Clinical epidemiological quality in molecular genetic research: The need for methodological standards

JAMA

Volumn 281, Issue 20, 1999, Pages 1919-1926

  Bogardus, Sidney T ^a   Concato, John ^a,b   Feinstein, Alvan R ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DATA ANALYSIS; HEALTH CARE QUALITY; HUMAN; MEDICAL LITERATURE; MEDICAL RESEARCH; MOLECULAR GENETICS; PRIORITY JOURNAL; PUBLICATION;

EID: 0344327133     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.281.20.1919     Document Type: Article

References (143)

1. Jamieson A. Dissecting hypertension: the role of the "new genetics." J R Coll Physicians Lord. 1994; 28:512-518.
2. Mattu RK, Needham EW, Galton DJ, Frangos E, Clark AJ, Caulfield M. A DNA variant at the angiotensin-converting enzyme locus associates with coronary artery disease in the Caerphilly Heart Study. Circulation. 1995;91:270-274.
3. Gallagher PM, Meleady R, Shields DC, et al. Homocysteine and risk of premature coronary heart disease: evidence for a common gene mutation. Circulation. 1996;94:2154-2158.
4. Jukema JW, Van Boven AJ, Groenemeijer B, et al. The Asp9Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis. Circulation. 1996;94:1913-1918.
5. Yu Q, Safavi F, Roberts R, Marian AJ. A variant of beta fibrinogen is a genetic risk factor for coronary artery disease and myocardial infarction. J Investig Med. 1996;44:154-159.
6. Stengard JH, Zerba KE, Pekkanen J, Ehnholm C, Nissinen A, Sing CF. Apolipoprotein E polymorphism predicts death from coronary heart disease in a longitudinal study of elderly Finnish men. Circulation. 1995;91:265-269.
7. Owerback D, Gabbay KH. The search for IDDM susceptibility genes: the next generation. Diabetes. 1996;45:544-551.
8. Cloninger CR. Turning point in the design of linkage studies of schizophrenia. Am J Med Genet 1994; 54:83-92.
9. US Department of Energy. Human Genome 1991-92 Program Report, Foreword. Washington, DC: US Dept of Energy, Office of Environmental Research; 1992:111.
10. Guyer MS, Collins FS. How is the Human Genome Project doing, and what have we learned so far? Proc Natl Acad Sci U S A. 1995;92:10841-10848.
11. Collins FS. Ahead of schedule and under budget: the Genome Project passes its fifth birthday. Proc Natl Acad Sci USA. 1995;92:10821-10823.
12. Hubbard R, Lewontin RC. Pitfalls of genetic testing. N Engl J Med. 1996;334:1192-1194.
13. Hudson KL, Rothenberg KH, Andrews LB, Kahn M, Collins FS. Genetic discrimination and health insurance: an urgent need for reform. Science. 1995; 270:391-393.
14. Preston J. Trenton votes to put strict limits on use of gene tests by insurers. The New York Times. June 18, 1996:A1.
15. Muller-Hill B. The shadow of genetic injustice. Nature. 1993;362:491-492.
16. McLean SA. Mapping the human genome -friend or foe? Soc Sci Med 1994;39:1221-1227.
17. Genome research risks abuse, panel warns. Nature. 1995;378:529.
18. Hodgkinson N. The master race. Sunday Times (London). January 2, 1994.
19. Sack C. Tropic of cancer. The New Republic. June 2, 1997:46.
20. Holtzman NA, Watson MS, eds. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Bethesda, Md: National Human Genome Research Institute/National Institutes of Health; 1997.
21. Bohn M, Berge KE, Bakken A, Erikssen J, Berg K. Insertion/deletion (I/D) polymorphism at the locus for the angiotensin 1-converting enzyme and myocardial infarction. Clin Genet 1993;44:292-297.
22. Lindpaintner K, Pfeffer MA, Kreutz R, et al. Angiotensin converting enzyme (ACE) genotype and risk of myocardial infarction (MI) [abstract]. Clin Res. 1993; 41:216.
