Mannens MMAM - Search Results

1

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics.

Krzyzewska IM, Alders M, Maas SM, Bliek J, Venema A, Henneman P, Rezwan FI, Lip KVD, Mul AN, Mackay DJG, Mannens MMAM. Krzyzewska IM, et al. Among authors: mannens mmam. Clin Epigenetics. 2019 Mar 21;11(1):53. doi: 10.1186/s13148-019-0649-6. Clin Epigenetics. 2019. PMID: 30898153 Free PMC article.

2

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

Bliek J, Snijder S, Maas SM, Polstra A, van der Lip K, Alders M, Knegt AC, Mannens MM. Bliek J, et al. Eur J Med Genet. 2009 Nov-Dec;52(6):404-8. doi: 10.1016/j.ejmg.2009.08.006. Epub 2009 Sep 6. Eur J Med Genet. 2009. PMID: 19735747

3

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.

Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC. Postma AV, et al. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253444

4

Oxytocin receptor gene methylation in male and female PTSD patients and trauma-exposed controls.

Nawijn L, Krzyzewska IM, van Zuiden M, Henneman P, Koch SBJ, Mul AN, Frijling JL, Veltman DJ, Mannens MMAM, Olff M. Nawijn L, et al. Among authors: mannens mmam. Eur Neuropsychopharmacol. 2019 Jan;29(1):147-155. doi: 10.1016/j.euroneuro.2018.10.006. Epub 2018 Nov 8. Eur Neuropsychopharmacol. 2019. PMID: 30415783

5

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. Krzyzewska IM, et al. Among authors: mannens mmam. Clin Epigenetics. 2019 Nov 4;11(1):156. doi: 10.1186/s13148-019-0749-3. Clin Epigenetics. 2019. PMID: 31685013 Free PMC article.

6

Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.

Mannens MMAM, Lombardi MP, Alders M, Henneman P, Bliek J. Mannens MMAM, et al. Front Genet. 2022 Jul 4;13:831452. doi: 10.3389/fgene.2022.831452. eCollection 2022. Front Genet. 2022. PMID: 35860466 Free PMC article. Review.

7

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MM, Van Berckelaer-Onnes I, Hennekam RC. Bhuiyan ZA, et al. J Med Genet. 2006 Jul;43(7):568-75. doi: 10.1136/jmg.2005.038240. Epub 2005 Oct 19. J Med Genet. 2006. PMID: 16236812 Free PMC article.

8

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G, Dubosq-Bidot L, Sebillon P, Mannens MM, Guicheney P, Wilde AA. Postma AV, et al. J Med Genet. 2005 Nov;42(11):863-70. doi: 10.1136/jmg.2004.028993. J Med Genet. 2005. PMID: 16272262 Free PMC article.

9

Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.

Lombardi MP, Redeker EJ, van Gent DH, Smeele KL, Weerdesteijn R, Mannens MM. Lombardi MP, et al. Genet Test. 2006 Summer;10(2):77-84. doi: 10.1089/gte.2006.10.77. Genet Test. 2006. PMID: 16792510

10

The IGSF1 deficiency syndrome: characteristics of male and female patients.

Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS. Joustra SD, et al. J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9. J Clin Endocrinol Metab. 2013. PMID: 24108313

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