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Items: 31

1.

Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson's disease.

Zafar F, Valappil RA, Kim S, Johansen KK, Chang ALS, Tetrud JW, Eis PS, Hatchwell E, Langston JW, Dickson DW, Schüle B.

NPJ Parkinsons Dis. 2018 Jun 15;4:18. doi: 10.1038/s41531-018-0054-4. eCollection 2018.

2.

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.

Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, Ryten M, Spain D, Pitts M, Bramham J, Asherson P, Curran S, Vassos E, Breen G, Flinter F, Ogilvie CM, Collier DA, Scherer SW, McAlonan GM, Murphy DG.

J Med Genet. 2016 Aug;53(8):536-47. doi: 10.1136/jmedgenet-2015-103621. Epub 2016 Apr 12.

PMID:
27073233
3.

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Gilbert Dussardier B, Scherer SW, Betancur C, Campion D.

Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):377-82. doi: 10.1002/ajmg.b.32416. Epub 2016 Jan 14.

4.

Comparative genomic hybridization solves a 14-year-old PARKIN mystery.

Schüle B, Hatchwell E, Eis PS, Langston JW.

Ann Neurol. 2015 Oct;78(4):663-4. doi: 10.1002/ana.24478. Epub 2015 Aug 29. No abstract available.

PMID:
26179350
5.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

6.

A discovery resource of rare copy number variations in individuals with autism spectrum disorder.

Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, Fernandez BA, Marshall CR, Hatchwell E, Eis PS, Scherer SW.

G3 (Bethesda). 2012 Dec;2(12):1665-85. doi: 10.1534/g3.112.004689. Epub 2012 Dec 1.

7.

Acquired copy number alterations in adult acute myeloid leukemia genomes.

Walter MJ, Payton JE, Ries RE, Shannon WD, Deshmukh H, Zhao Y, Baty J, Heath S, Westervelt P, Watson MA, Tomasson MH, Nagarajan R, O'Gara BP, Bloomfield CD, Mrózek K, Selzer RR, Richmond TA, Kitzman J, Geoghegan J, Eis PS, Maupin R, Fulton RS, McLellan M, Wilson RK, Mardis ER, Link DC, Graubert TA, DiPersio JF, Ley TJ.

Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):12950-5. doi: 10.1073/pnas.0903091106. Epub 2009 Jul 27.

8.

Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.

Dai L, Bellugi U, Chen XN, Pulst-Korenberg AM, Järvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, Korenberg JR.

Am J Med Genet A. 2009 Mar;149A(3):302-14. doi: 10.1002/ajmg.a.32652.

9.

Quantification of microRNAs, splicing isoforms, and homologous mRNAs with the invader assay.

Eis PS, Garcia-Blanco MA.

Methods Mol Biol. 2008;488:279-318. doi: 10.1007/978-1-60327-475-3_20.

PMID:
18982299
10.

wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data.

Cahan P, Godfrey LE, Eis PS, Richmond TA, Selzer RR, Brent M, McLeod HL, Ley TJ, Graubert TA.

Nucleic Acids Res. 2008 Apr;36(7):e41. doi: 10.1093/nar/gkn110. Epub 2008 Mar 11.

11.

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG.

Nat Genet. 2007 Sep;39(9):1071-3. Epub 2007 Aug 19.

PMID:
17704777
12.

Characterization of a recurrent 15q24 microdeletion syndrome.

Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE.

Hum Mol Genet. 2007 Mar 1;16(5):567-72. Epub 2007 Mar 14.

PMID:
17360722
13.

A high-resolution map of segmental DNA copy number variation in the mouse genome.

Graubert TA, Cahan P, Edwin D, Selzer RR, Richmond TA, Eis PS, Shannon WD, Li X, McLeod HL, Cheverud JM, Ley TJ.

PLoS Genet. 2007 Jan 5;3(1):e3. Epub 2006 Nov 22.

14.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.

Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13.

PMID:
16906162
15.

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

Selzer RR, Richmond TA, Pofahl NJ, Green RD, Eis PS, Nair P, Brothman AR, Stallings RL.

Genes Chromosomes Cancer. 2005 Nov;44(3):305-19.

PMID:
16075461
16.

