Maas SM - Search Results

1

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Among authors: maas sm. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832

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

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

4

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

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

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.

7

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

8

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. Among authors: maas sm. 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.

9

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC. Maas SM, et al. J Med Genet. 2009 Oct;46(10):716-20. doi: 10.1136/jmg.2009.068403. Epub 2009 Jul 7. J Med Genet. 2009. PMID: 19586929

10

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. Among authors: maas sm. 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

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