23. Miettinen HE, Korpela K, Hamalainen L, Kontula K. Polymorphisms of the apolipoprotein and angiotensin converting enzyme genes in young North Karelian patients with coronary artery disease. Hum Genet 1994;94:189-192.
24. Lindpaintner K, Pfeffer MA, Kreutz R, et al. A prospective evaluation of an angiotensin-converting enzyme gene polymorphism and the risk of ischemic heart disease. N Engl J Med. 1995;332:706-711.
25. Katsuya T, Koike G, Yee TW, et al. Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease. Lancet 1995; 345:1600-1603.
26. Winkelmann BR, Nauck M, Klein B, et al. Deletion polymorphism of the angiotensin I-converting enzyme gene is associated with increased plasma angiotensin-converting enzyme activity but not with increased risk for myocardial infarction and coronary artery disease. Ann Intern Med. 1996;125:19-25.
27. Cambien F, Poirier O, Lecerf L, et al. Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature. 1992;359:641-644.
28. Evans A, Poirier O, Kee F, et al. Polymorphisms of the angiotensin-converting-enzyme gene in subjects who die from coronary artery disease. QJM. 1994; 87:211-214.
29. Gelernter J, Goldman D, Risch N. The A1 allele at the D2 dopamine receptor gene and alcoholism: a reappraisal. JAMA. 1993;269:1673-1677.
30. Pato CN, Macciardi F, Pato MT, Verga M, Kennedy JL. Review of the putative association of dopamine D2 receptor and alcoholism: a meta-analysis. Am J Med Genet 1993;48:78-82.
31. Yang L, Li T, Wiese C, et al. No association between schizophrenia and homozygosity at the D3 dopamine receptor gene. Am J Med Genet. 1993;48: 83-36.
32. Angier N. Maybe it's not a gene behind a person's thrill-seeking ways. The New York Times. November 1, 1996:A22.
33. Malhotra AK, Virkkunen M, Rooney W, Eggert M, Linnoila M, Goldman D. The association between the dopamine D4 receptor (D4DR) 16 amino acid repeat polymorphism and novelty seeking. Mol Psychiatry. 1996;1:388-391.
34. Kidd KK. Associations of disease with genetic markers: deja vu all over again. Am J Med Genet 1993; 48:71-73.
35. Reid MC, Lachs MS, Feinstein AR. Use of methodological standards in diagnostic test research: getting better but still not good. JAMA. 1995;274:645-651.
36. Becker DM, Philbrick JT, Abbitt PL. Real-time ultrasonography for the diagnosis of lower extremity deep venous thrombosis: the wave of the future? Arch Intern Med. 1989;149:1731-1734.
37. Cooper LS, Chalmers TC, McCally M, Berrier J, Sacks HS. The poor quality of early evaluations of magnetic resonance imaging. JAMA. 1988;259:3277-3280.
38. Kent DL, Haynor DR, Longstreth WT, Larson EB. The clinical efficacy of magnetic resonance imaging in neuroimaging. Ann Intern Med. 1994;120:856-871.
39. Greenes RA, Begg CB. Assessment of diagnostic technologies: methodology for unbiased estimation from samples of selectively verified patients. Invest Radiol. 1985;20:751-757.
40. Bates AS, Margolis PA, Evans AT. Verification bias in pediatric studies evaluating diagnostic tests. J Pediatr. 1993;122:585-590.
41. Sheps SB, Schechter MT. The assessment of diagnostic tests: a survey of current medical research. JAMA. 1984;252:2418-2422.
42. Arroll B, Schlechter MT, Sheps SB. The assessment of diagnostic tests: a comparison of medical literature in 1982 and 1985. J Gen Intern Med. 1988; 3:443-447.
43. Ransohoff DF, Feinstein AR. Problems of spectrum and bias in evaluating the efficacy of diagnostic tests. N Engl J Med. 1978;299:926-930.
