-
1
-
-
0000412801
-
Cystic fibrosis
-
Edited by DL Rimoin, JM Lonnor, R Pyeritz, BR Kurt, London, Churchill Livingstone
-
Cutting GR: Cystic fibrosis. Principles and Practice of Medical Genetics, vol 2. Edited by DL Rimoin, JM Lonnor, R Pyeritz, BR Kurt, London, Churchill Livingstone, 2002, pp 2685-2717
-
(2002)
Principles and Practice of Medical Genetics
, vol.2
, pp. 2685-2717
-
-
Cutting, G.R.1
-
2
-
-
20144380434
-
Diagnosis and management of cystic fibrosis
-
Smyth R: Diagnosis and management of cystic fibrosis. Arch Dis Child Educ Proct Ed 2005, 90:1-6
-
(2005)
Arch Dis Child Educ Proct Ed
, vol.90
, pp. 1-6
-
-
Smyth, R.1
-
3
-
-
9244263870
-
-
ed 14. Philadelphia, PA, WB Saunders Co
-
Behrman RE: Nelson Textbook of Pediatrics, ed 14. Philadelphia, PA, WB Saunders Co., 1992, pp 1106-1116
-
(1992)
Nelson Textbook of Pediatrics
, pp. 1106-1116
-
-
Behrman, R.E.1
-
4
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
Grody WW, Cutting GR, Klinger KW, Richards CS, Watson M, Desnick RJ: 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
Watson, M.5
Desnick, R.J.6
-
5
-
-
0004015177
-
-
American College of Obstetrics and Gynecology and American College of Medical Genetics: American College of Obstetrics and Gynecology, Washington, DC
-
American College of Obstetrics and Gynecology and American College of Medical Genetics: Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. American College of Obstetrics and Gynecology, Washington, DC, 2001
-
(2001)
Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines
-
-
-
6
-
-
0036511852
-
Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians
-
Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC: Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med 2002, 4:90-94
-
(2002)
Genet Med
, vol.4
, pp. 90-94
-
-
Palomaki, G.E.1
Haddow, J.E.2
Bradley, L.A.3
FitzSimmons, S.C.4
-
7
-
-
85030603910
-
-
Hospital for Sick Children, Toronto: Cystic Fibrosis Mutation Database
-
Hospital for Sick Children, Toronto: Cystic Fibrosis Mutation Database, http://www.genet.sickkids.on.ca/cftr/
-
-
-
-
8
-
-
0036654506
-
Cystic fibrosis screening using the college panel: Platform comparison and lessons learned from the first 20,000 samples
-
Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B, Entwistle T, Sun W: Cystic fibrosis screening using the college panel: platform comparison and lessons learned from the first 20,000 samples. Genet Med 2002, 4:289-296
-
(2002)
Genet Med
, vol.4
, pp. 289-296
-
-
Strom, C.M.1
Huang, D.2
Buller, A.3
Redman, J.4
Crossley, B.5
Anderson, B.6
Entwistle, T.7
Sun, W.8
-
9
-
-
0036725869
-
The l148T allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis
-
Rohlfs EM, Zhou Z, Sugarman EA, Heim RA, Pace RG, Knowles MR, Siverman L, Alitto BA: The l148T allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med 2002, 319-323
-
(2002)
Genet Med
, pp. 319-323
-
-
Rohlfs, E.M.1
Zhou, Z.2
Sugarman, E.A.3
Heim, R.A.4
Pace, R.G.5
Knowles, M.R.6
Siverman, L.7
Alitto, B.A.8
-
10
-
-
1942476884
-
Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for l158T
-
Buller A, Olson S, Redman J, Strom CM: Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for l158T. Genet Med 2004, 6:108-109
-
(2004)
Genet Med
, vol.6
, pp. 108-109
-
-
Buller, A.1
Olson, S.2
Redman, J.3
Strom, C.M.4
-
11
-
-
0037676283
-
Cystic fibrosis carrier screening: Issues in implementation
-
Watson MS, Desnick RJ, Grody W, Mennuti MT, Popovich BW, Richards S: Cystic fibrosis carrier screening: issues in implementation. Genet Med 2002, 4:407-409
-
(2002)
Genet Med
, vol.4
, pp. 407-409
-
-
Watson, M.S.1
Desnick, R.J.2
Grody, W.3
Mennuti, M.T.4
Popovich, B.W.5
Richards, S.6
-
12
-
-
2642540140
-
Cystic fibrosis screening: Lessons learned from the first 320,000 patients
-
Strom CM, Crossley B, Redman JB, Buller A, Quan F, Peng M, McGinniss M, Sun W: Cystic fibrosis screening: lessons learned from the first 320,000 patients. Genet Med 2004, 6:145-152
-
(2004)
Genet Med
, vol.6
, pp. 145-152
-
-
Strom, C.M.1
Crossley, B.2
Redman, J.B.3
Buller, A.4
Quan, F.5
Peng, M.6
McGinniss, M.7
Sun, W.8
-
13
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of the American College of Medical Genetics Mutation Panel
-
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki G, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards S, Witt DR, Grody W: Cystic fibrosis population carrier screening: 2004 revision of the American College of Medical Genetics Mutation Panel. Genet Med 2004, 6:387-391
-
(2004)
Genet Med
, vol.6
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
Driscoll, D.A.4
Klinger, K.5
Mennuti, M.6
Palomaki, G.7
Popovich, B.W.8
Pratt, V.M.9
Rohlfs, E.M.10
Strom, C.M.11
Richards, S.12
Witt, D.R.13
Grody, W.14
-
14
-
-
17044433023
-
Mutation detection, interpretation and application in the clinical laboratory setting
-
Strom CM: Mutation detection, interpretation and application in the clinical laboratory setting. Mutat Res 2005, 573:160-167
-
(2005)
Mutat Res
, vol.573
, pp. 160-167
-
-
Strom, C.M.1
-
15
-
-
11144353926
-
Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting
-
Strom CM, Clark DD, Hantash FM, Maul D, Anderson B, Traul D, Huang D, Rea L, Tubman CC, Garcia R, Hess P, Wang H, Crossley B, Woodruff E, Chen R, Killeen M, Sun W, Beer J, Avens H, Polisky B, Jenison RD: Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting. Clin Chem 2004, 50:836-845
-
(2004)
Clin Chem
, vol.50
, pp. 836-845
-
-
Strom, C.M.1
Clark, D.D.2
Hantash, F.M.3
Maul, D.4
Anderson, B.5
Traul, D.6
Huang, D.7
Rea, L.8
Tubman, C.C.9
Garcia, R.10
Hess, P.11
Wang, H.12
Crossley, B.13
Woodruff, E.14
Chen, R.15
Killeen, M.16
Sun, W.17
Beer, J.18
Avens, H.19
Polisky, B.20
Jenison, R.D.21
more..
-
16
-
-
28644448660
-
Technical validation of a multiplex platform to detect 30 mutations in 8 genetic diseases prevalent in individuals of Ashkenazi Jewish descent
-
Strom CM, Janeczko RA, Anderson B, Redman J, Quan F, Buller A, McGinniss M, Sun W: Technical validation of a multiplex platform to detect 30 mutations in 8 genetic diseases prevalent in individuals of Ashkenazi Jewish descent. Genet Med 2005, 7:633-639
-
(2005)
Genet Med
, vol.7
, pp. 633-639
-
-
Strom, C.M.1
Janeczko, R.A.2
Anderson, B.3
Redman, J.4
Quan, F.5
Buller, A.6
McGinniss, M.7
Sun, W.8
|