-
2
-
-
0028078717
-
Hemophilia A
-
Hoyer LW. Hemophilia A. N Engl J Med 1994;330:38-47.
-
(1994)
N Engl J Med
, vol.330
, pp. 38-47
-
-
Hoyer, L.W.1
-
3
-
-
0034124571
-
Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIIl (recombinate)
-
Goodeve AC, Williams I, Bray GL, Peake IR. Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIIl (Recombinate). Thromb Haemost 2000;83:844-8.
-
(2000)
Thromb Haemost
, vol.83
, pp. 844-848
-
-
Goodeve, A.C.1
Williams, I.2
Bray, G.L.3
Peake, I.R.4
-
4
-
-
0036087342
-
Function and genetics of dystrophin and dystrophin-related proteins in muscle
-
Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002;82:291-329.
-
(2002)
Physiol Rev
, vol.82
, pp. 291-329
-
-
Blake, D.J.1
Weir, A.2
Newey, S.E.3
Davies, K.E.4
-
5
-
-
84860735272
-
-
Seattle: University of Washington
-
Korf BR, Darras BT, Urion DK. Dystrophinopathies [includes: Duchenne muscular dystrophy (DMD), pseudohypertrophic muscular dystrophy, Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM)]. Seattle: University of Washington, 2003. (Accessed August 8, 2003, at http://www.geneclinics.org/profiles/dbmd/ details.html.)
-
(2003)
Dystrophinopathies [Includes: Duchenne Muscular Dystrophy (DMD), Pseudohypertrophic Muscular Dystrophy, Becker Muscular Dystrophy (BMD), and X-Linked Dilated Cardiomyopathy (XLDCM)]
-
-
Korf, B.R.1
Darras, B.T.2
Urion, D.K.3
-
6
-
-
0030920253
-
Dystrophinopathy, the expanding phenotype: Dystrophin abnormalities in X-linked dilated cardiomyopathy
-
Beggs AH. Dystrophinopathy, the expanding phenotype: dystrophin abnormalities in X-linked dilated cardiomyopathy. Circulation 1997;95:2344-7.
-
(1997)
Circulation
, vol.95
, pp. 2344-2347
-
-
Beggs, A.H.1
-
8
-
-
0030050973
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
-
Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-95.
-
(1996)
Nat Genet
, vol.13
, pp. 189-195
-
-
Johnson, D.W.1
Berg, J.N.2
Baldwin, M.A.3
-
9
-
-
0028171579
-
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
-
McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-51.
-
(1994)
Nat Genet
, vol.8
, pp. 345-351
-
-
McAllister, K.A.1
Grogg, K.M.2
Johnson, D.W.3
-
10
-
-
0031718588
-
Clinical implications of cystic fibrosis transmembrane conductance regulator mutations
-
Mickle JE, Cutting GR. Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. Clin Chest Med 1998;19:443-58.
-
(1998)
Clin Chest Med
, vol.19
, pp. 443-458
-
-
Mickle, J.E.1
Cutting, G.R.2
-
11
-
-
0034109607
-
Genotype and phenotype in cystic fibrosis
-
Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:117-33.
-
(2000)
Respiration
, vol.67
, pp. 117-133
-
-
Zielenski, J.1
-
12
-
-
0029003982
-
A cystic fibrosis mutation associated with mild lung disease
-
Gan K-H, Veeze HJ, van den Ouweland AMW, et al. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med 1995;333:95-9.
-
(1995)
N Engl J Med
, vol.333
, pp. 95-99
-
-
Gan, K.-H.1
Veeze, H.J.2
Van den Ouweland, A.M.W.3
-
13
-
-
0031456275
-
Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation
-
De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G. Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation. Hum Genet 1997;101:208-11.
-
(1997)
Hum Genet
, vol.101
, pp. 208-211
-
-
De Braekeleer, M.1
Allard, C.2
Leblanc, J.P.3
Simard, F.4
Aubin, G.5
-
14
-
-
0027517995
-
Correlation between genotype and phenotype in patients with cystic fibrosis
-
The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993;329:1308-13.
-
(1993)
N Engl J Med
, vol.329
, pp. 1308-1313
-
-
-
15
-
-
0025011995
-
Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis
-
Santis G, Osbome L, Knight RA, Hodson ME. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet 1990;336:1081-4.