44. Nierenberg AA, Feinstein AR. How to evaluate a diagnostic marker test lessons from the rise and fall of the dexamethasone suppression test. JAMA. 1988; 259:1699-1702.
45. Fletcher RH. Carcinoembryonic antigen. Ann Intern Med. 1986;104:66-73.
46. Golightly MG. Laboratory considerations in the diagnosis and management of Lyme borreliosis. Am J Clin Pathol. 1993;99:168-174.
47. Lensing AWA, Hirsh J. 125 I-fibrinogen leg scanning: reassessment of its role for the diagnosis of venous thrombosis in post-operative patients. Thromb Haemost 1993;69:2-7.
48. Roy B. The Julius Rosenwald Fund syphilis seroprevalence studies. J Natl Med Assoc. 1996;88:315-322.
49. Feinstein AR, Horwitz RI. Choosing cases and controls: the clinical epidemiology of "clinical investigation." J Clin Invest 1988;81:1-5.
50. Fineberg HV, Hiatt HH. Evaluation of medical practices: the case fortechnology assessment. N Engl J Med. 1979;301:1086-1091.
51. Jaeschke R, Guyatt GH, Sackett DL, for the Evidence-Based Medicine Working Group. Users' guides to the medical literature, III: how to use an article about a diagnostic test, A: are the results of the study valid? JAMA. 1994;271:389-391.
52. Jaeschke R, Guyatt GH, Sackett DL, for the Evidence-Based Medicine Working Group. Users' guide to the medical literature, III: how to use an article about a diagnostic test, B: what are the results and will they help me in caring for my patient? JAMA. 1994;271: 703-707.
53. Guyatt GH, Tugwell PX, Feeny DH, Haynes RB, Drummond M. A framework for clinical evaluation of diagnostic technologies. CMAJ. 1986;134:587-594.
54. Begg CB. Biases in the assessment of diagnostic tests. Stat Med. 1987;6:411-423.
55. Kent DL, Larson EB. Disease, level of impact, and quality of research methods: three dimensions of clinical efficacy assessment applied to magnetic resonance imaging. Invest Radiol. 1992;27:245-254.
56. Laupacis A, Sekar N, Stiell IG. Clinical prediction rules: a review and suggested modifications of methodological standards. JAMA. 1997;277:488-494.
57. Power EJ, Tunis SR, Wagner JL. Technology assessment and public health. Annu Rev Public Health. 1994;15:561-579.
58. van der Put NMJ, Steegers-Theunissen RPM, Frosst P, et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995;346: 1070-1071.
59. Abrahamov A, Elstein D, Gross-Tsur V, et al. Gauchar's disease variant characterized by progressive calcification of heart valves and unique genotype. Lancet 1995;346:1000-1003.
60. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;346:1133-1134.
61. Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G. Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet. 1995;346:741-742.
62. Stern RC, Doershuk CF, Drumm ML. 3849 + 10 kb C→T mutation and disease severity in cystic fibrosis. Lancet 1995;346:274-276.
63. 2A receptor gene. Lancet 1995;346:281-282.
64. Harden PN, Geddes C, Rowe PA, et al. Polymorphisms in angiotensin-converting-enzyme gene and progression of IgA nephropathy. Lancet 1995;345: 1540-1542.
65. Garred P, Madsen HO, Hofmann B, Svejgaard A. Increased frequency of homozygosity of abnormal mannan-blnding-protein alleles in patients with suspected immunodeficiency. Lancet 1995;346:941-943.
66. Chabriat H, Vahedi K, Iba-Zizen MT, et al. Clinical spectrum of CADASIL: a study of 7 families. Lancet. 1995;346:934-939.
67. Ruiz J, Blanche H, James RW, et al. Gln-Arg192 polymorphism of paraoxonase and coronary heart disease in type 2 diabetes. Lancet 1995;346:869-872.
68. Thorlacius S, Tryggvadottir L, Olafsdottir GH, et al. Linkage to BRCA2 region in hereditary male breast cancer. Lancet 1995;346:544-545.
