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Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM. Meuwissen ME, et al. Among authors: lequin mh. J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20. J Exp Med. 2016. PMID: 27325888 Free PMC article. Clinical Trial.
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: lequin mh. 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. Among authors: lequin mh. 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. Among authors: lequin mh. 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
Venous subtypes of preterm periventricular haemorrhagic infarction.
Dudink J, Lequin M, Weisglas-Kuperus N, Conneman N, van Goudoever JB, Govaert P. Dudink J, et al. Arch Dis Child Fetal Neonatal Ed. 2008 May;93(3):F201-6. doi: 10.1136/adc.2007.118067. Epub 2007 Sep 3. Arch Dis Child Fetal Neonatal Ed. 2008. PMID: 17768152
271 results