpopulations. Annual Review of Entomology 2003, 48:111-139. (comprehensive review of taxonomy for this important mosquito).
232. Lorentz MC Genomic approaches to fungal pathogenicity. Current Opinion in Microbiology 2002, 5:372-378. (describes genomic approaches to studying fungi).
233. Merlani GM, Francioli P Established and emerging waterborne nosocomial infections. Current Opinion in Infectious Diseases 2003, 16:343-347. (interesting summary of nosocomial infections associated with drinking water).
234. McManus D, et al. Molecular genetic characterization of an unusually severe case of hydatid disease in Alaska caused by the cervid strain of Echinococcus granulosus. American Journal of Tropical Medicine and Hygiene 2002, 67:296-298. (brief report on how DNA typing can be used to understand disease heterogeneity).
235. Nicholson KG, Wood JM, Zambon M Influenza. Lancet 2003, 362:1733-1745. (comprehensive overview of influenza).
236. Roig J, Sabria M, Pedro-Botet ML Legionella spp.: community acquired and nosocomial infections. Current Opinion in Infectious Diseases 2003, 16:145-151. (useful summary of Legionella).
237. Webby RJ, Webster RG Are we ready for pandemic influenza?. Science 2003, 302:1519-1522. (specifically looks at relevant issues and pandemics).
238. Drosten C, Kummerer BM, Schmitz H, Gunther S Molecular diagnostics of viral hemorrhagic fevers. Antiviral Research 2003, 57:61-87. (overview of the type of PCR tests that might be used for viral hemorrhagic fevers).
239. Griffith KS, et al. Bioterrorism-related inhalational anthrax in an elderly woman, Connecticut, 2001. Emerging Infectious Diseases 2003, 9:681-688. (provides some insight into the investigative approaches that would be required in the case of bioterror).
240. Irani DN, Johnson RT Diagnosis and prevention of bovine spongiform encephalopathy and variant Creutzfeldt Jakob disease. Annual Review Medicine 2003, 54:305-319. (comprehensive review of CJD).
241. Lim PL, et al. Laboratory acquired severe acute respiratory syndrome. New England Journal of Medicine 2004, 350:1740-1745. (brief account of how a case of SARS resulted from a laboratory source of infection).
242. Ludwig B, Kraus FB, Allwinn R, Doerr HW, Preiser W Viral zoonoses-a threat under control?. Intervirology 2003, 46:71-78. (excellent summary of zoonoses well worth reading).
243. Makino S, Cheun H Application of the real time PCR for the detection of airborne microbial pathogens in reference to the anthrax spores. Journal of Microbiological Methods 2003, 53:141-147. (illustrates how real-time PCR could be used for rapid DNA detection of pathogens).
244. Pealer LN, et al. Transmission of West Nile virus through blood transfusion in the United States in 2002. New England Journal of Medicine 2003, 349:1236-1245. (interesting discussion on the implications of WNV and blood transfusion).
245. Peiris JSM, Yuen KY, Osterhaus ADME, Stohr K The severe acute respiratory syndrome. New England Journal of Medicine 2003, 349:2431-3441. (excellent overview of the SARS story).
246. Petersen LR, Marfin AA, Gubler DJ West Nile Virus. JAMA 2003, 290:524-528. (comprehensive clinical, epidemiologic and historic overview of WNV).
247. Reed KD, et al. The detection of monkeypox in humans in the western hemisphere. New England Journal of Medicine 2004, 350:342-350. (useful overview of how this infection was quickly identified in the USA).
248. Roy CJ, Milton DK Airborne transmission of communicable infection-the elusive pathway. New England Journal of Medicine 2004, 350:1710-1712. (brief editorial on SARS and a possible mode for its spread).
249. Lin B, Vahey MT, Thach D, Stenger DA, Pancrazio JJ Biological threat detection via host gene expression profiling. Clinical Chemistry 2003, 49:1045-1049. (interesting proposal using host rather than pathogen microarray gene profile for rapid detection of infection).
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254. Carey L, Mitnik L Trends in DNA forensic analysis. Electrophoresis 2002, 23:1386-1397. (comprehensive and well-written summary of various technologies and polymorphisms used in forensics).
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256. Lunetta P, Levo A, Mannikko A, Penttila A, Sajantila A Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation. Forensic Science International 2002, 130:122-124. (forensic case showing value of DNA testing even postmortem).
257. Weir BS DNA statistics in the Simpson matter. Nature Genetics 1995, 11:365-368. (interesting scientific overview of this well-known trial).
258. Internet address for EINSHAC-Einstein Institute for Science, Health and the Courts (EINSHAC is a US-based organisation with a mission to make science accessible to the instruments of justice). http://www.einshac.org/.
259. Wenk RE, Chiafari FA, Gorlin J, Polesky HF Better tools are needed for parentage and kinship studies. Transfusion 2003, 43:979-981. (brief but succinct summary of family relationship testing with DNA fingerprints).
260. Carmody G Identification of victims using DNA from relatives: the Canadian experience. XIX International Congress of Genetics 2003, 55. 2003, Abstract 6H.