69. Clausen JO, Hansen T, Bjorbaek C, et al. Insulin resistance: interactions between obesity and a common variant of insulin receptor substrate-1. Lancet 1995;346:397-402.
70. Hayashi N, Ito I, Yanagisawa A, et al. Genetic diagnosis of lymph-node metastasis in colorectal cancer. Lancet 1995;345:1257-1259.
71. Samani NJ, Martin DS, Brack M, et al. Insertion/ deletion polymorphism in the anglotensin-converting enzyme gene and risk of restenosis after coronary angioplasty. Lancet. 1995;345:1013-1016.
72. Aono S, Adachi Y, Uyama E, et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995;345:958-959.
73. Summerfield JA, Ryder S, Sumiya M, et al. Mannose binding protein gene mutations associated with unusual and severe infections in adults. Lancet 1995; 345:886-889.
74. Agundez JAG, Ledesma MC, Benitez J, et al. CYP2D6 genes and risk of liver cancer. Lancet 1995; 345:830-831.
75. Ferrari S, Rizzoli R, Chevalley T, Slosman D, Eisman JA, Bonjour JP. Vitamin D receptor-gene polymorphisms and change in lumbar-spine bone mineral density. Lancet 1995;345:423-424.
76. Jouet M, Kenwrick S. Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus. Lancet 1995;345:161-162.
77. Orscheschek K, Merz H, Hell J, Binder T, Bartels H, Feller AC. Large-cell anaplastic lymphomaspecific translocation in Hodgkin's disease: Indication of a common pathogenesis? Lancet 1995;345: 87-90.
78. Calvert R, Randerson J, Evans P, et al. Genetic abnormalities during transition from Helicobacter pylori-associated gastritis to low-grade maltoma. Lancet 1995;345:26-27.
79. Bloemenkamp KWM, Rosendaal FR, Helmerhorst FM, Buller HR, Vandenbroucke JP. Enhancement by factor V Leiden mutation of risk of deepvein thrombosis associated with oral contraceptives containing a third-generation progestagen. Lancet 1995;346:1593-1596.
80. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458-1463.
81. Henderson AS, Easteal S, Jorm AF, et al. Apolipoprotein E allele ∈4, dementia, and cognitive decline in a population sample. Lancet 1995;346:1387-1390.
82. van Herwerden L, Harrap SB, Wong ZYH, et al. Linkage of high-affinity IgE receptor gene with bronchial hyperreactivity, even in absence of atopy. Lancet 1995;346:1262-1265.
83. Jass JR, Cottier DS, Jeevaratnam P, et al. Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet 1995;346:1200-1201.
84. Whatley SD, Roberts AG, Elder GH. De-novo mutation and sporadic presentation of acute intermittent porphyria. Lancet 1995;346:1007-1008.
85. Kwak LW, Taub DD, Duffey PL, et al. Transfer of myeloma idiotype-specific immunity from an actively immunized marrow donor. Lancet 1995;345: 1016-1020.
86. 2-adrenoceptor polymorphism with lower airway reactivity in asthmatic subjects. Lancet 1995;345:1213-1214.
87. Smith JD, Rose ML, Pomerance A, Burke M, Yacoub MH. Reduction of cellular rejection and increase in longer-term survival after heart transplantation after HLA-DR matching. Lancet. 1995;346: 1318-1322.
88. Gjertsen MK, Bakka A, Breivik J, et al. Vaccination with mutant ras peptides and induction of T-cell responsiveness in pancreatic carcinoma patients carrying the corresponding RAS mutation. Lancet 1995; 346:1399-1400.
89. Wagner JE, Kernan NA, Steinbuch M, Broxmeyer HE, Gluckman E. Allogeneic sibling umbilical cord blood transplantation in children with malignant and non-malignant disease. Lancet 1995;346: 214-219.
90. Bayerdorffer E, Neubauer A, Rudolph B, et al. Regression of primary gastric lymphoma of mucosaassodated lymphoid tissue type after cure of Helicobacter pylori infection. Lancet 1995;345:1591-1594.