-
(1990)
Lancet
, vol.336
, pp. 1081-1084
-
-
Santis, G.1
Osbome, L.2
Knight, R.A.3
Hodson, M.E.4
-
16
-
-
0026783823
-
Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations
-
Burke W, Aitken ML, Chen SH, Scott CR. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. Chest 1992;102:506-9.
-
(1992)
Chest
, vol.102
, pp. 506-509
-
-
Burke, W.1
Aitken, M.L.2
Chen, S.H.3
Scott, C.R.4
-
17
-
-
0032695668
-
Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis
-
Garred P, Pressler T, Madsen HO, et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest 1999;104:431-7.
-
(1999)
J Clin Invest
, vol.104
, pp. 431-437
-
-
Garred, P.1
Pressler, T.2
Madsen, H.O.3
-
18
-
-
13344282728
-
Modulation ofdisease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
-
Erratum, Nat Genet 1996;13:129
-
Rozmahel R, Wilschanski M, Matin A, et al. Modulation ofdisease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 1996;12:280-7. [Erratum, Nat Genet 1996;13:129.]
-
(1996)
Nat Genet
, vol.12
, pp. 280-287
-
-
Rozmahel, R.1
Wilschanski, M.2
Matin, A.3
-
19
-
-
0037157787
-
Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes
-
Salvatore F, Scudiero O, Castaldo G. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet 2002;111:88-95.
-
(2002)
Am J Med Genet
, vol.111
, pp. 88-95
-
-
Salvatore, F.1
Scudiero, O.2
Castaldo, G.3
-
20
-
-
0037208909
-
Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs
-
Mekus F, Laabs U, Veeze H, Tummler B. Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs. Hum Genet 2003;112:1-11.
-
(2003)
Hum Genet
, vol.112
, pp. 1-11
-
-
Mekus, F.1
Laabs, U.2
Veeze, H.3
Tummler, B.4
-
21
-
-
0033028607
-
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
-
Zielenski J, Corey M, Rozmahel R, et al. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 1999;22:128-9.
-
(1999)
Nat Genet
, vol.22
, pp. 128-129
-
-
Zielenski, J.1
Corey, M.2
Rozmahel, R.3
-
22
-
-
0026556587
-
Association ofpoor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion
-
Campbell PW III, Parker RA, Roberts BT, Krishnamani MR Phillips JA III. Association ofpoor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion. J Pediatr 1992;120:261-4.
-
(1992)
J Pediatr
, vol.120
, pp. 261-264
-
-
Campbell P.W. III1
Parker, R.A.2
Roberts, B.T.3
Krishnamani, M.R.4
Phillips J.A. III5
-
23
-
-
0033799531
-
Modifier genes convert "simple" Mendelian disorders to complex traits
-
Dipple KM, McCabe ER. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 2000;71: 43-50.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 43-50
-
-
Dipple, K.M.1
McCabe, E.R.2
-
24
-
-
0030916094
-
Absence of health insurance is associated with decreased life expectancy in patients with cystic fibrosis
-
Curtis JR, Burke W, Kassner AW, Aitken ML. Absence of health insurance is associated with decreased life expectancy in patients with cystic fibrosis. Am J Respir Crit Care Med 1997;155:1921-4.
-
(1997)
Am J Respir Crit Care Med
, vol.155
, pp. 1921-1924
-
-
Curtis, J.R.1
Burke, W.2
Kassner, A.W.3
Aitken, M.L.4
-
25
-
-
0024590336
-
Effects of social class, sex, and region of residence on age at death from cystic fibrosis
-
Britton JR. Effects of social class, sex, and region of residence on age at death from cystic fibrosis. BMJ 1989;298:483-7.
-
(1989)
BMJ
, vol.298
, pp. 483-487
-
-
Britton, J.R.1
-
26
-
-
1842339924
-
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
-
Dork T, Dworniczak B, Aulehla-Scholz C, et al. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 1997;100:365-77.
-
(1997)
Hum Genet
, vol.100
, pp. 365-377
-
-
Dork, T.1
Dworniczak, B.2
Aulehla-Scholz, C.3
-
27
-
-
0035722764
-
'CFTR-opathies': Disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
-
Noone PG, Knowles MR. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001;2:328-32.
-
(2001)
Respir Res
, vol.2
, pp. 328-332
-
-
Noone, P.G.1
Knowles, M.R.2
-
28
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Errata, Nature 2001;411:720, 412:565
-
Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921. [Errata, Nature 2001;411:720, 412:565.]