261. Gilmore S, Peakall R, Robertson J Short tandem repeat (STR) DNA markers are hypervariable and informative in Cannabis sativa: implications for forensic investigations. Forensic Science International 2003, 131:65-74. (an interesting but unusual application for DNA fingerprinting).
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263. Costa LG, Cole TB, Jarvik GP, Furlong CE Functional genomics of the paraoxonase (PON1) polymorphisms: effects on pesticide sensitivity, cardiovascular disease, and drug metabolism. Annual Reviews of Medicine 2003, 54:371-392. (summarises the various functions of paraoxonase and the associated molecular variants).
264. Fraser CM A genomics-based approach to biodefence preparedness. Nature Reviews Genetics 2004, 5:23-33. (an excellent summary of how genomics will provide critical information about infectious agents used in bioterror).
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266. Stenger DA, Andreadis JD, Vora GJ, Pancrazio JJ Potential applications of DNA microarrays in biodefense-related diagnostics. Current Opinion in Biotechnology 2002, 13:208-212. (looks at future technology that could prove valuable in microbial forensics).
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271. Smith L, Byers JF Gene therapy in the post-Gelsinger era. JONA'S Healthcare Law, Ethics and Regulation 2002, 4:104-110. (provides an overview of this death and the contributing ethical issues).
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277. Evans JP, Skrzynia C, Burke W The complexities of predictive genetic testing. British Medical Journal 2001, 322:1052-1056. (provides a good overview of predictive genetic testing and its potential ethical issues).
278. Gottlieb S US employer agrees to stop genetic testing. British Medical Journal 2001, 322:449. (news report of the Santa Fe railway company and DNA testing for carpal tunnel syndrome-see also the reference to Burke et al below).
279. Haga SB, Khoury MJ, Burke W Genomic profiling to promote a healthy lifestyle: not ready for prime time. Nature Genetics 2003, 34:347-350. (illustrates negative aspects of personalised medicine provided through commercial DNA testing laboratories).
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281. Lloyd FJ, Reyna VF, Whalen P Accuracy and ambiguity in counselling patients about genetic risks. Archives Internal Medicine 2001, 161:2411-2413. (looks at some of the complexities associated with genetic counselling).
282. Michie S, Bobrow M, Marteau TM Predictive genetic testing in children and adults: a study of emotional impact. Journal of Medical Genetics 2001, 38:519-526. (this study seems to agree with other work which suggests that children may not respond so negatively to predictive DNA testing).
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284. Williams-Jones B Where there's a web, there's a way: commercial genetic testing and the Internet. Community Genetics 2003, 6:46-57. (provides examples of direct company-to-patient DNA testing for adult-onset disorders).
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286. Cho MK, Illangasekare S, Weaver MA, Leonard DGB, Merz JF Effects of patents and licences on the provision of clinical genetic testing services. Journal of Molecular Diagnostics 2003, 5:3-8. (reports on a survey to determine the effects of patents on the provision of clinical genetics and DNA testing services).
287. Gold ER SARS genome patent: symptom or disease?. Lancet 2003, 361:2002-2003. (informative summary of why the CDC patented the SARS genome to ensure this information would be preserved for public good).
288. Kaye J, Martin P Safeguards for research using large scale DNA collections. British Medical Journal 2000, 321:1146-1149. (a brief summary of the Icelandic and proposed UK large-scale DNA collections for genetic research).
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293. http://www.decode.com/.
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295. (Roche company web site summarising its ongoing dispute with Promega involving the PCR patent-worth reading). http://www.rochediagnostics.com/ba_rmd/pcr_litigation_chronology.html.
296. Jaenisch R, Wilmut I Developmental biology: Don't clone humans!. Science 2001, 291:2252. (succinct and well-founded scientific reasons are given why reproductive cloning in humans would be dangerous).
297. Kaji EH, Leiden JM Gene and stem cell therapies. The Journal of the American Medical Association 2001, 285:545-550. (a brief overview of the gene and stem cell area including perceived ethical issues that might arise).
298. Orive G, Hernandez RM, Gascon AR, Igartua M, Pedraz JL Controversies over stem cell research. Trends in Biotechnology 2003, 21:109-112. (summarises the difficult political and regulatory issues interacting with ethical discussions on stem cells).
299. Spink J, Geddes D Gene therapy progress and prospects: bringing gene therapy into medical practice: the evolution of international ethics and the regulatory environment. Gene Therapy 2004, 11:1611-1616. (provides an overview of different national ethical and regulatory issues in gene therapies).
300. http://www.4.od.nih.gov/oba/rac/guidelines/guidelines.html.
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302. Burke W, Pinsky LE, Press NA Categorizing genetic tests to identify their ethical, legal and social implications. American Journal of Medical Genetics 2001, 106:233-240. (illustrates how criteria can be developed to determine the value of a DNA test).
303. Caulfield TA From human genes to stem cells: new challenges for patent law?. Trends in Biotechnology 2003, 21:101-103. (views are expressed about the patenting of stem cells and how this might alienate public opinion).