Mannens M - Search Results

1

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: mannens m. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.

2

Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3.

Redeker E, Alders M, Hoovers JM, Richard CW 3rd, Westerveld A, Mannens M. Redeker E, et al. Among authors: mannens m. Cytogenet Cell Genet. 1995;68(3-4):222-5. doi: 10.1159/000133917. Cytogenet Cell Genet. 1995. PMID: 7842740

3

Further delineation of the partial proximal trisomy 10q syndrome.

Aalfs CM, Hoovers JM, Nieste-Otter MA, Mannens MM, Hennekam RC, Leschot NJ. Aalfs CM, et al. Among authors: mannens mm. J Med Genet. 1995 Dec;32(12):968-71. doi: 10.1136/jmg.32.12.968. J Med Genet. 1995. PMID: 8825926 Free PMC article.

4

Genomic imprinting: concept and clinical consequences.

Mannens M, Alders M. Mannens M, et al. Ann Med. 1999 Feb;31(1):4-11. doi: 10.3109/07853899909019258. Ann Med. 1999. PMID: 10219710 Review.

5

Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome.

Alders M, Ryan A, Hodges M, Bliek J, Feinberg AP, Privitera O, Westerveld A, Little PF, Mannens M. Alders M, et al. Among authors: mannens m. Am J Hum Genet. 2000 May;66(5):1473-84. doi: 10.1086/302892. Epub 2000 Apr 10. Am J Hum Genet. 2000. PMID: 10762538 Free PMC article.

6

Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.

Postma AV, Bezzina CR, de Vries JF, Wilde AA, Moorman AF, Mannens MM. Postma AV, et al. Among authors: mannens mm. Hum Genet. 2000 Jun;106(6):614-9. doi: 10.1007/s004390000308. Hum Genet. 2000. PMID: 10942109

7

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. Bliek J, et al. Among authors: mannens mm. Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467. Hum Mol Genet. 2001. PMID: 11181570

8

Chromosomal region 11p15 is associated with male factor subfertility.

Gianotten J, van der Veen F, Alders M, Leschot NJ, Tanck MW, Land JA, Kremer JA, Hoefsloot LH, Mannens MM, Lombardi MP, Hoffer MJ. Gianotten J, et al. Among authors: mannens mm. Mol Hum Reprod. 2003 Oct;9(10):587-92. doi: 10.1093/molehr/gag081. Mol Hum Reprod. 2003. PMID: 12970396

9

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.

Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M. Bliek J, et al. Among authors: mannens m. Am J Hum Genet. 2006 Apr;78(4):604-14. doi: 10.1086/502981. Epub 2006 Mar 1. Am J Hum Genet. 2006. PMID: 16532391 Free PMC article.

10

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

Alders M, Bliek J, vd Lip K, vd Bogaard R, Mannens M. Alders M, et al. Among authors: mannens m. Eur J Hum Genet. 2009 Apr;17(4):467-73. doi: 10.1038/ejhg.2008.197. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854861 Free PMC article.

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