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Year | Number of Results |
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2010 | 1 |
2012 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
PubMed (cited) for id: 614753
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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016.
PMID: 26927468
Free article.
Review.
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Martinez F, Marín-Reina P, Sanchis-Calvo A, Perez-Aytés A, Oltra S, Roselló M, Mayo S, Monfort S, Pantoja J, Orellana C.
Martinez F, et al.
Pediatr Res. 2015 Nov;78(5):533-9. doi: 10.1038/pr.2015.135. Epub 2015 Jul 22.
Pediatr Res. 2015.
PMID: 26200704
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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N.
Yoneda Y, et al.
J Hum Genet. 2012 Mar;57(3):207-11. doi: 10.1038/jhg.2012.7. Epub 2012 Feb 2.
J Hum Genet. 2012.
PMID: 22301465
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Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V.
Malan V, et al.
Am J Hum Genet. 2010 Aug 13;87(2):189-98. doi: 10.1016/j.ajhg.2010.07.001. Epub 2010 Jul 30.
Am J Hum Genet. 2010.
PMID: 20673863
Free PMC article.
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