PubMed

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

Fagali C, Kok F, Nicola P, Kim C, Bertola D, Albano L, Koiffmann CP.

Eur J Med Genet. 2009 Sep-Oct;52(5):333-6. Epub 2009 Jul 9.PMID: 19596467 [PubMed - indexed for MEDLINE]Related articles

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.

Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O.

Eur J Med Genet. 2009 Sep-Oct;52(5):306-10. Epub 2009 Jun 21.PMID: 19545651 [PubMed - indexed for MEDLINE]Related articles

Efficacy of methylphenidate treatment in Sotos syndrome.

Niederhofer H.

Horm Res. 2009;71(6):376. Epub 2009 Jun 9. No abstract available. PMID: 19506397 [PubMed - indexed for MEDLINE]Related articles

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. Review.PMID: 19380072 [PubMed - indexed for MEDLINE]Related articles

Spinal deformity in patients with Sotos syndrome (cerebral gigantism).

Tsirikos AI, Demosthenous N, McMaster MJ.

J Spinal Disord Tech. 2009 Apr;22(2):149-53.PMID: 19342938 [PubMed - indexed for MEDLINE]Related articles

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Visser R, Koelma N, Vijfhuizen L, van der Wielen MJ, Kant SG, Breuning MH, Wit JM, Losekoot M.

Am J Med Genet A. 2009 Feb 15;149A(4):806-8. No abstract available. PMID: 19291764 [PubMed - indexed for MEDLINE]Related articles

Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization.

Cho EH, Park BY, Cho JH, Kang YS.

Korean J Lab Med. 2009 Feb;29(1):71-6.PMID: 19262082 [PubMed - indexed for MEDLINE]Related articlesFree article

Overgrowth disorders associated with tall stature.

Sotos JF, Argente J.

Adv Pediatr. 2008;55:213-54. Review. No abstract available. PMID: 19048732 [PubMed - indexed for MEDLINE]Related articles

Three novel mutations in greek sotos patients with rare clinical manifestations.

Leventopoulos G, Kitsiou-Tzeli S, Psoni S, Mavrou A, Kanavakis E, Willems P, Fryssira H.

Horm Res. 2009 Jan;71(1):45-51. Epub 2008 Nov 27.PMID: 19039236 [PubMed - indexed for MEDLINE]Related articles

Weaver syndrome and neuroblastoma.

Coulter D, Powell CM, Gold S.

J Pediatr Hematol Oncol. 2008 Oct;30(10):758-60.PMID: 19011474 [PubMed - indexed for MEDLINE]Related articles

Gene symbol: NSD1. Disease: Sotos syndrome.

Ellison J.

Hum Genet. 2008 Oct;124(3):311. No abstract available. PMID: 18846652 [PubMed - indexed for MEDLINE]Related articles

Deletion 22q13.3 syndrome.

Phelan MC.

Orphanet J Rare Dis. 2008 May 27;3:14.PMID: 18505557 [PubMed - indexed for MEDLINE]Related articlesFree article

Alu-related 5q35 microdeletions in Sotos syndrome.

Mochizuki J, Saitsu H, Mizuguchi T, Nishimura A, Visser R, Kurotaki N, Miyake N, Unno N, Matsumoto N.

Clin Genet. 2008 Oct;74(4):384-91. Epub 2008 May 25.PMID: 18505455 [PubMed - indexed for MEDLINE]Related articles

Sotos syndrome: antenatal presentation.

Thomas A, Lemire EG.

Am J Med Genet A. 2008 May 15;146A(10):1312-3.PMID: 18386800 [PubMed - indexed for MEDLINE]Related articles

Multiple giant pilomatricoma in familial Sotos syndrome.

Gilaberte Y, Ferrer-Lozano M, Oliván MJ, Coscojuela C, Abascal M, Lapunzina P.

Pediatr Dermatol. 2008 Jan-Feb;25(1):122-5. Review.PMID: 18304174 [PubMed - indexed for MEDLINE]Related articles

Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology.

Peppink D, Douma-Kloppenburg DD, de Rooij-Askes ES, van Zoest IM, Evenhuis HM, Gille JJ, van Hagen JM.

J Intellect Disabil Res. 2008 Jan;52(Pt 1):59-67.PMID: 18173573 [PubMed - indexed for MEDLINE]Related articles

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.

Malan V, De Blois MC, Prieur M, Perrier-Waill MC, Huguet-Nedjar C, Gegas L, Turleau C, Vekemans M, Munnich A, Romana SP.

Clin Genet. 2008 Jan;73(1):89-91. Epub 2007 Nov 27. No abstract available. PMID: 18042263 [PubMed - indexed for MEDLINE]Related articles

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

Buxbaum JD, Cai G, Nygren G, Chaste P, Delorme R, Goldsmith J, Råstam M, Silverman JM, Hollander E, Gillberg C, Leboyer M, Betancur C.

BMC Med Genet. 2007 Nov 14;8:68.PMID: 18001468 [PubMed - indexed for MEDLINE]Related articlesFree article

Dentofacial growth in patients with Sotos syndrome.

Takei K, Sueishi K, Yamaguchi H, Ohtawa Y.

Bull Tokyo Dent Coll. 2007 May;48(2):73-85.PMID: 17978548 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles