Knowles MR - Search Results

1

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: knowles mr. Am J Hum Genet. 1997 May;60(5):1122-7. Am J Hum Genet. 1997. PMID: 9150159 Free PMC article.

2

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Sheridan MB, et al. Hum Mol Genet. 2005 Nov 15;14(22):3493-8. doi: 10.1093/hmg/ddi374. Epub 2005 Oct 5. Hum Mol Genet. 2005. PMID: 16207733

3

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: knowles mr. 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

4

Comparison of the clinical manifestations of cystic fibrosis in black and white patients.

Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. Hamosh A, et al. Among authors: knowles mr. J Pediatr. 1998 Feb;132(2):255-9. doi: 10.1016/s0022-3476(98)70441-x. J Pediatr. 1998. PMID: 9506637 Free article.

5

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.

Aksit MA, Ling H, Pace RG, Raraigh KS, Onchiri F, Faino AV, Pagel K, Pugh E, Stilp AM, Sun Q, Blue EE, Wright FA, Zhou YH, Bamshad MJ, Gibson RL, Knowles MR, Cutting GR, Blackman SM; CF Genome Project. Aksit MA, et al. Among authors: knowles mr. Am J Hum Genet. 2022 Oct 6;109(10):1894-1908. doi: 10.1016/j.ajhg.2022.09.004. Am J Hum Genet. 2022. PMID: 36206743 Free PMC article.

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. Among authors: knowles mr. 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

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: knowles mr. N Engl J Med. 1998 Sep 3;339(10):653-8. doi: 10.1056/NEJM199809033391002. N Engl J Med. 1998. PMID: 9725922 Free article.

8

Recommendations for the classification of diseases as CFTR-related disorders.

Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C. Bombieri C, et al. J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3. J Cyst Fibros. 2011. PMID: 21658649 Free article.

9

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. Among authors: knowles mr. 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.

10

A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis.

Blackman SM, Hsu S, Ritter SE, Naughton KM, Wright FA, Drumm ML, Knowles MR, Cutting GR. Blackman SM, et al. Among authors: knowles mr. Diabetologia. 2009 Sep;52(9):1858-65. doi: 10.1007/s00125-009-1436-2. Epub 2009 Jul 8. Diabetologia. 2009. PMID: 19585101 Free PMC article.

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