SEARCH

SEARCH BY CITATION

REFERENCES

  • Allen DB, Farrell PM. 1996. Newborn screening. Adv Pediatr 43:231270.
  • Angelicheva D, Calafell F, Savov A, Jordanova A, Kufardjieva A, Galeva I, Nedkova V, Ianova T, Yankova P, Konstantinova D, Genev E, Kalaydjieva L. 1997. Cystic fibrosis mutations and associated haplotypes in Bulgaria—a comparative population genetic study. Hum Genet 99:513520.
  • Banjar H, Kambouris M, Meyer BF, Al-Mehaidib A, Mogarri I. 1999. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. Ann Trop Paediatr 19:6973.
  • Bayleran JK, Yan H, Hopper CA, Simpson EM. 1996. Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry. Hum Genet 98:207209.
  • Bernardino ALF, Ferri A, Passos-Bueno MR, Kim CEA, Nakaie CMA, Gomes CET, Damaceno N, Zatz M. 2000. Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. Genet Test 4:6974.
  • Bonizzato A, Bisceglia L, Marigo C, Nicolis E, Bombieri C, Castellani C, Borgo G, Zelante L, Mastella G, Cabrini G, Gasparini P, Pignatti PF. 1995. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-East Italy: identification of 90% of the mutations. Hum Genet 95:397402.
  • Cabello GMK, Moreira AF, Horovitz D, Correia P, Santa Rosa A, Llerena Jr J, Greg J, Grody WW, Degrave WM, Fernandes O, Cabello PH. 1999. Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil. Hum Biol 71:189196.
  • Cabello GMK, Cabello PH, Llerena Jr J, Fernandes O, Harris A. 2001. The 3120+1G[RIGHTWARDS ARROW]A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients. Hum Biology 73:403409.
  • Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C, Kitazos CA, de Ravel TJL, Westwood ART, Claustres M, Ramsay M. 1996. First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J Med Genet 33:802804.
  • Cartault F, Steffann J, Vidaud D, Bousquet S, Lesure F, Renouil M, McDonell N, Feingold J, Beldjord C, Bienvenu T. 1996. Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L). Clin Genet 54:437439.
  • Casals T, Nunes V, Palacio A, Giménez J, Gaona A, Ibáñez N, Morral N, Estivill X. 1993. Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Hum Genet 91:6670.
  • Casals T, Ramos MD, Giménez J, Larriba S, Nunes V, Estivill X. 1997. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Hum Genet 101:365370.
  • Cashman SM, Patino A, Martinez A, Garcia-Delgado M, Miedzbrodzka Z, Schwarz M, Shrimpton A, Ferec C, Ranguenes O, Macek M. 1995. Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients. Hum Hered 45:612.
  • Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Slavatore F. 1996. Molecular epidemiology of cystic fibrosis mutations and haplotype in southern Italy evaluated with an improved semiautomatic robotic procedure. J Med Genet 33:475479.
  • Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F. 1999. Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. Clin Chem 45:957962.
  • Cheadle JP, Goodchild MC, Meredith Al. 1993. Direct sequencing of the complete CFTR gene: the molecular characterization of 99. 5% of CF chromosomes in Wales. Hum Molec Genet 2:15511556.
  • Chertkoff L, Visich A, Bienvenu T, Grenoville M, Segal E, Carniglia L, Kaplan JC, Barreiro C. 1997. Spectrum of CFTR mutations in Argentine cystic fibrosis patients. Clin Genet 51:4347.
  • Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D. 1994. Mutation analysis in 600 French cystic fibrosis patients. J Med Genet 31:541544.
  • Chillón M, Casals T, Giménez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V. 1994. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutation account for only 78% of CF chromosomes. Hum Genet 93:447451.
  • Claustres M, Lassel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J. 1993. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91. 2% of the mutant alleles in Southern France. Hum Molec Genet 2:12091213.
  • Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazenueve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge M, Monnier N, Malzac P, Mittre H, Chomel J, Bonnefont J, Iron A, Chery M, Des Georges M. 2000. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 16:143156.
  • Collee JM, de Vries HG, Scheffer H, Halley DJJ, ten Kate LP. 1998. Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country. Hum Genet 102:587590.
  • Cuppens H, Marynen P, De Boeck C, Cassiman JJ. 1993. Detection of 98. 5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics 18:693697.
  • Cystic Fibrosis Foundation. 1998. Patient registry, 1997: annual data report. Bethesda MD: Cystic Fibrosis Foundation. p. 3.
  • Cystic Fibrosis Genetic Analysis Consortium (CFGAC). 1994. Population variation of common cystic fibrosis mutations. Hum Mutat 4:167177.
  • Cystic Fibrosis Genetic Analysis Consortium (CFGAC). 2000.www.genet.sickkids.on.ca/cftr/.
  • Dabovic BB, Radojkovic D, Minic P, Savic J, Savic A. 1992. Frequency of the ΔF508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients. Hum Genet 88:699700.
  • De Braekeleer M, Mari C, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, Férec C. 1998. Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada). Clin Genet 53:4446.
  • Desgeorges M, Mégarbané A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M. 1997. Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. Hum Genet 100:279283.
  • Dörk T, Kälin N, Stuhrmann M, Schmidtke J, Tümmler B. 1992. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Hum Genet 90:279284.
  • Dörk T, Mekus F, Schmidt K, Boßhammer J, Fislage R, Heuer T, Dziadek V, Neuman T, Kälin N, Wulbrand U, Wulf B, von der Hardt H, Maaß G, Tümmler B. 1994. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet 94:542553.
  • Dörk T, El-Harith EA, Stuhrmann M, Macek Jr M, Egan M, Cutting GR, Tzetis M, Kanavakas E, Carles S, Claustres M, Padoa C, Ramsay M, Schmidke J. 1998. Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G[RIGHTWARDS ARROW]A in diverse populations. Am J Hum Genet 63:656662.
  • Dörk T, Macek Jr M, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek Sr M, Várová V, Zemková D, Ginter E, Petrova N, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S, Kraus C, Thamm B, Nechiporenko M, Livshits L, Mosse N, Tsukerman G, Kadási L, Ravnik-Glavac M, Glavac D, Komel R, Vouk K, Kucinskas V, Krumina A, Teder M, Kocheva S, Efremov GD, Onay T, Kirdar B, Malone G, Schwarz M, Zhou Z, Friedman KJ, Carles S, Claustres M, Bozon D, Verlingue C, Férec C, Tzets M, Kanavakis E, Cuppens H, Bombieri C, Pignatti PF, Sangiuolo F, Jordanova A, Kusic J, Radojkovic D, Sertic J, Richter D, Rukavina AS, Bjorck E, Strandvik B, Cardoso H, Montgomery M, Nakielna B, Hughes D, Estivill X, Aznarez I, Tullis E, Tsui LC, Zielenski J. 2000. Characterization of a novel 21kb deletion, CFTRdele2,3(21 kb), in the CFTR gene a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 106:259268.
  • El-Harith EA, Dörk T, Stuhrmann M, Abu-Srair H, Al-Shahri A, Keller KM, Lentze MJ, Schmidtke J. 1997. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. J Med Genet 34:996999.
  • Estivill X, Bancells C, Ramos C, Biomed CF Mutation Analysis Consortium. 1997. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat 10:135154.
  • European Working Group on CF Genetics. 1990. Gradient of distribution in Europe of the major CF mutation and its associated haplotypes. Hum Genet 85:436445.
  • Farrell PM. 2000. Improving the health of patients with cystic fibrosis through newborn screening. Adv Ped 49:79115.
  • Férec C, Audrezet MP, Mercier B, Guillermit H, Moullier P, Quere I, Verlingue C. 1992. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1:188191.
