Maas SM - Search Results

1

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

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

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

6

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.

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

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

Wilson LC, Ajayi-Obe E, Bernhard B, Maas SM. Wilson LC, et al. Among authors: maas sm. Am J Med Genet A. 2006 Dec 1;140(23):2625-30. doi: 10.1002/ajmg.a.31374. Am J Med Genet A. 2006. PMID: 16906569

9

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

10

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ. Kroes HY, et al. Among authors: maas sm. Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. doi: 10.1016/j.ejmg.2007.10.001. Epub 2007 Oct 6. Eur J Med Genet. 2008. PMID: 18054307

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