Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening

Human Mutation - Tập 19 Số 6 - Trang 575-606 - 2002
Joseph L. Bobadilla1, Milan Maçek2, Jason P. Fine3, Philip M. Farrell4
1Department of Pediatrics, University of Wisconsin, Madison, Wisconsin USA
2Institute of Biology and Medical Genetics‐Cystic Fibrosis Center, Charles University, Prague, Czech Republic
3Department of Biostatistics & Medical Informatics, University of Wisconsin, Madison, Wisconsin
4Department of Pediatrics, University of Wisconsin, Madison, Wisconsin

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Tài liệu tham khảo

Allen, 1996, Adv Pediatr, 43, 231, 10.1016/S0065-3101(24)00075-6

Angelicheva, 1997, Hum Genet, 99, 513, 10.1007/s004390050398

Banjar, 1999, Ann Trop Paediatr, 19, 69, 10.1080/02724939992671

Bayleran, 1996, Hum Genet, 98, 207, 10.1007/s004390050192

Bernardino, 2000, Genet Test, 4, 69, 10.1089/109065700316516

Bonizzato, 1995, Hum Genet, 95, 397, 10.1007/BF00208963

Cabello, 1999, Hum Biol, 71, 189

Cabello, 2001, Hum Biology, 73, 403, 10.1353/hub.2001.0031

Carles, 1996, J Med Genet, 33, 802, 10.1136/jmg.33.9.802

Cartault, 1996, Clin Genet, 54, 437

Casals, 1993, Hum Genet, 91, 66, 10.1007/BF00230225

Casals, 1997, Hum Genet, 101, 365, 10.1007/s004390050643

Cashman, 1995, Hum Hered, 45, 6, 10.1159/000154249

Castaldo, 1996, J Med Genet, 33, 475, 10.1136/jmg.33.6.475

Castaldo, 1999, Clin Chem, 45, 957, 10.1093/clinchem/45.7.957

Cheadle, 1993, Hum Molec Genet, 2, 1551, 10.1093/hmg/2.10.1551

Chertkoff, 1997, Clin Genet, 51, 43, 10.1111/j.1399-0004.1997.tb02413.x

Chevalier-Porst, 1994, J Med Genet, 31, 541, 10.1136/jmg.31.7.541

Chill�n, 1994, Hum Genet, 93, 447

Claustres, 1993, Hum Molec Genet, 2, 1209, 10.1093/hmg/2.8.1209

Claustres, 2000, Hum Mutat, 16, 143, 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J

Collee, 1998, Hum Genet, 102, 587, 10.1007/s004390050745

Cuppens, 1993, Genomics, 18, 693, 10.1016/S0888-7543(05)80376-3

Cystic Fibrosis Foundation. 1998. Patient registry, 1997: annual data report. Bethesda MD: Cystic Fibrosis Foundation. p. 3.

Cystic Fibrosis Genetic Analysis Consortium (CFGAC), 1994, Hum Mutat, 4, 167, 10.1002/humu.1380040302

Cystic Fibrosis Genetic Analysis Consortium (CFGAC). 2000.www.genet.sickkids.on.ca/cftr/.

Dabovic, 1992, Hum Genet, 88, 699, 10.1007/BF02265302

De Braekeleer, 1998, Clin Genet, 53, 44, 10.1034/j.1399-0004.1998.531530108.x

Desgeorges, 1997, Hum Genet, 100, 279, 10.1007/s004390050505

D�rk, 1992, Hum Genet, 90, 279

D�rk, 1994, Hum Genet, 94, 542

D�rk, 1998, Am J Hum Genet, 63, 656, 10.1086/301950

D�rk, 2000, Hum Genet, 106, 259, 10.1007/s004390000246

El-Harith, 1997, J Med Genet, 34, 996, 10.1136/jmg.34.12.996

Estivill, 1997, Hum Mutat, 10, 135, 10.1002/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO;2-J

