Friedman KJ - Search Results

1

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.

Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM, et al. Highsmith WE, et al. Among authors: friedman kj. N Engl J Med. 1994 Oct 13;331(15):974-80. doi: 10.1056/NEJM199410133311503. N Engl J Med. 1994. PMID: 7521937 Free article.

2

Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.

Highsmith WE Jr, Burch LH, Zhou Z, Olsen JC, Strong TV, Smith T, Friedman KJ, Silverman LM, Boucher RC, Collins FS, Knowles MR. Highsmith WE Jr, et al. Among authors: friedman kj. Hum Mutat. 1997;9(4):332-8. doi: 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.0.CO;2-7. Hum Mutat. 1997. PMID: 9101293

3

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS. Cohn JA, et al. Among authors: friedman kj. N Engl J Med. 1998 Sep 3;339(10):653-8. doi: 10.1056/NEJM199809033391002. N Engl J Med. 1998. PMID: 9725922 Free article.

4

Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis.

Friedman KJ, Highsmith WE Jr, Silverman LM. Friedman KJ, et al. Clin Chem. 1991 May;37(5):753-5. Clin Chem. 1991. PMID: 2032331

5

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

6

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

7

Cystic fibrosis syndrome: a new paradigm for inherited disorders and implications for molecular diagnostics.

Friedman KJ, Silverman LM. Friedman KJ, et al. Clin Chem. 1999 Jul;45(7):929-31. Clin Chem. 1999. PMID: 10388465 No abstract available.

8

A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides.

Highsmith WE Jr, Friedman KJ, Burch LH, Spock A, Silverman LM, Boucher RC, Knowles MR. Highsmith WE Jr, et al. Among authors: friedman kj. Clin Genet. 2005 Jul;68(1):88-90. doi: 10.1111/j.1399-0004.2005.00459.x. Clin Genet. 2005. PMID: 15952991 No abstract available.

9

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

10

Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis.

Friedman KJ, Highsmith WE Jr, Prior TW, Perry TR, Silverman LM. Friedman KJ, et al. Clin Chem. 1990 Apr;36(4):695-6. Clin Chem. 1990. PMID: 2323051 No abstract available.

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