Nygren AO - Search Results

1

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.

Groth M, Szafranski K, Taudien S, Huse K, Mueller O, Rosenstiel P, Nygren AO, Schreiber S, Birkenmeier G, Platzer M. Groth M, et al. Among authors: nygren ao. Hum Mutat. 2008 Oct;29(10):1247-54. doi: 10.1002/humu.20751. Hum Mutat. 2008. PMID: 18470942

2

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.

Birk Møller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, Güttler F, Tyfield L, Zschocke J. Birk Møller L, et al. Among authors: nygren ao. Hum Mutat. 2007 Feb;28(2):207. doi: 10.1002/humu.9481. Hum Mutat. 2007. PMID: 17221866

3

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.

Djarmati A, Guzvić M, Grünewald A, Lang AE, Pramstaller PP, Simon DK, Kaindl AM, Vieregge P, Nygren AO, Beetz C, Hedrich K, Klein C. Djarmati A, et al. Among authors: nygren ao. Mov Disord. 2007 Sep 15;22(12):1708-14. doi: 10.1002/mds.21370. Mov Disord. 2007. PMID: 17674414

4

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.

Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AO, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, Deufel T. Beetz C, et al. Among authors: nygren ao. Hum Mutat. 2007 Jul;28(7):739-40. doi: 10.1002/humu.20508. Hum Mutat. 2007. PMID: 17345589 No abstract available.

5

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.

Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N. Scott RH, et al. Among authors: nygren ao. J Med Genet. 2008 Feb;45(2):106-13. doi: 10.1136/jmg.2007.053207. Epub 2007 Oct 15. J Med Genet. 2008. PMID: 18245390

6

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S. Beetz C, et al. Among authors: nygren ao. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 Free PMC article.

7

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T. Beetz C, et al. Among authors: nygren ao. Neurology. 2006 Dec 12;67(11):1926-30. doi: 10.1212/01.wnl.0000244413.49258.f5. Epub 2006 Oct 11. Neurology. 2006. PMID: 17035675

8

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.

Dikow N, Nygren AO, Schouten JP, Hartmann C, Krämer N, Janssen B, Zschocke J. Dikow N, et al. Among authors: nygren ao. Mol Cell Probes. 2007 Jun;21(3):208-15. doi: 10.1016/j.mcp.2006.12.002. Epub 2007 Jan 12. Mol Cell Probes. 2007. PMID: 17303379

9

Fluorescent resonance energy transfer (FRET) based detection of a multiplex ligation-dependent probe amplification assay (MLPA) product.

Ozalp VC, Nygren AO, O'Sullivan CK. Ozalp VC, et al. Among authors: nygren ao. Mol Biosyst. 2008 Sep;4(9):950-4. doi: 10.1039/b802382d. Epub 2008 Jul 22. Mol Biosyst. 2008. PMID: 18704233

10

Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.

Alsum Z, Abu Safieh L, Nygren AO, Al-Hamed MA, Alkuraya FS. Alsum Z, et al. Among authors: nygren ao. Genet Test Mol Biomarkers. 2010 Feb;14(1):135-9. doi: 10.1089/gtmb.2009.0092. Genet Test Mol Biomarkers. 2010. PMID: 19916794

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