  • Friedman KJ, Leigh MW, Czarnecki P, Feldman GL. 1998. Cystic fibrosis transmembrane-conductance regulator mutations among African Americans. Am J Hum Genet 62:195196.
  • Frossard PM, Girodon E, Dawson KP, Ghanem N, Plassa F, Lestringant GG, Gossens M. 1998. Identification of cystic fibrosis mutations in the United Arab Emirates. Hum Mutat 1:412413.
  • Frossard PM, Lestringant G, Girodon E, Goosens M, Dawson KP. 1999. Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening. Clin Genet 55:496497.
  • Gan KH, Veeze HJ, Van Den Ouweland AMW, Halley DJJ, Scheffer H, Van Der Hout A, Overbeek SE, De Jongste JC, Bakker W, Heijerman HGM. 1995. A cystic fibrosis mutation associated with mild lung disease. NEJM 333:9599.
  • Gasparini P, Arbustini E, Restagno G, Zelante L, Stanziale P, Gatta L, Sbaiz L, Sedita AM, Banchieri N, Sapone L, Fiorucci GC, Brison E, Shulse E, Rappaport E, Fortina P. 1999. Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis. L Med Screen 3:6769.
  • Gilfillan A, Warner JP, Kirk JM, Marshall T, Greening A, Ho LP, Hargreave T, Stack B, McIntyre D, Davidson R, Dean JCS, Middleton W, Brock DJH. 1998. P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. J Med Genet 35:122125.
  • Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, Ramsay M. 2001. The molecular basis of cystic fibrosis in South Africa. Clin Genet 59:3741.
  • Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, Hernried LS, Murphy S, Harwood IR, Accurso FJ, Jain KD. 1994. Genetic analysis of Hispanic individuals with cystic fibrosis. Am J Hum Genet 54:443446.
  • Gregg RG, Simantel A, Farrell PM, Koscik RE, Kosorok MR, Laxova A, Laessig RH, Hoffman GL, Hassemer DJ, Mischler EH, Splaingard M. 1997. Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods. Pediatrics 99:819824.
  • Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. 2001. Laboratory standards and guidelines for population based cystic fibrosis screening. Genet Med 3:149154.
  • Guilloud-Bataille M, De Crozes D, Rault G, Degioanni A, Feingold J, The Clinical Centers of the CF French Registry. 2000. Cystic fibrosis mutations: report from the French registry. Hum Hered 50:142145.
  • Hammond KB, Abman SH, Sokol RJ, Accurso FK. 1991. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med 325:769774.
  • Heim R, Sugarman MS, Allitto BA. 2001. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med 3:168176.
  • Hergersberg M, Balakrishnan J, Bettecken T, Bettecken T, Chevalier-Porst F, Brägger C, Burger R, Liechti-Gallati S, Moris M, Schorderet D, Thonney F, Moser H, Malik N. 1997. A new mutation, 3905insT, accounts for 4. 8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype. Hum Genet 100:220223.
  • James S. 1993. The world of the Celts. London: Thames and Hudson, Ltd.
  • Kambouris M, Banjar H, Moggari I, Al Hamed MH, El Naser H, Meyer BF. 1997. Identification of novel mutations in the CFTR gene causing cystic fibrosis (CF) in Arab populations. Institut Paster del Tunis 74:9394.
  • Kanavakis E, Tzetis M, Antoniadi T, Traeger-Syodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C. 1995. Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74. 5% of CF alleles including one novel mutation. Hum Genet 96:364366.
  • Kere J, Estivill X, Chillón M, Morral N, Nunes V, Norio R, Savilahti E, de la Chillón M. 1994. Cystic fibrosis in a low-incidence population: two major mutations in Finland. Hum Genet 93:162166.
  • Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. 1989. Identification of the cystic fibrosis gene: genetic analysis. Science 245:10731080.
