Mancini GM - Search Results

1

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

de Wit MC, de Coo IF, Julier C, Delépine M, Lequin MH, van de Laar I, Sibbles BJ, Bruining GJ, Mancini GM. de Wit MC, et al. Among authors: mancini gm. Neurogenetics. 2006 Nov;7(4):259-63. doi: 10.1007/s10048-006-0061-1. Epub 2006 Sep 14. Neurogenetics. 2006. PMID: 16972080

2

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

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

3

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. 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

4

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: mancini gm. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.

5

Re: polymicrogyria versus pachygyria in 22q11 microdeletion.

de Wit MC, Lequin MH, de Coo RF, Mancini GM. de Wit MC, et al. Among authors: mancini gm. Am J Med Genet A. 2005 Aug 1;136A(4):419; author reply 420-1. doi: 10.1002/ajmg.a.30741. Am J Med Genet A. 2005. PMID: 16001437 No abstract available.

6

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: mancini gm. 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.

7

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: mancini gm. 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

8

A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis.

van Ramshorst GH, Lequin MH, Mancini GM, van de Ven CP. van Ramshorst GH, et al. Among authors: mancini gm. J Pediatr Surg. 2006 Dec;41(12):e19-23. doi: 10.1016/j.jpedsurg.2006.09.070. J Pediatr Surg. 2006. PMID: 17161173

9

Extensive cerebral infarction in the newborn due to incontinentia pigmenti.

Maingay-de Groof F, Lequin MH, Roofthooft DW, Oranje AP, de Coo IF, Bok LA, van der Spek PJ, Mancini GM, Govaert PP. Maingay-de Groof F, et al. Among authors: mancini gm. Eur J Paediatr Neurol. 2008 Jul;12(4):284-9. doi: 10.1016/j.ejpn.2007.09.001. Epub 2007 Oct 22. Eur J Paediatr Neurol. 2008. PMID: 17950640

10

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

de Wit MC, Lequin MH, de Coo IF, Brusse E, Halley DJ, van de Graaf R, Schot R, Verheijen FW, Mancini GM. de Wit MC, et al. Among authors: mancini gm. Arch Neurol. 2008 Mar;65(3):358-66. doi: 10.1001/archneur.65.3.358. Arch Neurol. 2008. PMID: 18332248

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