de Coo IF - Search Results

1

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Mancini GM, et al. Among authors: de coo if. Am J Med Genet A. 2005 Jan 30;132A(3):288-95. doi: 10.1002/ajmg.a.30473. Am J Med Genet A. 2005. PMID: 15690373

2

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Breedveld G, et al. Among authors: de coo if. J Med Genet. 2006 Jun;43(6):490-5. doi: 10.1136/jmg.2005.035584. Epub 2005 Aug 17. J Med Genet. 2006. PMID: 16107487 Free PMC article.

3

Hereditary porencephaly: clinical and MRI findings in two Dutch families.

Mancini GM, de Coo IF, Lequin MH, Arts WF. Mancini GM, et al. Among authors: de coo if. Eur J Paediatr Neurol. 2004;8(1):45-54. doi: 10.1016/j.ejpn.2003.10.002. Eur J Paediatr Neurol. 2004. PMID: 15023374

4

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM. de Wit MC, et al. Among authors: de coo if, de klerk jb. Mol Genet Metab. 2006 Feb;87(2):102-6. doi: 10.1016/j.ymgme.2005.09.009. Epub 2005 Nov 4. Mol Genet Metab. 2006. PMID: 16275149

5

Lung disease in FLNA mutation: confirmatory report.

de Wit MC, Tiddens HA, de Coo IF, Mancini GM. de Wit MC, et al. Among authors: de coo if. Eur J Med Genet. 2011 May-Jun;54(3):299-300. doi: 10.1016/j.ejmg.2010.12.009. Epub 2010 Dec 29. Eur J Med Genet. 2011. PMID: 21194575

6

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM. Verkerk AJ, et al. Among authors: de coo if, de graaff e. Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25. Am J Hum Genet. 2009. PMID: 19559397 Free PMC article.

7

Periventricular nodular heterotopia and distal limb deficiency: a recurrent association.

de Wit MC, de Coo IF, Schot R, Hoogeboom AJ, Lequin MH, Verkerk AJ, Mancini GM. de Wit MC, et al. Among authors: de coo if. Am J Med Genet A. 2010 Apr;152A(4):954-9. doi: 10.1002/ajmg.a.33258. Am J Med Genet A. 2010. PMID: 20358608

8

Novel no-stop FLNA mutation causes multi-organ involvement in males.

Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS. Oegema R, et al. Among authors: de coo if, de wit mc. Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19. Am J Med Genet A. 2013. PMID: 23873601

9

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.

de Wit MC, de Coo IF, Halley DJ, Lequin MH, Mancini GM. de Wit MC, et al. Among authors: de coo if. Neurogenetics. 2009 Oct;10(4):333-6. doi: 10.1007/s10048-009-0192-2. Epub 2009 Apr 22. Neurogenetics. 2009. PMID: 19384555 Free PMC article.

10

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.

de Wit MC, Kros JM, Halley DJ, de Coo IF, Verdijk R, Jacobs BC, Mancini GM. de Wit MC, et al. Among authors: de coo if. J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):426-8. doi: 10.1136/jnnp.2008.149419. J Neurol Neurosurg Psychiatry. 2009. PMID: 19289478

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