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
-
29
-
-
0037421590
-
Pharmacogenomics - Drug disposition, drug targets, and side effects
-
Evans WE, McLeod HL. Pharmacogenomics - drug disposition, drug targets, and side effects. N Engl J Med 2003;348: 538-49.
-
(2003)
N Engl J Med
, vol.348
, pp. 538-549
-
-
Evans, W.E.1
McLeod, H.L.2
-
30
-
-
0037421584
-
Inheritance and drug response
-
Weinshilboum R. Inheritance and drug response. N Engl J Med 2003;348:529-37.
-
(2003)
N Engl J Med
, vol.348
, pp. 529-537
-
-
Weinshilboum, R.1
-
31
-
-
0033168459
-
Shattuck Lecture - Medical and societal consequences of the Human Genome Project
-
Collins FS. Shattuck Lecture - medical and societal consequences of the Human Genome Project. N Engl J Med 1999;341:28-37.
-
(1999)
N Engl J Med
, vol.341
, pp. 28-37
-
-
Collins, F.S.1
-
32
-
-
0034178262
-
Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review
-
Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am J Epidemiol 2000;151:839-45.
-
(2000)
Am J Epidemiol
, vol.151
, pp. 839-845
-
-
Ashley-Koch, A.1
Yang, Q.2
Olney, R.S.3
-
33
-
-
0037079943
-
Influence of interleukin-1 receptor antagonist gene polymorphism on disease
-
Witkin SS, Gerber S, Ledger WJ. Influence of interleukin-1 receptor antagonist gene polymorphism on disease. Clin Infect Dis 2002;34:204-9.
-
(2002)
Clin Infect Dis
, vol.34
, pp. 204-209
-
-
Witkin, S.S.1
Gerber, S.2
Ledger, W.J.3
-
34
-
-
0035107139
-
Interactions between genes and environment in the development of asthma
-
Patino CM, Martinez FD. Interactions between genes and environment in the development of asthma. Allergy 2001;56:279-86.
-
(2001)
Allergy
, vol.56
, pp. 279-286
-
-
Patino, C.M.1
Martinez, F.D.2
-
35
-
-
0037192906
-
Surveillance for asthma - United States, 1980-1999
-
Mannino DM, Homa DM, Akinbami LJ, Moorman JE, Gwynn C, Redd SC. Surveillance for asthma - United States, 1980-1999. MMWR CDC Surveill Summ 2002;51: 1-13.
-
(2002)
MMWR CDC Surveill Summ
, vol.51
, pp. 1-13
-
-
Mannino, D.M.1
Homa, D.M.2
Akinbami, L.J.3
Moorman, J.E.4
Gwynn, C.5
Redd, S.C.6
-
37
-
-
0036128210
-
Asthma genetics
-
Cookson WO. Asthma genetics. Chest 2002;121:Suppl:7S-13S.
-
(2002)
Chest
, vol.121
-
-
Cookson, W.O.1
-
38
-
-
0034981949
-
Current concepts of the genetics of asthma
-
Hakonarson H, Wjst M. Current concepts of the genetics of asthma. Curr Opin Pediatr 2001;13:267-77.
-
(2001)
Curr Opin Pediatr
, vol.13
, pp. 267-277
-
-
Hakonarson, H.1
Wjst, M.2
-
39
-
-
0037173639
-
Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness
-
Van Eerdewegh P, Little RD, Dupuis J, et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002;418:426-30.
-
(2002)
Nature
, vol.418
, pp. 426-430
-
-
Van Eerdewegh, P.1
Little, R.D.2
Dupuis, J.3
-
40
-
-
0037136569
-
ADAM-33 surfaces as an asthma gene
-
Shapiro SD, Owen CA. ADAM-33 surfaces as an asthma gene. N Engl J Med 2002; 347:936-8.
-
(2002)
N Engl J Med
, vol.347
, pp. 936-938
-
-
Shapiro, S.D.1
Owen, C.A.2
-
41
-
-
0031255154
-
Polymorphisms of the beta2-adrenergic receptor and asthma
-
Liggett SB. Polymorphisms of the beta2-adrenergic receptor and asthma. Am J Respir Crit Care Med 1997;156:S156-S162
-
(1997)
Am J Respir Crit Care Med
, vol.156
-
-
Liggett, S.B.1
-
42
-
-
0034881918
-
New insights into the role of cytokines in asthma
-
Renauld JC. New insights into the role of cytokines in asthma. J Clin Pathol 2001; 54:577-89.
-
(2001)
J Clin Pathol
, vol.54
, pp. 577-589
-
-
Renauld, J.C.1
-
43
-
-
0033946186
-
Polymorphisms at the glutathione S-transferase, GSTP1 locus: A novel mechanism for susceptibility and development of atopic airway inflammation
-
Spiteri MA, Bianco A, Strange RC, Fryer AA. Polymorphisms at the glutathione S-transferase, GSTP1 locus: a novel mechanism for susceptibility and development of atopic airway inflammation. Allergy 2000; 55:Suppl 6l:15-20.
-
(2000)
Allergy
, vol.55
, Issue.SUPPL.
, pp. 15-20
-
-
Spiteri, M.A.1
Bianco, A.2
Strange, R.C.3
Fryer, A.A.4
-
44
-
-
0034982420
-
Association of asthma with beta(2)-adrenergic receptor gene polymorphism and cigarette smoking
-
Erratum, Am J Respir Crit Care Med 2002;166:775
-
Wang Z, Chen C, Niu T, et al. Association of asthma with beta(2)-adrenergic receptor gene polymorphism and cigarette smoking. Am J Respir Crit Care Med 2001; 163:1404-9. [Erratum, Am J Respir Crit Care Med 2002;166:775.]
-
(2001)
Am J Respir Crit Care Med
, vol.163
, pp. 1404-1409
-
-
Wang, Z.1
Chen, C.2
Niu, T.3
-
45
-
-
0031977774
-
Definition of asthma: Possible approaches in genetic studies
-
Postma DS, Meijer GG, Koppelman GH. Definition of asthma: possible approaches in genetic studies. Clin Exp Allergy 1998;28:Suppl 1:62-6.
-
(1998)
Clin Exp Allergy
, vol.28
, Issue.SUPPL. 1
, pp. 62-66
-
-
Postma, D.S.1
Meijer, G.G.2
Koppelman, G.H.3
-
47
-
-
0035060043
-
Severe asthma phenotypes: The case for more specificity
-
Ayres J. Severe asthma phenotypes: the case for more specificity J R Soc Med 2001; 94:115-8.
-
(2001)
J R Soc Med
, vol.94
, pp. 115-118
-
-
Ayres, J.1
-
48
-
-
0035719983
-
Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma
-
Palmer LJ, Cookson WO. Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma. Respir Res 2001;2:102-12.
-
(2001)
Respir Res
, vol.2
, pp. 102-112
-
-
Palmer, L.J.1
Cookson, W.O.2
-
49
-
-
0035659262
-
Association studies in asthma genetics
-
Weiss ST. Association studies in asthma genetics. Am J Respir Crit Care Med 2001; 165:2014-5.
-
(2001)
Am J Respir Crit Care Med
, vol.165
, pp. 2014-2015
-
-
Weiss, S.T.1
-
50
-
-
0037103172
-
Reporting, appraising, and integrating data on genotype prevalence and gene-disease associations
-
Little J, Bradley L, Bray MS, et al. Reporting, appraising, and integrating data on genotype prevalence and gene-disease associations. Am J Epidemiol 2002;156: 300-10.
-
(2002)
Am J Epidemiol
, vol.156
, pp. 300-310
-
-
Little, J.1
Bradley, L.2
Bray, M.S.3
-
51
-
-
0032067789
-
The future of genetic studies of complex human diseases: An epidemiologic perspective
-
Khoury MJ, Yang Q. The future of genetic studies of complex human diseases: an epidemiologic perspective. Epidemiology 1998;9:350-4.
-
(1998)
Epidemiology
, vol.9
, pp. 350-354
-
-
Khoury, M.J.1
Yang, Q.2
-
55
-
-
0033576335
-
A post-genomic challenge: Learning to read patterns of protein synthesis
-
Abbott A. A post-genomic challenge: learning to read patterns of protein synthesis. Nature 1999;402:715-20.
-
(1999)
Nature
, vol.402
, pp. 715-720
-
-
Abbott, A.1
-
56
-
-
0032831070
-
Structural genomics: Beyond the human genome project
-
Burley SK, Almo SC, Bonanno JB, et al. Structural genomics: beyond the Human Genome Project. Nat Genet 1999;:151-7.
-
(1999)
Nat Genet
, pp. 151-157
-
-
Burley, S.K.1
Almo, S.C.2
Bonanno, J.B.3
|