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Items: 37

1.

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Newton T, Allison R, Edgar JR, Lumb JH, Rodger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schüle R, Depienne C, Goldberg L, Frahm C, Stevanin G, Durr A, Schöls L, Winner B, Beetz C, Reid E.

Brain. 2018 May 1;141(5):1286-1299. doi: 10.1093/brain/awy034.

2.

Key differences between 13 KRAS mutation detection technologies and their relevance for clinical practice.

Sherwood JL, Brown H, Rettino A, Schreieck A, Clark G, Claes B, Agrawal B, Chaston R, Kong BSG, Choppa P, Nygren AOH, Deras IL, Kohlmann A.

ESMO Open. 2017 Sep 28;2(4):e000235. doi: 10.1136/esmoopen-2017-000235. eCollection 2017. Erratum in: ESMO Open. 2018 Jan 3;3(1):e000235corr1.

3.

Ultrasensitive Detection of Multiplexed Somatic Mutations Using MALDI-TOF Mass Spectrometry.

Mosko MJ, Nakorchevsky AA, Flores E, Metzler H, Ehrich M, van den Boom DJ, Sherwood JL, Nygren AO.

J Mol Diagn. 2016 Jan;18(1):23-31. doi: 10.1016/j.jmoldx.2015.08.001. Epub 2015 Nov 18.

PMID:
26596526
4.

Single cell analysis of cancer cells using an improved RT-MLPA method has potential for cancer diagnosis and monitoring.

Kvastad L, Werne Solnestam B, Johansson E, Nygren AO, Laddach N, Sahlén P, Vickovic S, Bendigtsen SC, Aaserud M, Floer L, Borgen E, Schwind C, Himmelreich R, Latta D, Lundeberg J.

Sci Rep. 2015 Nov 12;5:16519. doi: 10.1038/srep16519.

5.

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

Shapiro AJ, Weck KE, Chao KC, Rosenfeld M, Nygren AO, Knowles MR, Leigh MW, Zariwala MA.

J Pediatr. 2014 Oct;165(4):858-61. doi: 10.1016/j.jpeds.2014.06.048. Epub 2014 Jul 25.

6.

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting.

Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D.

Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.

PMID:
21310373
7.

Quantification of fetal DNA by use of methylation-based DNA discrimination.

Nygren AO, Dean J, Jensen TJ, Kruse S, Kwong W, van den Boom D, Ehrich M.

Clin Chem. 2010 Oct;56(10):1627-35. doi: 10.1373/clinchem.2010.146290. Epub 2010 Aug 20.

8.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G.

Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21.

9.

Sensitivity and acquired resistance of BRCA1;p53-deficient mouse mammary tumors to the topoisomerase I inhibitor topotecan.

Zander SA, Kersbergen A, van der Burg E, de Water N, van Tellingen O, Gunnarsdottir S, Jaspers JE, Pajic M, Nygren AO, Jonkers J, Borst P, Rottenberg S.

Cancer Res. 2010 Feb 15;70(4):1700-10. doi: 10.1158/0008-5472.CAN-09-3367. Epub 2010 Feb 9.

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.

Genet Test Mol Biomarkers. 2010 Feb;14(1):135-9. doi: 10.1089/gtmb.2009.0092.

PMID:
19916794
11.

Moderate increase in Mdr1a/1b expression causes in vivo resistance to doxorubicin in a mouse model for hereditary breast cancer.

Pajic M, Iyer JK, Kersbergen A, van der Burg E, Nygren AO, Jonkers J, Borst P, Rottenberg S.

Cancer Res. 2009 Aug 15;69(16):6396-404. doi: 10.1158/0008-5472.CAN-09-0041. Epub 2009 Aug 4.

12.

Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

Sørensen KM, Andersen PS, Larsen LA, Schwartz M, Schouten JP, Nygren AO.

Anal Chem. 2008 Dec 1;80(23):9363-8. doi: 10.1021/ac801688c.

PMID:
19551952
13.

Poly(ADP-ribose) polymerase-1 inhibitor treatment regresses autochthonous Brca2/p53-mutant mammary tumors in vivo and delays tumor relapse in combination with carboplatin.

Hay T, Matthews JR, Pietzka L, Lau A, Cranston A, Nygren AO, Douglas-Jones A, Smith GC, Martin NM, O'Connor M, Clarke AR.

Cancer Res. 2009 May 1;69(9):3850-5. doi: 10.1158/0008-5472.CAN-08-2388. Epub 2009 Apr 21.

14.

Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.

Todorov T, Todorova A, Kirov A, Dimitrov B, Carvalho R, Nygren AO, Boneva I, Mitev V.

BMJ Case Rep. 2009;2009. pii: bcr06.2008.0139. doi: 10.1136/bcr.06.2008.0139. Epub 2009 May 18.

15.

High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs.

Rottenberg S, Jaspers JE, Kersbergen A, van der Burg E, Nygren AO, Zander SA, Derksen PW, de Bruin M, Zevenhoven J, Lau A, Boulter R, Cranston A, O'Connor MJ, Martin NM, Borst P, Jonkers J.

Proc Natl Acad Sci U S A. 2008 Nov 4;105(44):17079-84. doi: 10.1073/pnas.0806092105. Epub 2008 Oct 29.

16.

Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles.

Nygren AO, Lens SI, Carvalho R.

J Mol Diagn. 2008 Nov;10(6):496-501. doi: 10.2353/jmoldx.2008.080053. Epub 2008 Oct 2.

17.

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

Ozalp VC, Nygren AO, O'Sullivan CK.

Mol Biosyst. 2008 Sep;4(9):950-4. doi: 10.1039/b802382d. Epub 2008 Jul 22.

PMID:
18704233
18.

Concurrent methylation of promoters from tumor associated genes predicts outcome in acute myeloid leukemia.

Hess CJ, Errami A, Berkhof J, Denkers F, Ossenkoppele GJ, Nygren AO, Schuurhuis GJ, Waisfisz Q.

Leuk Lymphoma. 2008 Jun;49(6):1132-41. doi: 10.1080/10428190802035990.

PMID:
18569637
19.

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.

Hum Mutat. 2008 Oct;29(10):1247-54. doi: 10.1002/humu.20751.

PMID:
18470942
20.

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.

Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5.

21.

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.

J Med Genet. 2008 Feb;45(2):106-13. doi: 10.1136/jmg.2007.053207. Epub 2007 Oct 15.

PMID:
18245390
22.

Sequential gene promoter methylation during HPV-induced cervical carcinogenesis.

Henken FE, Wilting SM, Overmeer RM, van Rietschoten JG, Nygren AO, Errami A, Schouten JP, Meijer CJ, Snijders PJ, Steenbergen RD.

Br J Cancer. 2007 Nov 19;97(10):1457-64. Epub 2007 Oct 30.

23.

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M.

Eur J Hum Genet. 2007 Dec;15(12):1276-9. Epub 2007 Sep 26.

24.

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.

Mov Disord. 2007 Sep 15;22(12):1708-14.

PMID:
17674414
25.

A/T mutagenesis in hypermutated immunoglobulin genes strongly depends on PCNAK164 modification.

Langerak P, Nygren AO, Krijger PH, van den Berk PC, Jacobs H.

J Exp Med. 2007 Aug 6;204(8):1989-98. Epub 2007 Jul 30.

26.

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.

Beetz C, Nygren AO, Deufel T, Reid E.

Neurogenetics. 2007 Nov;8(4):317-8. Epub 2007 Jul 27. No abstract available.

PMID:
17657515
27.

Selective induction of chemotherapy resistance of mammary tumors in a conditional mouse model for hereditary breast cancer.

Rottenberg S, Nygren AO, Pajic M, van Leeuwen FW, van der Heijden I, van de Wetering K, Liu X, de Visser KE, Gilhuijs KG, van Tellingen O, Schouten JP, Jonkers J, Borst P.

Proc Natl Acad Sci U S A. 2007 Jul 17;104(29):12117-22. Epub 2007 Jul 11.

28.

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.

Hum Mutat. 2007 Jul;28(7):739-40. No abstract available.

PMID:
17345589
29.

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.

Mol Cell Probes. 2007 Jun;21(3):208-15. Epub 2007 Jan 12.

PMID:
17303379
30.
31.

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.

Hum Mutat. 2007 Feb;28(2):207.

PMID:
17221866
32.

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.

Neurology. 2006 Dec 12;67(11):1926-30. Epub 2006 Oct 11.

PMID:
17035675
33.

Epigenetic events of disease progression in head and neck squamous cell carcinoma.

Worsham MJ, Chen KM, Meduri V, Nygren AO, Errami A, Schouten JP, Benninger MS.

Arch Otolaryngol Head Neck Surg. 2006 Jun;132(6):668-77.

PMID:
16785414
34.

Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA.

Langerak P, Nygren AO, Schouten JP, Jacobs H.

Nucleic Acids Res. 2005 Dec 9;33(22):e188.

35.

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.

Nygren AO, Ameziane N, Duarte HM, Vijzelaar RN, Waisfisz Q, Hess CJ, Schouten JP, Errami A.

Nucleic Acids Res. 2005 Aug 16;33(14):e128.

36.

Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.

Meuller J, Kanter-Smoler G, Nygren AO, Errami A, Grönberg H, Holmberg E, Björk J, Wahlström J, Nordling M.

Genet Test. 2004 Fall;8(3):248-56.

PMID:
15727247
37.

Screening for large mutations of the NF2 gene.

Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M, Mautner V.

Genes Chromosomes Cancer. 2005 Apr;42(4):384-91.

PMID:
15645494

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