Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
作者信息
Watson Michael S, Cutting Garry R, Desnick Robert J, Driscoll Deborah A, Klinger Katherine, Mennuti Michael, Palomaki Glenn E, Popovich Bradley W, Pratt Victoria M, Rohlfs Elizabeth M, Strom Charles M, Richards C Sue, Witt David R, Grody Wayne W
机构信息
ACMG Cystic Fibrosis Carrier Screening Work Group, American College of Medical Genetics, Bethesda, Maryland 20814, USA.
出版信息
Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c.
Abstract
摘要
相似文献
1
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c.
2
Cystic fibrosis carrier screening in a North American population.
Genet Med. 2014 Jul;16(7):539-46. doi: 10.1038/gim.2013.188. Epub 2013 Dec 19.
3
Carrier screening, incidence of cystic fibrosis, and difficult decisions.
JAMA. 2009 Dec 16;302(23):2595-6. doi: 10.1001/jama.2009.1865.
4
Cystic fibrosis carrier screening: issues in implementation.
Genet Med. 2002 Nov-Dec;4(6):407-9. doi: 10.1097/00125817-200211000-00001.
5
The expanding phenotype of cystic fibrosis.
Med J Aust. 2004 Nov 1;181(9):514. doi: 10.5694/j.1326-5377.2004.tb06415.x.
6
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
Obstet Gynecol. 2011 Apr;117(4):1028-1031. doi: 10.1097/AOG.0b013e31821922c2.
7
Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.
Genet Med. 2011 Feb;13(2):166-72. doi: 10.1097/GIM.0b013e3181fa24c4.
8
Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening.
Adv Pediatr. 2002;49:131-90.
9
Is cystic fibrosis carrier screening cost effective?
Community Genet. 2007;10(2):103-9. doi: 10.1159/000099088.
10
Introduction to molecular cystic fibrosis testing.
Clin Lab Sci. 2006 Winter;19(1):24-31.
引用本文的文献
1
Prevalence of clinician-ordered genetic testing in rural and urban United States counties: An analysis of the 2022 Health Information National Trends Survey.
Prev Med Rep. 2025 Jul 10;57:103163. doi: 10.1016/j.pmedr.2025.103163. eCollection 2025 Sep.
2
Understanding the action of bamocaftor as a potential drug candidate against Cystic Fibrosis Transmembrane Regulator protein: A computational approach.
PLoS One. 2025 Jul 23;20(7):e0328051. doi: 10.1371/journal.pone.0328051. eCollection 2025.
3
Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.
JAMA Intern Med. 2025 Jun 16. doi: 10.1001/jamainternmed.2025.1853.
4
Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation.
Int J Neonatal Screen. 2025 Apr 2;11(2):24. doi: 10.3390/ijns11020024.
5
Prevalence of CFTR Pathogenic Variants in Pancreatitis: A Systematic Review and Meta-Analysis.
Clin Transl Gastroenterol. 2025 Apr 18;16(7):e00846. doi: 10.14309/ctg.0000000000000846. eCollection 2025 Jul 1.
6
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Asian J Androl. 2025 Sep 1;27(5):611-620. doi: 10.4103/aja2024124. Epub 2025 Mar 11.
7
Applications of genome sequencing as a single platform for clinical constitutional genetic testing.
Genet Med Open. 2024 Mar 20;2:101840. doi: 10.1016/j.gimo.2024.101840. eCollection 2024.
8
Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.
Am J Hum Genet. 2025 Jan 2;112(1):181-195. doi: 10.1016/j.ajhg.2024.11.004. Epub 2024 Nov 29.
9
Population Characteristics of the Spectrum and Frequencies of Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).
Genes (Basel). 2024 Oct 17;15(10):1335. doi: 10.3390/genes15101335.
10
Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.
Sci Rep. 2024 Oct 1;14(1):22774. doi: 10.1038/s41598-024-73748-3.
本文引用的文献
1
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.
Genet Med. 2004 Sep-Oct;6(5):426-30. doi: 10.1097/01.gim.0000139508.61701.bd.
2
Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population.
Genet Med. 2004 Sep-Oct;6(5):405-14. doi: 10.1097/01.gim.0000139505.06194.39.
3
Cystic fibrosis carrier screening: issues in implementation.
Genet Med. 2002 Nov-Dec;4(6):407-9. doi: 10.1097/00125817-200211000-00001.
4
Standards and guidelines for CFTR mutation testing.
Genet Med. 2002 Sep-Oct;4(5):379-91. doi: 10.1097/00125817-200209000-00010.
5
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.
Genet Med. 2002 Sep-Oct;4(5):319-23. doi: 10.1097/00125817-200209000-00001.
6
Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.
Genet Med. 2002 Jul-Aug;4(4):289-96. doi: 10.1097/00125817-200207000-00007.
7
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
Genet Med. 2001 Mar-Apr;3(2):149-54. doi: 10.1097/00125817-200103000-00010.
8
Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.
Arch Intern Med. 1999 Jul 26;159(14):1529-39.
Zotero 插件