Schrijver I - Search Results

1

Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.

Brennan ML, Schrijver I. Brennan ML, et al. Among authors: schrijver i. J Mol Diagn. 2016 Jan;18(1):3-14. doi: 10.1016/j.jmoldx.2015.06.010. Epub 2015 Nov 26. J Mol Diagn. 2016. PMID: 26631874 Free article. Review.

2

Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.

Brennan ML, Pique LM, Schrijver I. Brennan ML, et al. Among authors: schrijver i. J Cyst Fibros. 2016 Jan;15(1):52-9. doi: 10.1016/j.jcf.2015.04.001. Epub 2015 Apr 18. J Cyst Fibros. 2016. PMID: 25900089 Free article.

3

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.

Schrijver I, Pique L, Graham S, Pearl M, Cherry A, Kharrazi M. Schrijver I, et al. J Mol Diagn. 2016 Jan;18(1):39-50. doi: 10.1016/j.jmoldx.2015.07.005. J Mol Diagn. 2016. PMID: 26708955 Free article.

4

Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.

Pique LM, Brennan ML, Davidson CJ, Schaefer F, Greinwald J Jr, Schrijver I. Pique LM, et al. Among authors: schrijver i. PeerJ. 2014 May 8;2:e384. doi: 10.7717/peerj.384. eCollection 2014. PeerJ. 2014. PMID: 24860705 Free PMC article.

5

Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis.

Lefterova MI, Shen P, Odegaard JI, Fung E, Chiang T, Peng G, Davis RW, Wang W, Kharrazi M, Schrijver I, Scharfe C. Lefterova MI, et al. Among authors: schrijver i. J Mol Diagn. 2016 Mar;18(2):267-82. doi: 10.1016/j.jmoldx.2015.11.005. Epub 2016 Feb 1. J Mol Diagn. 2016. PMID: 26847993 Free PMC article.

6

Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ. Schrijver I, et al. J Mol Diagn. 2008 Jul;10(4):368-75. doi: 10.2353/jmoldx.2008.080004. Epub 2008 Jun 13. J Mol Diagn. 2008. PMID: 18556774 Free PMC article.

7

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

Schrijver I, Oitmaa E, Metspalu A, Gardner P. Schrijver I, et al. J Mol Diagn. 2005 Aug;7(3):375-87. doi: 10.1016/S1525-1578(10)60567-3. J Mol Diagn. 2005. PMID: 16049310 Free PMC article.

8

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A. Schrijver I, et al. J Mol Diagn. 2005 May;7(2):289-99. doi: 10.1016/S1525-1578(10)60557-0. J Mol Diagn. 2005. PMID: 15858154 Free PMC article.

9

Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.

Schrijver I, Aziz N, Farkas DH, Furtado M, Gonzalez AF, Greiner TC, Grody WW, Hambuch T, Kalman L, Kant JA, Klein RD, Leonard DG, Lubin IM, Mao R, Nagan N, Pratt VM, Sobel ME, Voelkerding KV, Gibson JS. Schrijver I, et al. J Mol Diagn. 2012 Nov;14(6):525-40. doi: 10.1016/j.jmoldx.2012.04.006. Epub 2012 Aug 20. J Mol Diagn. 2012. PMID: 22918138 Free PMC article.

10

Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.

Pique L, Graham S, Pearl M, Kharrazi M, Schrijver I. Pique L, et al. Among authors: schrijver i. Genet Med. 2017 Jan;19(1):36-44. doi: 10.1038/gim.2016.48. Epub 2016 May 5. Genet Med. 2017. PMID: 27148940 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

140 results

Search Page