Pique L - Search Results

1

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C. Wang W, et al. Among authors: pique l. Nucleic Acids Res. 2011 Jan;39(1):44-58. doi: 10.1093/nar/gkq750. Epub 2010 Sep 15. Nucleic Acids Res. 2011. PMID: 20843780 Free PMC article.

2

Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy.

Schrijver I, Pique LM, Traynis I, Scharfe C, Sehnert AJ. Schrijver I, et al. Genet Med. 2009 Feb;11(2):118-26. doi: 10.1097/GIM.0b013e318190356b. Genet Med. 2009. PMID: 19265752 Free article.

3

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: pique lm. 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.

4

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. Among authors: pique l. 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.

5

Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Rodriguez-Paris J, Pique L, Colen T, Roberson J, Gardner P, Schrijver I. Rodriguez-Paris J, et al. Among authors: pique l. PLoS One. 2010 Jul 26;5(7):e11804. doi: 10.1371/journal.pone.0011804. PLoS One. 2010. PMID: 20668687 Free PMC article.

6

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. Among authors: pique l. 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.

7

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. PeerJ. 2014 May 8;2:e384. doi: 10.7717/peerj.384. eCollection 2014. PeerJ. 2014. PMID: 24860705 Free PMC article.

8

Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.

Rodriguez-Paris J, Waldhaus J, Gordhandas JA, Pique L, Schrijver I. Rodriguez-Paris J, et al. Among authors: pique l. PeerJ. 2016 Oct 11;4:e2494. doi: 10.7717/peerj.2494. eCollection 2016. PeerJ. 2016. PMID: 27761313 Free PMC article.

9

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. 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.

10

Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis.

Naguib ML, Schrijver I, Gardner P, Pique LM, Doss SS, Abu Zekry MA, Aziz M, Nasr SZ. Naguib ML, et al. Among authors: pique lm. J Cyst Fibros. 2007 Apr;6(2):111-6. doi: 10.1016/j.jcf.2006.04.004. Epub 2006 Jul 11. J Cyst Fibros. 2007. PMID: 16837250 Free article.

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