Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/springer-journals/cystic-fibrosis-carrier-screening-effects-on-birth-prevalence-and-edDk3fppDx
References (28)
-
C. Bombieri, M. Claustres, K. Boeck, N. Derichs, J. Dodge, E. Girodon, I. Sermet, M. Schwarz, M. Tzetis, M. Wilschanski, C. Bareil, D. Bilton, C. Castellani, H. Cuppens, G. Cutting, P. Dřevínek, P. Farrell, J. Elborn, K. Jarvi, B. Kerem, E. Kerem, M. Knowles, M. Macek, A. Munck, D. Radojkovic, M. Seia, D. Sheppard, K. Southern, M. Stuhrmann, E. Tullis, J. Zieleński, P. Pignatti, C. Férec (2011)
Recommendations for the classification of diseases as CFTR-related disorders.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 10 Suppl 2
-
C. Castellani, M. Macek, J. Cassiman, A. Duff, J. Massie, L. Kate, D. Barton, G. Cutting, B. Dallapiccola, E. Dequeker, E. Girodon, W. Grody, E. Highsmith, H. Kääriäinen, S. Kruip, M. Morris, P. Pignatti, Ulrike Pypops, M. Schwarz, M. Soller, M. Stuhrman, H. Cuppens (2010)
Benchmarks for cystic fibrosis carrier screening: a European consensus document.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 9 3
-
M. Watson, G. Cutting, R. Desnick, D. Driscoll, K. Klinger, M. Mennuti, G. Palomaki, B. Popovich, V. Pratt, E. Rohlfs, Charles Strom, C. Richards, D. Witt, W. Grody (2004)
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panelGenetics in Medicine, 6
-
C. Strom, B. Crossley, Arlene Buller-Buerkle, Michael Jarvis, Franklin Quan, Mei Peng, K. Muralidharan, V. Pratt, J. Redman, Weimin Sun (2011)
Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysisGenetics in Medicine, 13
-
C. Castellani, K. Southern, K. Brownlee, Jeannette Roelse, A. Duff, Michael Farrell, A. Mehta, A. Munck, R. Pollitt, I. Sermet-Gaudelus, B. Wilcken, M. Ballmann, C. Corbetta, I. Monestrol, P. Farrell, M. Feilcke, C. Férec, S. Gartner, K. Gaskin, J. Hammermann, N. Kashirskaya, G. Loeber, M. Macek, G. Mehta, Andreas Reiman, P. Rizzotti, A. Sammon, D. Sands, A. Smyth, O. Sommerburg, T. Torresani, G. Travert, Annette Vernooij, S. Elborn (2009)
European best practice guidelines for cystic fibrosis neonatal screening.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 8 3
-
E. Sims, J. McCormick, G. Mehta, A. Mehta (2005)
Newborn screening for cystic fibrosis is associated with reduced treatment intensity.The Journal of pediatrics, 147 3
-
B. Efron, R. Tibshirani (1986)
Bootstrap Methods for Standard Errors, Confidence Intervals, and Other Measures of Statistical AccuracyStatistical Science, 1
-
S. Mayell, A. Munck, J. Craig, I. Sermet, K. Brownlee, M. Schwarz, C. Castellani, K. Southern, Balascakova Miroslava, Gabriel Bellon, Hopital Debrousse, France Lyon, Keith, Elinor Burrows, Andrew Bush, De Boeck, Kristiane, J. Dodge, Macek Milan, Quattrucci Serena, Reid Alastair, Renner Sabine, Southern Kevin, Schwarz Martin, Taccetti Giovanni, Weller Peter, W. Michael (2009)
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 8 1
-
E. Sims, M. Mugford, A. Clark, D. Aitken, J. McCormick, G. Mehta, A. Mehta (2007)
Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort studyThe Lancet, 369
-
H. Lai, Y. Cheng, P. Farrell (2005)
The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: evidence from the United States Cystic Fibrosis Foundation registry data.The Journal of pediatrics, 147 3 Suppl
-
P. Farrell, M. Kosorok, A. Laxova, Guanghong Shen, R. Koscik, Bruns Wt, Mark Splaingard, E. Mischler (1997)
Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.The New England journal of medicine, 337 14
-
J. Rommens, M. Drumm, G. Melmer, M. Dean, R. Rozmahel, J. Cole, D. Kennedy, N. Hidaka, M. Zsiga, M. Buchwald, J. Riordan, Lap-Chee Tsui (2008)
