Collins FS - Search Results

1

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al. Kerem BS, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51. doi: 10.1073/pnas.87.21.8447. Proc Natl Acad Sci U S A. 1990. PMID: 2236053 Free PMC article.

2

The cystic fibrosis gene: isolation and significance.

Collins FS, Riordan JR, Tsui LC. Collins FS, et al. Hosp Pract (Off Ed). 1990 Oct 15;25(10):47-57. doi: 10.1080/21548331.1990.11704019. Hosp Pract (Off Ed). 1990. PMID: 1698801

3

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.

Lemna WK, Feldman GL, Kerem B, Fernbach SD, Zevkovich EP, O'Brien WE, Riordan JR, Collins FS, Tsui LC, Beaudet AL. Lemna WK, et al. Among authors: collins fs. N Engl J Med. 1990 Feb 1;322(5):291-6. doi: 10.1056/NEJM199002013220503. N Engl J Med. 1990. PMID: 2296270 Free article.

4

Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulator.

Smit LS, Wilkinson DJ, Mansoura MK, Collins FS, Dawson DC. Smit LS, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):9963-7. doi: 10.1073/pnas.90.21.9963. Proc Natl Acad Sci U S A. 1993. PMID: 7694298 Free PMC article.

5

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer.

Drumm ML, Pope HA, Cliff WH, Rommens JM, Marvin SA, Tsui LC, Collins FS, Frizzell RA, Wilson JM. Drumm ML, et al. Among authors: collins fs. Cell. 1990 Sep 21;62(6):1227-33. doi: 10.1016/0092-8674(90)90398-x. Cell. 1990. PMID: 1698126 Free article.

6

The gene for the alpha i1 subunit of human guanine nucleotide binding protein maps near the cystic fibrosis locus.

Bloch DB, Bloch KD, Iannuzzi M, Collins FS, Neer EJ, Seidman JG, Morton CC. Bloch DB, et al. Among authors: collins fs. Am J Hum Genet. 1988 Jun;42(6):884-8. Am J Hum Genet. 1988. PMID: 3130752 Free PMC article.

7

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

Cremers FP, van de Pol DJ, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers HH. Cremers FP, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 1989 Oct;86(19):7510-4. doi: 10.1073/pnas.86.19.7510. Proc Natl Acad Sci U S A. 1989. PMID: 2798422 Free PMC article.

8

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS. Strong TV, et al. Among authors: collins fs. Hum Mutat. 1992;1(5):380-7. doi: 10.1002/humu.1380010506. Hum Mutat. 1992. PMID: 1284540 Free article.

9

Molecular biology of cystic fibrosis.

Drumm ML, Collins FS. Drumm ML, et al. Among authors: collins fs. Mol Genet Med. 1993;3:33-68. doi: 10.1016/b978-0-12-462003-2.50006-7. Mol Genet Med. 1993. PMID: 7693108 Review.

10

Menin, the product of the MEN1 gene, is a nuclear protein.

Guru SC, Goldsmith PK, Burns AL, Marx SJ, Spiegel AM, Collins FS, Chandrasekharappa SC. Guru SC, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1630-4. doi: 10.1073/pnas.95.4.1630. Proc Natl Acad Sci U S A. 1998. PMID: 9465067 Free PMC article.

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