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Items: 1 to 20 of 261

1.

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
2.

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Bobadilla JL, Macek M Jr, Fine JP, Farrell PM.

Hum Mutat. 2002 Jun;19(6):575-606. Review.

PMID:
12007216
3.

Laboratory tests for the diagnosis of cystic fibrosis.

Wang L, Freedman SD.

Am J Clin Pathol. 2002 Jun;117 Suppl:S109-15. Review.

PMID:
14569807
4.

Cystic fibrosis: newborn screening in America.

Kleven DT, McCudden CR, Willis MS.

MLO Med Lab Obs. 2008 Jul;40(7):16-8, 22, 24-7. Review.

PMID:
18717498
5.

State-of-the-art for DNA technology in newborn screening.

McCabe ER, McCabe LL.

Acta Paediatr Suppl. 1999 Dec;88(432):58-60. Review.

PMID:
10626581
6.

Newborn screening for cystic fibrosis.

Wagener JS, Zemanick ET, Sontag MK.

Curr Opin Pediatr. 2012 Jun;24(3):329-35. doi: 10.1097/MOP.0b013e328353489a. Review.

PMID:
22491493
7.

Emerging issues in cystic fibrosis newborn screening.

Castellani C, Massie J.

Curr Opin Pulm Med. 2010 Nov;16(6):584-90. doi: 10.1097/MCP.0b013e32833e9e27. Review.

PMID:
20814308
8.

Newborn screening programmes for cystic fibrosis.

Southern KW, Littlewood JM.

Paediatr Respir Rev. 2003 Dec;4(4):299-305. Review.

PMID:
14629952
9.

A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis.

Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG, Schwarz MJ, Castellani C, Southern KW; European Cystic Fibrosis Society Neonatal Screening Working Group.

J Cyst Fibros. 2009 Jan;8(1):71-8. doi: 10.1016/j.jcf.2008.09.005. Epub 2008 Oct 28.

10.
11.

Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H).

Fitzgerald D, Van Asperen P, Henry R, Waters D, Freelander M, Wilson M, Wilcken B, Gaskin K.

J Paediatr Child Health. 1995 Jun;31(3):168-71. Review.

PMID:
7669372
12.

Cystic fibrosis: molecular diagnosis, population screening, and public policy.

Grody WW.

Arch Pathol Lab Med. 1999 Nov;123(11):1041-6. Review.

PMID:
10539904
13.

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.

Rosenstein BJ, Cutting GR.

J Pediatr. 1998 Apr;132(4):589-95. Review.

PMID:
9580754
14.

Newborn screening methods for cystic fibrosis.

Wilcken B, Wiley V.

Paediatr Respir Rev. 2003 Dec;4(4):272-7. Review.

PMID:
14629948
15.

[Cystic fibrosis: molecular update and clinical implications].

Orozco L, Chávez M, Saldaña Y, Velázquez R, Carnevale A, González-del Angel A, Jiménez S.

Rev Invest Clin. 2006 Mar-Apr;58(2):139-52. Review. Spanish.

PMID:
16827266
16.

Cystic fibrosis newborn screening.

Com G.

J Ark Med Soc. 2010 Mar;106(9):210-2. Review.

PMID:
20337169
17.

[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].

Schwartz M.

Ugeskr Laeger. 2003 Feb 24;165(9):912-6. Review. Danish.

PMID:
12661515
18.

Screening practices for mutations in the CFTR gene ABCC7.

Girodon-Boulandet E, Cazeneuve C, Goossens M.

Hum Mutat. 2000;15(2):135-49. Review.

PMID:
10649490
19.

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.

Mickle JE, Cutting GR.

Clin Chest Med. 1998 Sep;19(3):443-58, v. Review.

PMID:
9759548
20.

Molecular diagnosis of cystic fibrosis.

Kant JA, Mifflin TE, McGlennen R, Rice E, Naylor E, Cooper DL.

Clin Lab Med. 1995 Dec;15(4):877-98. Review.

PMID:
8838228

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