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PUBLICATIONS ON MALAN SYNDROME AND THE NFIX GENE

2018

Oishi S, Harkins D, Kurniawan ND, Kasherman M, Harris L, Zalucki O, Gronostajski RM, Burne THJ, Piper M. Heterozygosity for Nuclear Factor One X in mice model features of Malan syndrome. EBioMedicine. 2018, Nov 29. pii: S2352-3964(18)30548-6. 

Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Further delineation of Malan syndrome. Hum Mutat. 2018, 39 (9):1226-1237.

2017

Lu Y, Chong PF, Kira R, Seto T, Ondo Y, Shimojima K, Yamamoto T. 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.

Oshima T, Hara H, Takeda N, Hasumi E, Kuroda Y, Taniguchi G, Inuzuka R, Nawata K, Morita H, Komuro I. 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.

2016

Dong HY, Zeng H, Hu YQ, Xie L, Wang J, Wang XY, Yang YF, Tan ZP. 19p13.2 microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome. Mol Cytogenet. 2016 Sep 22;9:71. 

Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. 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.

2015

Gurrieri F, Cavaliere ML, Wischmeijer A, Mammì C, Neri G, Pisanti MA, Rodella G, Laganà C, Priolo M. 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.

Shimojima K, Okamoto N, Tamasaki A, Sangu N, Shimada S, Yamamoto T. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. Am J Med Genet A. 2015 Apr;167A(4):724-30.

Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH. 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. 

Martinez F, Marín-Reina P, Sanchis-Calvo A, Perez-Aytés A, Oltra S, Roselló M, Mayo S, Monfort S, Pantoja J, Orellana C. 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.

Welham A, Barth B, Moss J, Penhallow J, Sheth K, Wilde L, Wynn S, Oliver C. Behavioral characteristics associated with 19p13.2 microdeletions. Am J Med Genet A. 2015 Oct;167A(10):2334-43.

2013

Harris L, Dixon C, Cato K, Heng YH, Kurniawan ND, Ullmann JF, Janke AL, Gronostajski RM, Richards LJ, Burne TH, Piper M. Heterozygosity for nuclear factor one x affects hippocampal-dependent behaviour in mice. PLoS One. 2013 Jun 11;8(6):e65478.

2010

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. 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.