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Items: 1 to 20 of 86

1.

Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians.

Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC.

Genet Med. 2002 Mar-Apr;4(2):90-4.

PMID:
11882786
2.
3.

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.

Strom CM, Crossley B, Buller-Buerkle A, Jarvis M, Quan F, Peng M, Muralidharan K, Pratt V, Redman JB, Sun W.

Genet Med. 2011 Feb;13(2):166-72. doi: 10.1097/GIM.0b013e3181fa24c4.

PMID:
21068670
4.
5.

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, Hill A, Graham C.

Am J Hum Genet. 1992 Jun;50(6):1185-94.

6.

Is cystic fibrosis carrier screening cost effective?

Wei S, Quigg MH, Monaghan KG.

Community Genet. 2007;10(2):103-9.

PMID:
17380060
7.

Cystic fibrosis carrier screening in a North American population.

Zvereff VV, Faruki H, Edwards M, Friedman KJ.

Genet Med. 2014 Jul;16(7):539-46. doi: 10.1038/gim.2013.188. Epub 2013 Dec 19.

PMID:
24357848
8.

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

Alper OM, Wong LJ, Young S, Pearl M, Graham S, Sherwin J, Nussbaum E, Nielson D, Platzker A, Davies Z, Lieberthal A, Chin T, Shay G, Hardy K, Kharrazi M.

Hum Mutat. 2004 Oct;24(4):353. Erratum in: Hum Mutat. 2005 Feb;25(2):223.

PMID:
15365999
9.
10.

Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, Friedman KJ, Knowles MR, Rosenstein BJ, Cutting GR.

Am J Hum Genet. 1997 May;60(5):1122-7.

11.
12.

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B, Entwistle T, Sun W.

Genet Med. 2002 Jul-Aug;4(4):289-96.

PMID:
12172395
13.

Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

Kornreich R, Ekstein J, Edelmann L, Desnick RJ.

Genet Med. 2004 Sep-Oct;6(5):415-20.

PMID:
15371906
14.
15.

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

Kanavakis E, Efthymiadou A, Strofalis S, Doudounakis S, Traeger-Synodinos J, Tzetis M.

Clin Genet. 2003 May;63(5):400-9.

PMID:
12752573
16.
17.

Carrier screening for cystic fibrosis in US genetic testing laboratories: a survey of laboratory directors.

Kaufman DJ, Katsanis SH, Javitt GH, Murphy JA, Scott JA, Hudson KL.

Clin Genet. 2008 Oct;74(4):367-73. doi: 10.1111/j.1399-0004.2008.01070.x. Epub 2008 Aug 12.

PMID:
18700896
18.

Improved detection of CFTR mutations in Southern California Hispanic CF patients.

Wong LJ, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS.

Hum Mutat. 2001 Oct;18(4):296-307.

PMID:
11668613
19.

Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations.

DeMarchi JM, Beaudet AL, Caskey CT, Richards CS.

Arch Pathol Lab Med. 1994 Jan;118(1):26-32.

PMID:
8285831
20.

Genetic analysis of Hispanic individuals with cystic fibrosis.

Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, et al.

Am J Hum Genet. 1994 Mar;54(3):443-6.

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