Maas SM - Search Results

1

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: maas sm. Hum Mol Genet. 2001 Mar 1;10(5):467-76. doi: 10.1093/hmg/10.5.467. Hum Mol Genet. 2001. PMID: 11181570

2

EEC syndrome and genitourinary anomalies: an update.

Maas SM, de Jong TP, Buss P, Hennekam RC. Maas SM, et al. Am J Med Genet. 1996 Jun 14;63(3):472-8. doi: 10.1002/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8737655 Review.

3

[Genes and genetics in Hirschsprung's disease].

Maas SM, Brooks AS, Hennekam RC, Heydendael VM, Wijburg FA, Hofstra RM. Maas SM, et al. Ned Tijdschr Geneeskd. 1999 Jun 26;143(26):1352-6. Ned Tijdschr Geneeskd. 1999. PMID: 10416491 Review. Dutch.

4

Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

Maas SM, Hoovers JM, van Seggelen ME, Menzel DM, Hennekam RC. Maas SM, et al. Clin Dysmorphol. 2000 Jan;9(1):47-53. doi: 10.1097/00019605-200009010-00010. Clin Dysmorphol. 2000. PMID: 10649798

5

Further delineation of Frank-ter Haar syndrome.

Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC. Maas SM, et al. Am J Med Genet A. 2004 Dec 1;131(2):127-33. doi: 10.1002/ajmg.a.30244. Am J Med Genet A. 2004. PMID: 15523657 Review.

6

Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS).

Bliek J, Gicquel C, Maas S, Gaston V, Le Bouc Y, Mannens M. Bliek J, et al. J Pediatr. 2004 Dec;145(6):796-9. doi: 10.1016/j.jpeds.2004.08.007. J Pediatr. 2004. PMID: 15580204

7

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. 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.

8

Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study.

Doornbos ME, Maas SM, McDonnell J, Vermeiden JP, Hennekam RC. Doornbos ME, et al. Among authors: maas sm. Hum Reprod. 2007 Sep;22(9):2476-80. doi: 10.1093/humrep/dem172. Epub 2007 Jun 23. Hum Reprod. 2007. PMID: 17586835

9

Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia.

Bliek J, Maas S, Alders M, Merks JH, Mannens M. Bliek J, et al. J Pediatr. 2008 Jul;153(1):95-100. doi: 10.1016/j.jpeds.2007.12.022. Epub 2008 Mar 7. J Pediatr. 2008. PMID: 18571544

10

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Bliek J, et al. Among authors: maas sm. Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092779 Free PMC article.

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