91. Kramer MH, Kluin PM, Wijburg ER, Fibbe WE, Kluin-Nelemans HC. Differentiation of follicular lymphoma cells after autologous bone marrow transplantation and haematopoietic growth factor treatment. Lancet 1995;345:488-490.
92. Rooney CM, Smith A, Ng CYC, et al. Use of genemodified virus-specific T lymphocytes to control Epstein-Barr virus-related lymphoproliferation. Lancet 1995;345:9-13.
93. Polvikoski T, Sulkava R, Haltia M, et al. Apolipoprotein E, dementia, and cortical deposition of β-amyloid protein. N Engl J Med. 1995;333:1242-1247.
94. Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995;333:1171-1175.
95. Hummel M, Ziemann K, Lammert H, Pileri S, Sabattini E, Stein H. Hodgkin's disease with monoclonal and polyclonal populations of Reed-Sternberg cells. N Engl J Med. 1995;333:901-906.
96. Gotoda T, Arita M, Arai H, et al. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the α-tocopherol-transfer protein. N Engl J Med. 1995;333:1313-1318.
97. Goddard AD, Covello R, Luoh SM, et al. Mutations of the growth hormone receptor in children with idiopathic short stature. N Engl J Med. 1995;333: 1093-1098.
98. Dong F, Brynes RK, Tidow N, Welte K, Lowenberg B, Touw IP. Mutations in the gene for the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med. 1995;333: 487-493.
99. Goldstein AM, Fraser MC, Struewing JP, et al. Increased risk of pancreatic cancer in melanoma-prone kindreds with p16 mutations. N Engl J Med. 1995; 333:970-974.
100. Postma DS, Bleecker ER, Amelung PJ, et al. Genetic susceptibility to asthma: bronchial hyperresponsiveness coinherited with a major gene for atopy. N Engl J Med. 1995;333:894-900.
101. Brennan JA, Mao L, Hruban RH, et al. Molecular assessment of histopathological staging in squamous-cell carcinoma of the head and neck. N Engl J Med 1995;332:429-435.
102. Candeliere GA, Glorieux FH, Prud'homme J, St Arnaud R. Increased expression of the c-fos protooncogene in bone from patients with fibrous dysplasia. N Engl J Med. 1995;332:1546-1551.
103. Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332: 1475-1480.
104. Taplin ME, Bubley GJ, Shuster TD, et al. Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer. N Engl J Med. 1995;332:1393-1398.
105. Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. 1995;332:1323-1329.
106. Thursz MR, Kwiatkowski D, Allsopp CEM, Greenwood BM, Thomas HC, Hill AVS. Association between an MHC class II allele and clearance of hepatitis B virus in the Gambia. N Engl J Med. 1995;332: 1065-1069.
107. Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995;332:1058-1064.
108. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med. 1995; 332:912-917.
109. 4 the head and neck. N Engl J Med. 1995;332:712-717.
110. Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med. 1995; 332:839-847.
111. Whelan AJ, Bartsch D, Goodfellow PJ. Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. N Engl J Med. 1995;333:975-977.
112. 3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity. N Engl J Med. 1995;333:352-354.
113. 3-adrenergic-receptor gene with features of the insulin resistance syndrome in Finns. N Engl J Med. 1995;333:348-351.
114. 3-adrenergic-receptor gene. N Engl J Med. 1995;333:343-347.
115. Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333: 288-293.
116. Gan KH, Veeze HJ, Van Den Ouweland AMW, et al. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med. 1995;333:95-99.
117. Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995;332:155-160.
118. Kopp P, Van Sande J, Parma J, et al. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 1995;332:150-154.
119. Wolf HM, Hauber I, Gulle H, et al. Brief report: twin boys with major histocompatibility complex class II deficiency but inducible immune responses. N Engl J Med. 1995;332:86-90.
120. O'Rahilly S, Gray H, Humphreys PJ, et al. Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. N Engl J Med. 1995;333:1386-1390.
