Maas SM - Search Results

1

Variants in KAT6A and pituitary anomalies.

Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg ASP, Hennekam RCM. Zwaveling-Soonawala N, et al. Among authors: maas sm. Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636259 No abstract available.

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

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

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. 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.

8

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

9

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

10

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

Barge-Schaapveld DQ, Maas SM, Polstra A, Knegt LC, Hennekam RC. Barge-Schaapveld DQ, et al. Among authors: maas sm. Am J Med Genet A. 2011 May;155A(5):1066-72. doi: 10.1002/ajmg.a.33991. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465664

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