1990, Hum Genet, 85, 436, 10.1007/BF02428304

Farrell, 2000, Adv Ped, 49, 79, 10.1016/S0065-3101(23)00095-6

F�rec, 1992, Nat Genet, 1, 188, 10.1038/ng0692-188

Friedman, 1998, Am J Hum Genet, 62, 195, 10.1086/301681

Frossard, 1998, Hum Mutat, 1, 412, 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU15>3.0.CO;2-O

Frossard, 1999, Clin Genet, 55, 496, 10.1034/j.1399-0004.1999.550618.x

Gan, 1995, NEJM, 333, 95, 10.1056/NEJM199507133330204

Gasparini, 1999, L Med Screen, 3, 67, 10.1136/jms.6.2.67

Gilfillan, 1998, J Med Genet, 35, 122, 10.1136/jmg.35.2.122

Goldman, 2001, Clin Genet, 59, 37, 10.1034/j.1399-0004.2001.590106.x

Grebe, 1994, Am J Hum Genet, 54, 443

Gregg, 1997, Pediatrics, 99, 819, 10.1542/peds.99.6.819

Grody, 2001, Genet Med, 3, 149, 10.1097/00125817-200103000-00010

Guilloud-Bataille, 2000, Hum Hered, 50, 142, 10.1159/000022903

Hammond, 1991, N Engl J Med, 325, 769, 10.1056/NEJM199109123251104

Heim, 2001, Genet Med, 3, 168, 10.1097/00125817-200105000-00004

Hergersberg, 1997, Hum Genet, 100, 220, 10.1007/s004390050494

1993. The world of the Celts. London: Thames and Hudson, Ltd.

Kambouris, 1997, Institut Paster del Tunis, 74, 93

Kanavakis, 1995, Hum Genet, 96, 364, 10.1007/BF00210426

Kere, 1994, Hum Genet, 93, 162, 10.1007/BF00210603

Kerem, 1989, Science, 245, 1073, 10.1126/science.2570460

Kerem, 1995, Hum Genet, 96, 193, 10.1007/BF00207378

Klaassen, 1998, J Med Screen, 5, 16, 10.1136/jms.5.1.16

Kosorok, 1996, Stat Med, 15, 449, 10.1002/(SICI)1097-0258(19960315)15:5<449::AID-SIM173>3.0.CO;2-X

Kristidis, 1992, Am J Hum Genet, 50, 1178

Kulczycki, 1974, AmJ Dis Child, 127, 64, 10.1001/archpedi.1974.02110200066009

Liang, 1998, Mol Genet Metab, 64, 213, 10.1006/mgme.1998.2710

Loirat, 1997, Hum Biol, 69, 419

Loumi, 1999, Hum Hered, 49, 81, 10.1159/000022849

Lucotte, 1995, Hum Biol, 67, 797

Macek, 1991, Am J Hum Genet, 49, a474

Macek, 1997, Am J Hum Genet, 60, 1122

Macek, 2002, Eur J Hum Genet (in press)

Malone, 1998, Hum Mutat, 11, 152, 10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L

Mercier, 1992, Am J Hum Genet, 51, a340

Mercier, 1993, Hum Mutat, 2, 16, 10.1002/humu.1380020104

Mercier, 1994, Hum Genet, 94, 629, 10.1007/BF00206956

M�relle, 2001, Eur Respir J, 18, 306, 10.1183/09031936.01.00080101

Messaoud, 1996, Euro J Hum Genet, 4, 20, 10.1159/000472165

Morales, 1999, Braz J Med Biol Res, 32, 1021, 10.1590/S0100-879X1999000800013

Morral, 1994, Nat Genet, 7, 169, 10.1038/ng0694-169

Onay, 1998, Hum Genet, 102, 224, 10.1007/s004390050683

Onay, 2001, Hum Biology, 73, 191, 10.1353/hub.2001.0022

Orgad, 2001, Genet Testing, 5, 47, 10.1089/109065701750168725

Orozco, 1993, J Med Genet, 30, 501, 10.1136/jmg.30.6.501

Orozco, 2000, Hum Genet, 106, 360, 10.1007/s004390051051

Parizotto, 1997, J Med Genet, 34, 877, 10.1136/jmg.34.10.877

Paz-y-Mino, 1999, Hum Mutat, 14, 348, 10.1002/(SICI)1098-1004(199910)14:4<348::AID-HUMU11>3.0.CO;2-8

