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Items: 1 to 20 of 212

1.

Future directions in early cystic fibrosis lung disease research: an NHLBI workshop report.

Ramsey BW, Banks-Schlegel S, Accurso FJ, Boucher RC, Cutting GR, Engelhardt JF, Guggino WB, Karp CL, Knowles MR, Kolls JK, LiPuma JJ, Lynch S, McCray PB Jr, Rubenstein RC, Singh PK, Sorscher E, Welsh M.

Am J Respir Crit Care Med. 2012 Apr 15;185(8):887-92. doi: 10.1164/rccm.201111-2068WS. Epub 2012 Feb 3.

2.

Cystic Fibrosis Diagnosis and Newborn Screening.

Rosenfeld M, Sontag MK, Ren CL.

Pediatr Clin North Am. 2016 Aug;63(4):599-615. doi: 10.1016/j.pcl.2016.04.004. Review.

PMID:
27469178
3.

Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.

Sands D, Zybert K, Mierzejewska E, OĊ‚tarzewski M.

Dev Period Med. 2015 Jan-Mar;19(1):16-24.

4.

Modifier genetics: cystic fibrosis.

Cutting GR.

Annu Rev Genomics Hum Genet. 2005;6:237-60. Review.

PMID:
16124861
5.

The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening.

Sermet-Gaudelus I, Roussel D, Bui S, Deneuville E, Huet F, Reix P, Bellon G, Lenoir G, Edelman A.

BMC Pediatr. 2006 Oct 3;6:25.

6.

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.

Sermet-Gaudelus I, Girodon E, Roussel D, Deneuville E, Bui S, Huet F, Guillot M, Aboutaam R, Renouil M, Munck A, des Georges M, Iron A, Thauvin-Robinet C, Fajac I, Lenoir G, Roussey M, Edelman A.

Thorax. 2010 Jun;65(6):539-44. doi: 10.1136/thx.2009.123422.

PMID:
20522854
7.

Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities.

Li W, Soave D, Miller MR, Keenan K, Lin F, Gong J, Chiang T, Stephenson AL, Durie P, Rommens J, Sun L, Strug LJ.

Hum Genet. 2014 Feb;133(2):151-61. doi: 10.1007/s00439-013-1363-7. Epub 2013 Sep 22.

PMID:
24057835
8.

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.

Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW 3rd; Cystic Fibrosis Foundation.

J Pediatr. 2008 Aug;153(2):S4-S14. doi: 10.1016/j.jpeds.2008.05.005.

9.

Classic respiratory disease but atypical diagnostic testing distinguishes adult presentation of cystic fibrosis.

Keating CL, Liu X, Dimango EA.

Chest. 2010 May;137(5):1157-63. doi: 10.1378/chest.09-1352. Epub 2009 Dec 4.

10.

CF versus CRMS: diagnostic challenges in cystic fibrosis.

Temme R, Roggenbuck J, McNamara J.

Minn Med. 2012 Oct;95(10):42-4.

PMID:
23193705
11.

Progression of early structural lung disease in young children with cystic fibrosis assessed using CT.

Mott LS, Park J, Murray CP, Gangell CL, de Klerk NH, Robinson PJ, Robertson CF, Ranganathan SC, Sly PD, Stick SM; AREST CF.

Thorax. 2012 Jun;67(6):509-16. doi: 10.1136/thoraxjnl-2011-200912. Epub 2011 Dec 26.

PMID:
22201161
12.

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.

Cystic Fibrosis Foundation, Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall BC, Accurso FJ.

J Pediatr. 2009 Dec;155(6 Suppl):S106-16. doi: 10.1016/j.jpeds.2009.09.003.

PMID:
19914443
13.

Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G).

Frossard PM, Bakalinova D, Hertecant J, Bossaert Y, Dawson KP.

J Trop Pediatr. 1999 Jun;45(3):158-60.

PMID:
10401194
14.

CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.

Bonadia LC, de Lima Marson FA, Ribeiro JD, Paschoal IA, Pereira MC, Ribeiro AF, Bertuzzo CS.

Gene. 2014 May 1;540(2):183-90. doi: 10.1016/j.gene.2014.02.040. Epub 2014 Feb 26.

PMID:
24583165
15.

Cystic fibrosis: a clinical view.

Castellani C, Assael BM.

Cell Mol Life Sci. 2017 Jan;74(1):129-140. doi: 10.1007/s00018-016-2393-9. Epub 2016 Oct 5. Review.

PMID:
27709245
16.

Lessons learned from 20 years of newborn screening for cystic fibrosis.

Massie RJ, Curnow L, Glazner J, Armstrong DS, Francis I.

Med J Aust. 2012 Jan 16;196(1):67-70.

PMID:
22256939
17.

Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs.

Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, Wilfond BS; CDC.

MMWR Recomm Rep. 2004 Oct 15;53(RR-13):1-36. Review.

18.

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB.

Pediatrics. 2004 Jun;113(6):1573-81.

PMID:
15173476
19.

Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.

Brennan ML, Schrijver I.

J Mol Diagn. 2016 Jan;18(1):3-14. doi: 10.1016/j.jmoldx.2015.06.010. Epub 2015 Nov 26. Review.

PMID:
26631874
20.

Therapeutic strategies to correct malfunction of CFTR.

Lim M, Zeitlin PL.

Paediatr Respir Rev. 2001 Jun;2(2):159-64. Review.

PMID:
12531063

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