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

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

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

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 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

Sotos syndrome.

Baujat G, Cormier-Daire V.

Orphanet J Rare Dis. 2007 Sep 7;2:36. Review.PMID: 17825104 [PubMed - indexed for MEDLINE]Related articlesFree article

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L.

Hum Mutat. 2007 Nov;28(11):1098-107.PMID: 17565729 [PubMed - indexed for MEDLINE]Related articles

Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.

Duno M, Skovby F, Schwartz M.

Ann Hum Genet. 2007 Nov;71(Pt 6):713-8. Epub 2007 Jun 11.PMID: 17561922 [PubMed - indexed for MEDLINE]Related articles

Sotos syndrome is associated with leukemia/lymphoma.

Martínez-Glez V, Lapunzina P.

Am J Med Genet A. 2007 Jun 1;143A(11):1244-5. No abstract available. PMID: 17480008 [PubMed - indexed for MEDLINE]Related articles

Diagnosing Sotos syndrome in the setting of global developmental delay and macrocephaly.

Srour M, Mazer B, Shevell MI.

J Child Neurol. 2006 Apr;21(4):287-90.PMID: 16900922 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Follow-up and risk of tumors in overgrowth syndromes.

Gracia Bouthelier R, Lapunzina P.

J Pediatr Endocrinol Metab. 2005 Dec;18 Suppl 1:1227-35. Review.PMID: 16398453 [PubMed - indexed for MEDLINE]Related articles

Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.

Cytrynbaum CS, Smith AC, Rubin T, Weksberg R.

Curr Opin Pediatr. 2005 Dec;17(6):740-6. Review.PMID: 16282780 [PubMed - indexed for MEDLINE]Related articles

Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions.

Visser R, Shimokawa O, Harada N, Niikawa N, Matsumoto N.

J Med Genet. 2005 Nov;42(11):e66.PMID: 16272258 [PubMed - indexed for MEDLINE]Related articlesFree article

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

Tong TM, Hau EW, Lo IF, Chan DH, Lam ST.

Chin Med J (Engl). 2005 Sep 20;118(18):1499-506.PMID: 16232326 [PubMed - indexed for MEDLINE]Related articlesFree article

Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations.

de Boer L, le Cessie S, Wit JM.

Acta Paediatr. 2005 Aug;94(8):1142-4.PMID: 16188863 [PubMed - indexed for MEDLINE]Related articles

Risk of tumorigenesis in overgrowth syndromes: a comprehensive review.

Lapunzina P.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):53-71. Review.PMID: 16010678 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles