-
1
-
-
0027180368
-
The thalassemia syndromes
-
Higgs DR. The thalassemia syndromes. Q J Med 1993;86:559-564.
-
(1993)
Q J Med
, vol.86
, pp. 559-564
-
-
Higgs, D.R.1
-
3
-
-
0000026508
-
Cystic fibrosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill
-
Welsh MJ, Tsui LC, Boat TF, Beaudet AL. Cystic fibrosis. In, Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The metabolic and molecular basis of inherited disease. New York: McGraw-Hill, 1995;3799-3876.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3799-3876
-
-
Welsh, M.J.1
Tsui, L.C.2
Boat, T.F.3
Beaudet, A.L.4
-
4
-
-
3042803840
-
Is cascade testing a sensible method of screening a population for autosomal recessive disorders?
-
Morris JK, Law MR, Wald NJ. Is cascade testing a sensible method of screening a population for autosomal recessive disorders? Am J Med Genet A 2004;128:271-275.
-
(2004)
Am J Med Genet A
, vol.128
, pp. 271-275
-
-
Morris, J.K.1
Law, M.R.2
Wald, N.J.3
-
5
-
-
0037211592
-
The feasibility of using ethnicity as a primary tool for antenatal selective screening for sickle cell disorders: Pointers from the research evidence
-
Aspinall PJ, Dyson SM, Anionwu EN. The feasibility of using ethnicity as a primary tool for antenatal selective screening for sickle cell disorders: pointers from the research evidence. Soc Sci Med 2003;56:285-297.
-
(2003)
Soc Sci Med
, vol.56
, pp. 285-297
-
-
Aspinall, P.J.1
Dyson, S.M.2
Anionwu, E.N.3
-
6
-
-
0036258208
-
Cystic fibrosis: A worldwide analysis of CFTR mutations- Correlation with incidence data and application to screening
-
Bobadilla JL, Macek M, Jr., Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations- correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
-
(2002)
Hum Mutat
, vol.19
, pp. 575-606
-
-
Bobadilla, J.L.1
Macek Jr., M.2
Fine, J.P.3
Farrell, P.M.4
-
7
-
-
16644402107
-
Assessing ethnicity in preconception counseling: Genetics-what nurse practitioners need to know
-
Edwards QT, Seibert D, Macri C, Covington C, et al. Assessing ethnicity in preconception counseling: genetics-what nurse practitioners need to know. J Am Acad Nurse Pract 2004;16:472-480.
-
(2004)
J Am Acad Nurse Pract
, vol.16
, pp. 472-480
-
-
Edwards, Q.T.1
Seibert, D.2
Macri, C.3
Covington, C.4
-
8
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
-
The Biomed CF Mutation Analysis Consortium
-
Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997;10:135-154.
-
(1997)
Hum Mutat
, vol.10
, pp. 135-154
-
-
Estivill, X.1
Bancells, C.2
Ramos, C.3
-
9
-
-
0000948931
-
Public and Professional Policy Committee (PPPC) Population genetic screening programmes: Proposed recommendations of the European Society of Hum Genet
-
Eurogappp. EUROGAPPP PROJECT 1999-2000
-
Eurogappp. EUROGAPPP PROJECT 1999-2000. Public and Professional Policy Committee (PPPC) Population genetic screening programmes: Proposed recommendations of the European Society of Hum Genet Eur J Hum Genet 2000;8:998-1000.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 998-1000
-
-
-
10
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
Grody WW, Cutting GR, Klinger KW, Richards CS, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-154.
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
Richards, C.S.4
-
11
-
-
0033123527
-
Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference
-
Haddow JE, Bradley LA, Palomaki GE, Doherty RA, et al. Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet Med 1999;1:129-135.
-
(1999)
Genet Med
, vol.1
, pp. 129-135
-
-
Haddow, J.E.1
Bradley, L.A.2
Palomaki, G.E.3
Doherty, R.A.4
-
12
-
-
0029019611
-
Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel
-
Kerem E, Kalman YM, Yahav Y, Shoshani T, et al. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum Genet 1995;96:193-197.
-
(1995)
Hum Genet
, vol.96
, pp. 193-197
-
-
Kerem, E.1
Kalman, Y.M.2
Yahav, Y.3
Shoshani, T.4
-
13
-
-
0033016804
-
Screening for cystic fibrosis
-
Murray J, Cuckle H, Taylor G, Littlewood J, et al Screening for cystic fibrosis. Health Technol Assess 1999;3:1-104.
-
(1999)
Health Technol Assess
, vol.3
, pp. 1-104
-
-
Murray, J.1
Cuckle, H.2
Taylor, G.3
Littlewood, J.4
-
14
-
-
0031855380
-
Global epidemiology of hemoglobin disorders
-
Angastiniotis M, Modell B. Global epidemiology of hemoglobin disorders. Ann N Y Acad Sci 1998;850:251-269.
-
(1998)
Ann N Y Acad Sci
, vol.850
, pp. 251-269
-
-
Angastiniotis, M.1
Modell, B.2
-
15
-
-
0034889014
-
Inherited haemoglobin disorders: An increasing global health problem
-
Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 2001;79:704-712.
-
(2001)
Bull World Health Organ
, vol.79
, pp. 704-712
-
-
Weatherall, D.J.1
Clegg, J.B.2
-
16
-
-
0035693480
-
Cystic fibrosis carrier screening: Steps in the development of a mutation panel
-
Gilbert F. Cystic fibrosis carrier screening: steps in the development of a mutation panel. Genet Test 2001;5:223-227.
-
(2001)
Genet Test
, vol.5
, pp. 223-227
-
-
Gilbert, F.1
-
17
-
-
0026643912
-
The stigma of disease: Implications of genetic screening
-
Markel H. The stigma of disease: implications of genetic screening. Am J Med 1992;93:209-215.
-
(1992)
Am J Med
, vol.93
, pp. 209-215
-
-
Markel, H.1
-
18
-
-
0036133168
-
Some ethical and design challenges of screening programs and screening tests
-
McQueen MJ. Some ethical and design challenges of screening programs and screening tests. Clin Chim Acta 2002;315:41-48.
-
(2002)
Clin Chim Acta
, vol.315
, pp. 41-48
-
-
McQueen, M.J.1
-
19
-
-
0038498375
-
Determination of ethnicity in children in the Netherlands: Two methods compared
-
Bouwhuis CB, Moll HA. Determination of ethnicity in children in The Netherlands: two methods compared. Eur J Epidemiol 2003;18:385-388.
-
(2003)
Eur J Epidemiol
, vol.18
, pp. 385-388
-
-
Bouwhuis, C.B.1
Moll, H.A.2
-
20
-
-
0033401410
-
An assessment of the Nam Pehchan computer program for the identification of names of south Asian ethnic origin
-
Cummins C, Winter H, Cheng KK, Maric R, et al. An assessment of the Nam Pehchan computer program for the identification of names of south Asian ethnic origin. J Public Health Med 1999;21:401-406.
-
(1999)
J Public Health Med
, vol.21
, pp. 401-406
-
-
Cummins, C.1
Winter, H.2
Cheng, K.K.3
Maric, R.4
-
21
-
-
23944473596
-
An algorithm to construct genetically similar subsets of families with the use of self-reported ethnicity information
-
Skol AD, Xiao R, Boehnke M. An algorithm to construct genetically similar subsets of families with the use of self-reported ethnicity information. Am J Hum Genet 2005;77:346-354.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 346-354
-
-
Skol, A.D.1
Xiao, R.2
Boehnke, M.3
-
22
-
-
4243835318
-
Genetic haematological disorders
-
Wald NJ, Leck I (eds): New York: Oxford University Press
-
Weatherall DJ, Letsky EA. Genetic haematological disorders. In, Wald NJ, Leck I (eds): Antenatal and neonatal screening. New York: Oxford University Press, 2000;243-281.
-
(2000)
Antenatal and Neonatal Screening
, pp. 243-281
-
-
Weatherall, D.J.1
Letsky, E.A.2
-
23
-
-
33747283463
-
-
Groningen; The Netherlands, Wolters-Noordhoff Atlas Productions
-
Wolters-Noordhoff. Wolters-Noordhoff WERELD@TLAS. 1999. Groningen; The Netherlands, Wolters-Noordhoff Atlas Productions.
-
(1999)
Wolters-Noordhoff WERELD@TLAS
-
-
Wolters-Noordhoff1
-
24
-
-
33747298953
-
-
Voorburg/Heerlen, the Netherlands
-
CBS. Statistics Netherlands. Population statistics, 2006. Voorburg/Heerlen, the Netherlands. Available at: http://www.cbs.nl. Accessed on June 29, 2006.
-
(2006)
Statistics Netherlands. Population Statistics
-
-
-
25
-
-
0022616659
-
Inherited disorders in the black population of southern Africa. Part I. Historical and demographic background; genetic haematological conditions
-
Beighton P, Botha MC. Inherited disorders in the black population of southern Africa. Part I. Historical and demographic background; genetic haematological conditions. S Afr Med J 1986;69:247-249.
-
(1986)
S Afr Med J
, vol.69
, pp. 247-249
-
-
Beighton, P.1
Botha, M.C.2
-
26
-
-
0023255710
-
Inherited haemoglobin variants in a South African population
-
Bird AR, Ellis P, Wood K, Mathew C, et al Inherited haemoglobin variants in a South African population. J Med Genet 1987;24:215-219.
-
(1987)
J Med Genet
, vol.24
, pp. 215-219
-
-
Bird, A.R.1
Ellis, P.2
Wood, K.3
Mathew, C.4
-
27
-
-
14844336906
-
Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis
-
Ahn KM, Park HY, Lee JH, Lee MG, et al. Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis. J Korean Med Sci 2005;20:153-157.
-
(2005)
J Korean Med Sci
, vol.20
, pp. 153-157
-
-
Ahn, K.M.1
Park, H.Y.2
Lee, J.H.3
Lee, M.G.4
-
28
-
-
14844317302
-
Asians with cystic fibrosis in the UK have worse disease outcomes than clinic matched white homozygous delta F508 controls
-
McCormick J, Ogston SA, Sims EJ, Mehta A. Asians with cystic fibrosis in the UK have worse disease outcomes than clinic matched white homozygous delta F508 controls. J Cyst Fibros 2005;4:53-58.
-
(2005)
J Cyst Fibros
, vol.4
, pp. 53-58
-
-
McCormick, J.1
Ogston, S.A.2
Sims, E.J.3
Mehta, A.4
-
29
-
-
22044442978
-
Variations of the CFTR gene in the Hanoi-Vietnamese
-
Nam MH, Hijikata M, Tuan lA, Lien LT, et al Variations of the CFTR gene in the Hanoi-Vietnamese. Am J Med Genet A 2005;136:249-253.
-
(2005)
Am J Med Genet A
, vol.136
, pp. 249-253
-
-
Nam, M.H.1
Hijikata, M.2
Tuan, L.A.3
Lien, L.T.4
-
30
-
-
0033913365
-
Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings
-
Wu CL, Shu SG, Zielenski J, Chiang CD, et al. Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings. J Formos Med Assoc 2000;99:564-567.
-
(2000)
J Formos Med Assoc
, vol.99
, pp. 564-567
-
-
Wu, C.L.1
Shu, S.G.2
Zielenski, J.3
Chiang, C.D.4
-
31
-
-
0142094694
-
Attitudinal barriers to delivery of race-targeted pharmacogenomics among informed lay persons
-
Condit C, Templeton A, Bates BR, Bevan JL, et al. Attitudinal barriers to delivery of race-targeted pharmacogenomics among informed lay persons. Genet Med 2003;5:385-392.
-
(2003)
Genet Med
, vol.5
, pp. 385-392
-
-
Condit, C.1
Templeton, A.2
Bates, B.R.3
Bevan, J.L.4
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