121. Knowles MR, Hohneker KW, Zhou Z, et al. A controlled study of adenoviral vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N Engl J Med. 1995;333:823-831.
122. Walter EA, Greenberg PD, Gilbert MJ, et al. Reconstitution of cellular immunity against cytomegalovirus in recipients of allogeneic bone marrow by transfer of T-cell clones from the donor. N Engl J Med. 1995; 333:1038-1044.
123. Thomas C, de Saint Basile G, Le Deist F, et al. Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. N Engl J Med. 1995;333:426-429.
124. Kaufmann Y, Many A, Rechavi G, et al. Brief report lymphoma with recurrent cycles of spontaneous remission and relapse - possible role of apoptosis. N Engl J Med. 1995;332:507-510.
125. Issaragrisil S, Visuthisakchai S, Suvatte V, et al. Brief report: transplantation of cord-blood stem cells into a patient with severe thalassemia. N Engl J Med. 1995;332:367-369.
126. Neumann HPH, Eng C, Mulligan LM, et al. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA. 1995;274: 1149-1151.
127. Barr FG, Chatten J, D'Cruz CM, et al. Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA 1995; 273:553-557.
128. Tokgozoglu LS, Ashizawa T, Pacifico A, Armstrong RM, Epstein HF, Zoghbi WA. Cardiac involvement in a large kindred with myotonic dystrophy. JAMA. 1995;274:813-819.
129. Petersen RC, Smith GE, Ivnik RJ, et al. Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. JAMA. 1995;273:1274-1278.
130. Guo W, Mason JS, Stone CG Jr, et al. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. JAMA. 1995;274: 324-330.
131. Hung J, Kishimoto Y, Sugio K, et al. Allele-specific chromosome 3p deletions occur at an early stage in the pathogenesis of lung carcinoma. JAMA. 1995;273:558-563.
132. Small GW, Mazziotta JC, Collins MT, et al. Apolipoprotein E type 4 allele and cerebral glucose metabolism in relatives at risk for familial Alzheimer disease. JAMA. 1995;273:942-947.
133. Shattuck-Eidens D, McClure M, Simard J, et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. JAMA. 1995;273:535-541.
134. Spector TD, Keen RW, Arden NK, et al. Influence of vitamin D receptor genotype on bone mineral density in postmenopausal women: a twin study in Britain. BMJ. 1995;310:1357-1360.
135. Cui KH, Haan EA, Wang LJ, Matthews CD. Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (Δ508). BMJ. 1995;311:536-540.
136. van Duijn CM, Havekes LM, Van Broeckhoven C, de Knifff P, Hofman A. Apolipoprotein E genotype and association between smoking and early onset Alzheimer's disease. BMJ. 1995;310:627-631.
137. Hill MR, James AL, Faux JA, et al. Fc∈RI-β polymorphism and risk of atopy in a general population sample. BMJ. 1995;311:776-779.
138. Miedzybrodzka ZH, Hall MH, Mollison J, et al. Antenatal screening for carriers of cystic fibrosis: randomized trial of stepwise v couple screening. BMJ. 1995;310:353-357.
139. Feinstein AR. Clinical Epidemiology: The Architecture of Clinical Research. Philadelphia, Pa: WB Saunders Co; 1985.
140. Zaaijer HL, Cuypers HT, Reesink HW, Winkel IN, Gerken G, Lelie PN. Reliability of polymerase chain reaction for detection of hepatitis C virus. Lancet 1993; 341:722-724.
141. Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics. 1977;33:159-174.
142. Campbell DA, Field M, McArdle CS, Cooke TG, Gallagher G. Retraction: polymorphism at the tumor necrosis factor locus - a marker of genetic predisposition to colorectal cancer? Lancet. 1996;347:1706.
143. Chapman J, Korczyn AD, Goldfarb LG. Retraction: familial Alzheimer's disease associated with S182 codon 286 mutation. Lancet. 1996;348:206.