Accumulation of miR-155 and BIC RNA in human B cell lymphomas.

Eis PS, Tam W, Sun L, Chadburn A, Li Z, Gomez MF, Lund E, Dahlberg JE.

Proc Natl Acad Sci U S A. 2005 Mar 8;102(10):3627-32. Epub 2005 Feb 28.

17.

Quantification of alternatively spliced FGFR2 RNAs using the RNA invasive cleavage assay.

Wagner EJ, Curtis ML, Robson ND, Baraniak AP, Eis PS, Garcia-Blanco MA.

RNA. 2003 Dec;9(12):1552-61.

18.

Invader technology for DNA and RNA analysis: principles and applications.

de Arruda M, Lyamichev VI, Eis PS, Iszczyszyn W, Kwiatkowski RW, Law SM, Olson MC, Rasmussen EB.

Expert Rev Mol Diagn. 2002 Sep;2(5):487-96. Review.

PMID:
12271820
19.

Multiplexed gene expression analysis using the invader RNA assay with MALDI-TOF mass spectrometry detection.

Berggren WT, Takova T, Olson MC, Eis PS, Kwiatkowski RW, Smith LM.

Anal Chem. 2002 Apr 15;74(8):1745-50.

PMID:
11985304
20.

An invasive cleavage assay for direct quantitation of specific RNAs.

Eis PS, Olson MC, Takova T, Curtis ML, Olson SM, Vener TI, Ip HS, Vedvik KL, Bartholomay CT, Allawi HT, Ma WP, Hall JG, Morin MD, Rushmore TH, Lyamichev VI, Kwiatkowski RW.

Nat Biotechnol. 2001 Jul;19(7):673-6. Erratum in: Nat Biotechnol 2002 Mar;20(3):307.

PMID:
11433281
21.

Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction.

Hall JG, Eis PS, Law SM, Reynaldo LP, Prudent JR, Marshall DJ, Allawi HT, Mast AL, Dahlberg JE, Kwiatkowski RW, de Arruda M, Neri BP, Lyamichev VI.

Proc Natl Acad Sci U S A. 2000 Jul 18;97(15):8272-7.

22.

High resolution solution structure of a DNA duplex alkylated by the antitumor agent duocarmycin SA.

Eis PS, Smith JA, Rydzewski JM, Case DA, Boger DL, Chazin WJ.

J Mol Biol. 1997 Sep 19;272(2):237-52.

PMID:
9299351
23.

Fluorescence studies of zinc finger peptides and proteins.

Eis PS.

Methods Enzymol. 1997;278:330-43. Review. No abstract available.

PMID:
9170321
24.
25.

Real time kinetics of restriction endonuclease cleavage monitored by fluorescence resonance energy transfer.

Ghosh SS, Eis PS, Blumeyer K, Fearon K, Millar DP.

Nucleic Acids Res. 1994 Aug 11;22(15):3155-9.

26.
28.

Distance distributions and dynamics of a zinc finger peptide from fluorescence resonance energy transfer measurements.

Eis PS, Kuśba J, Johnson ML, Lakowicz JR.

J Fluoresc. 1993 Mar;3(1):23-31. doi: 10.1007/BF00865286.

PMID:
24234716
29.

Distance distributions recovered from steady-state fluorescence measurements on thirteen donor-acceptor pairs with different Förster distances.

Wiczk W, Eis PS, Fishman MN, Johnson ML, Lakowicz JR.

J Fluoresc. 1991 Dec;1(4):273-86. doi: 10.1007/BF00865251.

PMID:
24243077
30.

Resolution of end-to-end diffusion coefficients and distance distributions of flexible molecules using fluorescent donor-acceptor and donor-quencher pairs.

Lakowicz JR, Kuśba J, Szmacinski H, Gryczynski I, Eis PS, Wiczk W, Johnson ML.

Biopolymers. 1991 Oct 15;31(12):1363-78.

PMID:
1816874
31.

Competitive, reversible, and potent antagonism of inositol 1,4,5-trisphosphate-activated calcium release by heparin.

Ghosh TK, Eis PS, Mullaney JM, Ebert CL, Gill DL.

J Biol Chem. 1988 Aug 15;263(23):11075-9.

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