Mannens MMAM - Search Results

1

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, Henneman P, Venema A, Schwartz CE, Stevenson RE, Skinner SA, DuPont BR, Fletcher RS, Balci TB, Siu VM, Granadillo JL, Masters J, Kadour M, Friez MJ, van Haelst MM, Mannens MMAM, Louie RJ, Lee JA, Tedder ML, Alders M. Sadikovic B, et al. Among authors: mannens mmam. Genet Med. 2021 Jun;23(6):1065-1074. doi: 10.1038/s41436-020-01096-4. Epub 2021 Feb 5. Genet Med. 2021. PMID: 33547396 Free PMC article.

2

A locus for hereditary capillary malformations mapped on chromosome 5q.

Breugem CC, Alders M, Salieb-Beugelaar GB, Mannens MM, Van der Horst CM, Hennekam RC. Breugem CC, et al. Hum Genet. 2002 Apr;110(4):343-7. doi: 10.1007/s00439-002-0700-z. Epub 2002 Mar 2. Hum Genet. 2002. PMID: 11941483

3

Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.

Koopmann TT, Alders M, Jongbloed RJ, Guerrero S, Mannens MM, Wilde AA, Bezzina CR. Koopmann TT, et al. Heart Rhythm. 2006 Jan;3(1):52-5. doi: 10.1016/j.hrthm.2005.10.014. Heart Rhythm. 2006. PMID: 16399053

4

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.

Koopmann TT, Beekman L, Alders M, Meregalli PG, Mannens MM, Moorman AF, Wilde AA, Bezzina CR. Koopmann TT, et al. Heart Rhythm. 2007 Jun;4(6):752-5. doi: 10.1016/j.hrthm.2007.02.021. Epub 2007 Mar 2. Heart Rhythm. 2007. PMID: 17556197

5

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.

Bhuiyan ZA, Momenah TS, Amin AS, Al-Khadra AS, Alders M, Wilde AA, Mannens MM. Bhuiyan ZA, et al. Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):319-27. doi: 10.1016/j.pbiomolbio.2008.10.004. Epub 2008 Nov 5. Prog Biophys Mol Biol. 2008. PMID: 19027783 Free article.

6

Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.

Alders M, Koopmann TT, Christiaans I, Postema PG, Beekman L, Tanck MW, Zeppenfeld K, Loh P, Koch KT, Demolombe S, Mannens MM, Bezzina CR, Wilde AA. Alders M, et al. Am J Hum Genet. 2009 Apr;84(4):468-76. doi: 10.1016/j.ajhg.2009.02.009. Epub 2009 Mar 12. Am J Hum Genet. 2009. PMID: 19285295 Free PMC article.

7

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.

Bliek J, Alders M, Maas SM, Oostra RJ, Mackay DM, van der Lip K, Callaway JL, Brooks A, van 't Padje S, Westerveld A, Leschot NJ, Mannens MM. Bliek J, et al. Eur J Hum Genet. 2009 Dec;17(12):1625-34. doi: 10.1038/ejhg.2009.77. Epub 2009 Jun 10. Eur J Hum Genet. 2009. PMID: 19513094 Free PMC article.

8

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. Alders M, et al. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484. Nat Genet. 2009. PMID: 19935664

9

Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience.

Hofman N, Tan HL, Alders M, Kolder I, de Haij S, Mannens MM, Lombardi MP, Dit Deprez RH, van Langen I, Wilde AA. Hofman N, et al. Circulation. 2013 Oct 1;128(14):1513-21. doi: 10.1161/CIRCULATIONAHA.112.000091. Epub 2013 Aug 20. Circulation. 2013. PMID: 23963746

10

Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood.

Alders M, Maas SM, Kadouch DJ, van der Lip K, Bliek J, van der Horst CM, Mannens MM. Alders M, et al. Eur J Med Genet. 2014 May-Jun;57(6):293-7. doi: 10.1016/j.ejmg.2014.03.011. Epub 2014 Apr 2. Eur J Med Genet. 2014. PMID: 24704790

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