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Page 1
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Among authors: jansweijer mc. Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28. Am J Med Genet A. 2012. PMID: 23023959
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Among authors: jansweijer mc. Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333897 Free PMC article.
Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.
van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJ, Gille JJ, Govaerts LC, Wouters CH, de Coo IF, Hoogenraad CC, Koekkoek SK, Frens MA, van Camp N, van der Linden A, Jansweijer MC, Thorgeirsson SS, De Zeeuw CI. van Hagen JM, et al. Among authors: jansweijer mc. Neurobiol Dis. 2007 Apr;26(1):112-24. doi: 10.1016/j.nbd.2006.12.009. Epub 2006 Dec 20. Neurobiol Dis. 2007. PMID: 17270452
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. Dai J, et al. Among authors: jansweijer mc. J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577006
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
Menko FH, Kneepkens CM, de Leeuw N, Peeters EA, Van Maldergem L, Kamsteeg EJ, Davidson R, Rozendaal L, Lasham CA, Peeters-Scholte CM, Jansweijer MC, Hilhorst-Hofstee Y, Gille JJ, Heins YM, Nieuwint AW, Sistermans EA. Menko FH, et al. Among authors: jansweijer mc. Clin Genet. 2008 Aug;74(2):145-54. doi: 10.1111/j.1399-0004.2008.01026.x. Epub 2008 May 28. Clin Genet. 2008. PMID: 18510548 Free article.
Holoprosencephaly associated with ring chromosome 21.
Hoovers JM, Jansweijer MC. Hoovers JM, et al. Among authors: jansweijer mc. Clin Genet. 1987 Sep;32(3):207. doi: 10.1111/j.1399-0004.1987.tb03357.x. Clin Genet. 1987. PMID: 3621668 No abstract available.
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