  • Kerem E, Kalman Y, Yahav Y, Shoshani T, Abeliovich C, Szeinberg A, Rivlin J, Blau H, Tal A, Ben-Tur L, Spinger C, Augarten A, Godfrey S, Lerer I, Branski D, Friedman M, Kerem B. 1995. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum Genet 96:193197.
  • Klaassen T, Teder M, Viikmaa M, Metspala A. 1998. Neonatal screening for the cystic fibrosis main mutation ΔF508 in Estonia. J Med Screen 5:1619.
  • Kosorok MR, Wei W, Farrel PM. 1996. The incidence of cystic fibrosis. Stat Med 15:449462.
  • Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P. 1992. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 50:11781184.
  • Kulczycki LL, Schauf V. 1974. Cystic fibrosis in blacks in Washington, DC. AmJ Dis Child 127:6467.
  • Liang MH, Wertz KK, Bowman CM, Hsu E, Shapiro B, Wong LC. 1998. 3849+10kbC[RIGHTWARDS ARROW]T splicing mutation in Hispanic CF patients. Mol Genet Metab 64:213216.
  • Loirat F, Hazout S, Lucotte G. 1997. G542X as a probable Phoenician cystic fibrosis mutation. Hum Biol 69:419425.
  • Loumi O, Baghriche M, Delpech M, Kaplan JC, Bienvenu T. 1999. Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families. Hum Hered 49:8184.
  • Lucotte G, Hazout S, De Braekeleer M. 1995. Complete map of cystic fibrosis mutation DF508 frequencies in Western Europe and correlation between mutation frequencies and incidence of disease. Hum Biol 67:797803.
  • Macek Jr M, Macek M, Serre JL, Vavrova V, Burger J, Reis A, Schmidke J, Sperling K, Cutting G. 1991. Population study of CFTR gene mutations in Bohemia and Moravia: hypothesis on the historical spread of G551D and deltaF508 in Europe. Am J Hum Genet 49:A474, A2703.
  • Macek Jr M, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, Friedman KJ, Knowles MR, Rosenstein BJ, Cutting GR. 1997. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 60:11221127.
  • Macek Jr M, et al. 2002. Eur J Hum Genet (in press) .
  • Malone G, Haworth A, Schwartz MJ, Cuppens H, Super M. 1998. Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C). Hum Mutat 11:152157.
  • Mercier B, Mac Clure M, Grebe T, Doane WW, Audrézet MP, Quéré I, Kaplan GC, Férec C. 1992. Screening for CFTR gene mutations in a Southwest American Indian population. Am J Hum Genet 51(suppl):A340; 1341.
  • Mercier B, Lissens W, Audrezet MP, Bonuelle M, Liebaers I, Ferec C. 1993. Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations. Hum Mutat 2:1620.
  • Mercier B, Raguénès O, Estivill X, Morral N, Kaplan GC, McClure M, Grebe TA, Kessler D, Pignatti PF, Marigo C, Bombieri C, Audrezet MP, Verlingue C, Férec C. 1994. Complete detection of mutations in cystic fibrosis patients of Native American origin. Hum Genet 94:629632.
  • Mérelle ME, Schouten JP, Gerritsen J, Dankert-Roelse JE. 2001. Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients. Eur Respir J 18:306315.
  • Messaoud T, Verlingue C, Denamur E, Pascaud O, Quéré I, Fattoum S, Elion J, Férec C. 1996. Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Euro J Hum Genet 4:2024.
  • Morales MM, Capella MAM, Lopes AG. 1999. Structure and function of the cystic fibrosis transmembrane conductance regulator. Braz J Med Biol Res 32:10211028.
  • Morral N, Bertranpetit J, Estivell X, Nunes V, Casals T, Giménez J, Reis A, Varon-Mateeva R, Macek Jr M, Kalaydjieva L, Angelcheva D, Dancheva R, Romeo G, Russo MP, Garnerone S, Restango G, Ferrari M, Magnani C, Claustres M, Desgeorges M, Schwarz M, Dallapiccola B, Novelli G, Férec C, de Arce M, Nemeti M, Kere J, Anvret M, Dahl N, Kadasi L. 1994. The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 7:169175.
  • Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B. 1998. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet 102:224230.
  • Onay T, Zielenski J, Topaloglu O, Gokgoz N, Kayseril H, Yukselapak M, Camcioglu Y, Cokugras H, Akcakaya N, Tsu LC, Kirdar B. 2001. Cystic fibrosis mutations as associated haplotypes in Turkish cystic fibrosis patients. Hum Biology 73:191203.
  • Orgad S, Neumann S, Loewenthal R, Netanelov-Shapira I, Gazit E. 2001. Prevalence of cystic fibrosis mutations in Israeli jews. Genet Testing 5:4752.
  • Orozco L, Salcedo M, Lezana JL, Chvez M, Valdez H, Moreno M, Carnevale A. 1993. Frequency of ΔF508 in a Mexican sample of cystic fibrosis patients. J Med Genet 30:501502.
  • Orozco L, Velázquez R, Zielenski J, Tsui LC, Chávez M, Lezana JL, Saldaña Y, Hernández E, Carnevale A. 2000. Spectrum of CFTR mutation in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G[RIGHTWARDS ARROW]A). Hum Genet 106:360365.
  • Parizotto EA, Bertuzzo CS. 1997. Molecular characterization of cystic fibrosis patients in the state of São Paulo (Brazil). J Med Genet 34:877.
  • Paz-y-Mino C, Pérez JC, Burgos R, Dávalos Ma V, Leone PE. 1999. The ΔF508 mutation in Ecuador, South America. Hum Mutat 14:348350.
  • Petreska L, Koceva S, Plaseska D, Chernick M, Gordova-Muratovska A, Fustic S, Nestorov R, Nestorov R, Efremov GD. 1998. Molecular basis of cystic fibrosis in the Republic of Macedonia. Clin Genet 54:203209.
  • Popa I, Pop L, Popa Z, Schwarz MJ, Hambleton G, Malone GM, Haworth A, Super M. 1997. Cystic fibrosis mutations in Romania. Eur J Pediatr 156:212213.
  • Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Periera L, Faucz F, Gabardo J, Culpi L. 1999. Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil. Hum Biol 71:111121.
  • Restrepo CM, Pineda L, Rojas-Martínez A, Gutiérrez CA, Morales A, Gómez Y, Villalobos MC, Borjas L, Delgado W, Myers A, Barrera-Saldaña HA. 2000. CFTR mutations in three Latin American countries. Am J Med Genet 91:277279.
  • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielinski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi MC, Collins FS, Tsui LC. 1989. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:10661072.
  • Rios J, Orellana O, Aspillaga M, Avendano I, Largo I, Riveros N. 1994. CFTR mutations in Chilean cystic fibrosis patients. Hum Genet 94:291294.
  • Romeo G, Devoto M, Galietta LJV. 1989. Why is the cystic fibrosis gene so frequent? Hum Genet 84:15.
  • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins FS. 1989. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:10591065.
  • Rozen R, De Braekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, Aubin G, Simard F, Fujiwara TM, Morgan K. 1992. Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Am J Med Genet 42:360364.
  • Schaedel C, Hjelte L, de Monestrol I, Johannesson M, Kollberg H, Kornfält R, Holmberg L. 1999. Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. Clin Genet 56:318322.
  • Schwartz M, Anvret M, Claustres M, Geir Eiken H, Eiklid K, Schaedel C, Stolpe L, Tranebjærg L. 1994. 394delTT: a Nordic cystic fibrosis mutation. Hum Genet 93:157161.
  • Schwartz M, Sørensen N, Brandt NJ, Høgdall E, Holm T. 1995a. High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study. Hum Genet 95:703706.
