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EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH. Oegema R, et al. Among authors: mancini gms. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11. Am J Med Genet C Semin Med Genet. 2019. PMID: 31710781 Free PMC article. Review.
Three new families with arterial tortuosity syndrome.
Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ. Wessels MW, et al. Am J Med Genet A. 2004 Dec 1;131(2):134-43. doi: 10.1002/ajmg.a.30272. Am J Med Genet A. 2004. PMID: 15529317
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. 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.
Re: polymicrogyria versus pachygyria in 22q11 microdeletion.
de Wit MC, Lequin MH, de Coo RF, Mancini GM. de Wit MC, et al. 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.
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. 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
192 results