Identification of the Cystic Fibrosis Gene : Chromosome Walking and Jumping Author ( s ) : -
V. Scotet, B. Assael, I. Duguépéroux, A. Tamanini, M. Audrézet, C. Férec, C. Castellani (2008)
Time trends in birth incidence of cystic fibrosis in two European areas: data from newborn screening programs.The Journal of pediatrics, 152 1
-
C. Castellani, J. Massie (2014)
Newborn screening and carrier screening for cystic fibrosis: alternative or complementary?European Respiratory Journal, 43
-
(1996)
ACOG committee opinion. Chorionic villus sampling. American College of Obstetricians and Gynecologists Committee on Genetics.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics, 52 2
-
L. Shulman (2010)
Association Between Carrier Screening and Incidence of Cystic FibrosisYearbook of Obstetrics, Gynecology and Women's Health, 2010
-
P. Sosnay, K. Siklosi, F. Goor, Kyle Kaniecki, Haihui Yu, N. Sharma, A. Ramalho, M. Amaral, R. Dorfman, J. Zieleński, David Masica, R. Karchin, Linda Millen, P. Thomas, G. Patrinos, M. Corey, M. Lewis, J. Rommens, C. Castellani, C. Penland, G. Cutting (2013)
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator geneNature genetics, 45
-
A. Smyth, S. Bell, Snezana Bojcin, M. Bryon, A. Duff, P. Flume, N. Kashirskaya, A. Munck, F. Ratjen, S. Schwarzenberg, I. Sermet-Gaudelus, K. Southern, G. Taccetti, G. Ullrich, S. Wolfe (2014)
European Cystic Fibrosis Society Standards of Care: Best Practice guidelines.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 13 Suppl 1
-
DWC Witt, P Goonewardena, E Louie, S Rosenfeld (2008)
American Society of Human Genetics (Proceedings of Annual Meeting) -
K. Southern, A. Munck, R. Pollitt, G. Travert, L. Zanolla, J. Dankert-Roelse, C. Castellani (2007)
A survey of newborn screening for cystic fibrosis in Europe.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 6 1
-
E. Kerem, S. Conway, S. Elborn, H. Heijerman (2005)
Standards of care for patients with cystic fibrosis: a European consensus.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 4 1
-
P. Lewis (1999)
Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one regionArchives of Disease in Childhood, 80
-
J. Massie, Vicki Petrou, R. Forbes, L. Curnow, L. Ioannou, D. Dusart, A. Bankier, M. Delatycki (2009)
Population‐based carrier screening for cystic fibrosis in Victoria: The first three years experienceAustralian and New Zealand Journal of Obstetrics and Gynaecology, 49
-
V. Scotet, I. Duguépéroux, P. Saliou, G. Rault, M. Roussey, M. Audrézet, C. Férec (2012)
Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, FranceOrphanet Journal of Rare Diseases, 7
-
J. Zlotogora (2009)
Population programs for the detection of couples at risk for severe monogenic genetic diseasesHuman Genetics, 126
-
(2008)
Cystic fibrosis prenatal screening of 103,600 individuals in an HMO: molecular/clinical outcomes and a dramatic reduction in CF incidence (abstract) -
D. Borowitz, R. Parad, Jack Sharp, Kathryn Sabadosa, K. Robinson, M. Rock, P. Farrell, M. Sontag, M. Rosenfeld, S. Davis, B. Marshall, F. Accurso (2009)
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.The Journal of pediatrics, 155 6 Suppl
-
(2011)
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.Obstetrics and gynecology, 117 4
- Publisher
- Springer Journals
- Copyright
- Copyright © 2016 by American College of Medical Genetics and Genomics
- Subject
- Biomedicine; Biomedicine, general; Human Genetics; Laboratory Medicine
- ISSN
- 1098-3600
- eISSN
- 1530-0366
- DOI
- 10.1038/gim.2015.68
- Publisher site
- See Article on Publisher Site
Abstract
Genet Med 18 2, 145–151.
Journal
Genetics in Medicine – Springer Journals
Published: Jun 18, 2015