2024

Priolo M. NFIX-related Malan syndrome. 2024 Aug 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 

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Huynh TN et al. Natural history in Malan syndrome: survey of 28 adults and literature review. Orphanet J Rare Dis. 2024 Jul 29;19(1):282. 

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Grens K et al. Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment. Ther Adv Rare Dis. 2024 May 31;5:26330040241254123.

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2022

Alfieri P et al. Characterization of cognitive, language and adaptive profiles of children and adolescents with Malan syndrome. J Clin Med. 2022, 11(14):4078.

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Macchiaiolo M et al. A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report. Orphanet J Rare Dis. 2022, 17(1):235.

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2020

Tabata K et al. A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding. J Neurol Sci. 2020, 412:116758.

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Mulder PA et al. Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes. J Intellect Disabil Res. 2020, Oct 9.

 

2018

Oishi S et al. Heterozygosity for Nuclear Factor One X in mice model features of Malan syndrome. EBioMedicine. 2018, Nov 29. pii: S2352-3964(18)30548-6. 

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Priolo M et al. Further delineation of Malan syndrome. Hum Mutat. 2018, 39 (9):1226-1237.

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2017

Lu Y et al. Mutations in NSD1 and NFIX in three patients with clinical features of Sotos syndrome and Malan syndrome. J Pediatr Genet. 2017 Dec;6(4):234-237.

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Oshima T et al. A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysms and dissection. Hum Genome Var. 2017 Jun 1;4:17022.

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2016

Dong HY et al. 19p13.2 microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome. Mol Cytogenet. 2016 Sep 22;9:71. 

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Jezela-Stanek A et al. 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.

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2015

Gurrieri F et al. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patient series. Eur J Med Genet. 2015 Sep;58(9):488-91.

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Shimojima K et al. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. Am J Med Genet A. 2015 Apr;167A(4):724-30.

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Klaassens M et al. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. Eur J Hum Genet. 2015 May;23(5):610-5. 

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Martinez F et al. Novel mutations of the NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatr Res. 2015 Nov;78(5):533-9.

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Welham A et al. Behavioral characteristics associated with 19p13.2 microdeletions. Am J Med Genet A. 2015 Oct;167A(10):2334-43.

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2013

Harris L et al. Heterozygosity for nuclear factor one x affects hippocampal-dependent behaviour in mice. PLoS One. 2013 Jun 11;8(6):e65478.

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2010

Malan V et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010 Aug 13;87(2):189-98.