Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 11

1.

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.

Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW.

Eur J Hum Genet. 2010 Feb;18(2):258-61. doi: 10.1038/ejhg.2009.164.

2.

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

Žilina O, Reimand T, Tammur P, Tillmann V, Kurg A, Õunap K.

Eur J Med Genet. 2013 Apr;56(4):202-6. doi: 10.1016/j.ejmg.2013.01.008. Review.

PMID:
23369838
3.

Molecular basis of Sotos syndrome.

Niikawa N.

Horm Res. 2004;62 Suppl 3:60-5. Review.

PMID:
15539801
4.

NSD1 mutations in Sotos syndrome.

Faravelli F.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):24-31. Review.

PMID:
16010675
5.

A clinical study of Sotos syndrome patients with review of the literature.

Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H.

Pediatr Neurol. 2009 May;40(5):357-64. doi: 10.1016/j.pediatrneurol.2008.11.013. Review.

PMID:
19380072
6.

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE.

Am J Med Genet A. 2011 Sep;155A(9):2105-11. doi: 10.1002/ajmg.a.34156. Review.

PMID:
21834047
7.

Chromosome 5q subtelomeric deletion syndrome.

Rauch A, Dörr HG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):372-6. Review.

PMID:
17910075
8.

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

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.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Review.

9.

Sotos syndrome 1 and 2.

Sotos JF.

Pediatr Endocrinol Rev. 2014 Sep;12(1):2-16. Review.

PMID:
25345081
10.

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

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.

Eur J Hum Genet. 2015 May;23(5):610-5. doi: 10.1038/ejhg.2014.162. Review.

11.

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

Chen CP, Lin SP, Lin CC, Chen YJ, Chern SR, Li YC, Hsieh LJ, Lee CC, Pan CW, Wang W.

Am J Med Genet A. 2006 Jul 15;140(14):1594-600. Review.

PMID:
16770806
Items per page

Supplemental Content

Support Center