Petreska, 1998, Clin Genet, 54, 203, 10.1111/j.1399-0004.1998.tb04285.x

Popa, 1997, Eur J Pediatr, 156, 212, 10.1007/s004310050586

Raskin, 1999, Hum Biol, 71, 111

Restrepo, 2000, Am J Med Genet, 91, 277, 10.1002/(SICI)1096-8628(20000410)91:4<277::AID-AJMG7>3.0.CO;2-A

Riordan, 1989, Science, 245, 1066, 10.1126/science.2475911

Rios, 1994, Hum Genet, 94, 291, 10.1007/BF00208286

Romeo, 1989, Hum Genet, 84, 1, 10.1007/BF00210660

Rommens, 1989, Science, 245, 1059, 10.1126/science.2772657

Rozen, 1992, Am J Med Genet, 42, 360, 10.1002/ajmg.1320420322

Schaedel, 1999, Clin Genet, 56, 318, 10.1034/j.1399-0004.1999.560410.x

Schwartz, 1994, Hum Genet, 93, 157, 10.1007/BF00210602

Schwartz, 1995a, Hum Genet, 95, 703, 10.1007/BF00209491

Schwartz, 1995b, Hum Mutat, 6, 326, 10.1002/humu.1380060406

Scotet, 2000, Lancet, 356, 789, 10.1016/S0140-6736(00)02652-0

Serre, 1990, Hum Genet, 84, 449, 10.1007/BF00195818

Shoshani, 1992, Am J Hum Genet, 50, 222

Shrimpton, 1991, J Med Genet, 28, 317, 10.1136/jmg.28.5.317

Stuhrmann, 1997, Clin Genet, 52, 240, 10.1111/j.1399-0004.1997.tb02555.x

Suwanjutha, 1998, Hum Mutat, 12, 361

T�mmler, 1996, Hum Genet, 97, 727, 10.1007/BF02346181

Tzetis, 1997, Hum Genet, 99, 121

US Census Bureau. 1990. Race and Hispanic origin population density of the United States: 1990.www.census.gov/geo/www/mapGallery/RHOriginPD-1990.html.

US Census Bureau. 2000a. American fact finder: thematic maps section. http://factfinder.census.gov/.

US Census Bureau. 2000b. Census of population and housing: 2000. www.census.gov/prod/cen2000/index.html.

Villalobos-Torres, 1997, Am J Med Genet, 69, 380, 10.1002/(SICI)1096-8628(19970414)69:4<380::AID-AJMG8>3.0.CO;2-P

Waters, 1999, Arch Dis Child Fetal Neonatal Ed, 80, f1, 10.1136/fn.80.1.F1

1995. Cystic fibrosis. The metabolic and molecular bases of inherited disease. 17th ed. New York: McGraw-Hill. p 3799-3876.

Wilcken, 1995, J Pediatr, 127, 965, 10.1016/S0022-3476(95)70040-4

Wine, 2001, Pediatrics, 107, 280, 10.1542/peds.107.2.280

Yee, 2000, Hum Mutat, 15, 208, 10.1002/(SICI)1098-1004(200002)15:2<208::AID-HUMU17>3.0.CO;2-6

Yilmaz, 1995, Hum Hered, 45, 175, 10.1159/000154281

Zielenski, 1993, Am J Hum Genet, 52, 609

Zielenski, 1995, Ann Rev Genet, 29, 777, 10.1146/annurev.ge.29.120195.004021