Friedman KJ - Search Results

1

Molecular diagnostic dilemmas in Rett syndrome.

Zvereff V, Carpenter L, Patton D, Cabral H, Rita D, Wilson A, Anyane-Yeboa K, White L, Friedman KJ. Zvereff V, et al. Among authors: friedman kj. Brain Dev. 2012 Oct;34(9):750-5. doi: 10.1016/j.braindev.2011.12.012. Epub 2012 Jan 25. Brain Dev. 2012. PMID: 22277191

2

Cystic fibrosis carrier screening in a North American population.

Zvereff VV, Faruki H, Edwards M, Friedman KJ. Zvereff VV, et al. Among authors: friedman kj. Genet Med. 2014 Jul;16(7):539-46. doi: 10.1038/gim.2013.188. Epub 2013 Dec 19. Genet Med. 2014. PMID: 24357848 Free article.

3

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. Macek M Jr, et al. Among authors: friedman kj. Am J Hum Genet. 1997 May;60(5):1122-7. Am J Hum Genet. 1997. PMID: 9150159 Free PMC article.

4

Association of pancreatic adenocarcinoma, mild lung disease, and delta F508 mutation in a cystic fibrosis patient.

Tsongalis GJ, Faber G, Dalldorf FG, Friedman KJ, Silverman LM, Yankaskas JR. Tsongalis GJ, et al. Among authors: friedman kj. Clin Chem. 1994 Oct;40(10):1972-4. Clin Chem. 1994. PMID: 7522998

5

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.

6

Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides.

Friedman KJ, Kole J, Cohn JA, Knowles MR, Silverman LM, Kole R. Friedman KJ, et al. J Biol Chem. 1999 Dec 17;274(51):36193-9. doi: 10.1074/jbc.274.51.36193. J Biol Chem. 1999. PMID: 10593905 Free article.

7

Screening Young syndrome patients for CFTR mutations.

Friedman KJ, Teichtahl H, De Kretser DM, Temple-Smith P, Southwick GJ, Silverman LM, Highsmith WE Jr, Boucher RC, Knowles MR. Friedman KJ, et al. Am J Respir Crit Care Med. 1995 Oct;152(4 Pt 1):1353-7. doi: 10.1164/ajrccm.152.4.7551394. Am J Respir Crit Care Med. 1995. PMID: 7551394

8

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

Hoffman JD, Park JJ, Schreiber-Agus N, Kornreich R, Tanner AK, Keiles S, Friedman KJ, Heim RA. Hoffman JD, et al. Among authors: friedman kj. Prenat Diagn. 2014 Dec;34(12):1161-7. doi: 10.1002/pd.4446. Epub 2014 Jul 31. Prenat Diagn. 2014. PMID: 24996053 Review.

9

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.

Friedman KJ, Heim RA, Knowles MR, Silverman LM. Friedman KJ, et al. Hum Mutat. 1997;10(2):108-15. doi: 10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUMU3>3.0.CO;2-G. Hum Mutat. 1997. PMID: 9259194

10

A model for molecular screening of newborns: simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis.

Prior TW, Highsmith WE Jr, Friedman KJ, Perry TR, Scheuerbrandt G, Silverman LM. Prior TW, et al. Among authors: friedman kj. Clin Chem. 1990 Oct;36(10):1756-9. Clin Chem. 1990. PMID: 2208650

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