  • Schwartz MJ, Malone GM, Haworth A, Cheadle JP, Meredith L, Gardner A, Sawyer IH, Connarty M, Dennis N, Seller A, Harris A, Taylor R, Dear S, Middleton-Price H, McMahon C, Mayall E, McMahon R, Barton DE, Giles M, Lindley V, Plaha DS, Price S, Sharif A, Cross GS, Dalton A, Taylor G, Wallace A, Tassabehji M, Whittaker JL, Butler R, Curtis A, Pinkett R, Gilfillan AJ, Brock DJH, Higgins GS, Lanyon G, Miedzybrodzka Z, Davidson M, Graham CA, Hill AJM. 1995b. Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories. Hum Mutat 6:326333.
  • Scotet V, De Braekeleer M, Roussey M, Rault G, Parent P, Dagorne M, Journel H, Lemoigne A, Codet J, Catheline M, David V, Chaventré A, Duguépéroux I, Verlingue C, Quéré I, Mercier B, Audrézet M, Férec C. 2000. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years’ experience and impact on prenatal diagnosis. Lancet 356:789794.
  • Serre JL, Simon-Bouy B, Mornet E, Jaume-Roig B, Bassopoulou A, Schwartz M, Taillandier A, Boué A. 1990. Studies of RFLP closely linked to the cystic fibrosis locus through Europe lead to new considerations in population genetics. Hum Genet 84:449454.
  • Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, Kerem B. 1992. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 50:222228.
  • Shrimpton AE, McIntosh I, Brock JH. 1991. The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counseling. J Med Genet 28:317321.
  • Stuhrmann M, Dörk T, Frühwirth M, Golla A, Skawran B, Antonon W, Ebhardt M, Loos A, Ellemunter H, Schmidtke J. 1997. Detection of 100% of the CFTR mutations in 63 families from Tyrol. Clin Genet 52:240246.
  • Suwanjutha S, Huang NH, Wattanasirichaigoon D, Sara T, Harris A, Macek Jr M. 1998. Case report of a Tai male cystic fibrosis patient with the 1998+1G[RIGHTWARDS ARROW]T splicing mutation in the CFTR gene: a review of East Asian cases. Hum Mutat 12:361.
  • Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schröder E, Claaß A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Linder M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X. 1996. Geographic distribution and origin of CFTR mutations in Germany. Hum Genet 97:727731.
  • Tzetis M, Kanavakis E, Antoniadi T, Doudounakis S, Adam G, Kattamis C. 1997. Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. Hum Genet 99:121125.
  • 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 C, Rojas-Martínez A, Villareal-Castellanos E, Cantú JM, Sánchez-Anxaldo FJ, Saiki RK, Barrera-Saldaña HA. 1997. Analysis of 16 cystic fibrosis mutations in Mexican patients. Am J Med Genet 69:380382.
  • Waters DL, Wilcken B, Irwig L, Van Asperen P, Mellis C, Simpson JM, Brown J, Gaskin KJ. 1999. Clinical outcomes of newborn screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 80:F1F7.
  • Welsh MJ, Tsui L, Boat TF, Beaudet AL. 1995. Cystic fibrosis. The metabolic and molecular bases of inherited disease. 17th ed. New York: McGraw-Hill. p 37993876.
  • Wilcken D, Wiley V, Sherry G, Bayliss U. 1995. Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1. 2 million babies. J Pediatr 127:965970.
  • Wine JJ, Kuo E, Hurlock G, Moss RB. 2001. Comprehensive mutation screening in a cystic fibrosis center. Pediatrics 107:280286.
  • Yee K, Robinson C, Hurlock G, Moss R, Wine JJ. 2000. Novel cystic fibrosis mutation L1093P: functional analysis and possible Native American origin. Hum Mutat 15:208.
  • Yilmaz E, Erdem H, Özgüç M, Coskun T, Özçelik U, Göçmem S, Özalp I. 1995. Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered 45:175177.
  • Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K. 1993. Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet 52:609615.
  • Zielenski J, Tsui LC. 1995. Cystic fibrosis: genotypic and phenotypic variations. Ann Rev Genet 29:777807.