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Items: 1 to 20 of 190

1.

Clinical and molecular overlap in overgrowth syndromes.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Colleaux L, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):4-11. Erratum in: Am J Med Genet C Semin Med Genet. 2006 Feb 15;142(1):59.

PMID:
16010674
2.

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R.

Am J Med Genet. 2001 Aug 1;102(2):161-8.

PMID:
11477610
3.

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N.

Am J Hum Genet. 2003 Jan;72(1):132-43. Epub 2002 Dec 2.

4.

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L.

Am J Hum Genet. 2004 Apr;74(4):715-20. Epub 2004 Mar 1.

5.

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D.

Eur J Hum Genet. 2003 Nov;11(11):858-65.

6.

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V.

J Med Genet. 2003 Jun;40(6):436-40.

7.

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
8.

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.

Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G.

Hum Mol Genet. 2000 May 22;9(9):1321-8.

PMID:
10814714
9.

Overgrowth syndromes and genomic imprinting: from mouse to man.

Li M, Squire JA, Weksberg R.

Clin Genet. 1998 Mar;53(3):165-70. Review.

PMID:
9630066
10.

The Simpson-Golabi-Behmel gene, GPC3, is not involved in sporadic Wilms tumorigenesis.

Gillan TL, Hughes R, Godbout R, Grundy PE.

Am J Med Genet A. 2003 Sep 15;122A(1):30-6.

PMID:
12949968
11.

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
12.

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. doi: 10.1016/j.ejmg.2009.07.001. Epub 2009 Jul 9.

PMID:
19596467
13.

The overlap between Sotos and Beckwith-Wiedemann syndromes.

Mussa A, Chiesa N, Porta F, Baldassarre G, Silengo MC, Ferrero GB.

J Pediatr. 2010 Jun;156(6):1035-6; author reply 1036. doi: 10.1016/j.jpeds.2010.02.063. Epub 2010 Apr 14. No abstract available.

PMID:
20394943
14.

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T.

Eur J Med Genet. 2006 Sep-Oct;49(5):414-8. Epub 2006 Mar 29.

PMID:
16603426
15.

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
16.

Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?

Kanemoto N, Kanemoto K, Nishimura G, Kamoda T, Visser R, Shimokawa O, Matsumoto N.

Am J Med Genet A. 2006 Jan 1;140(1):70-3.

PMID:
16329110
17.

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.

18.

Two cases of Sotos syndrome with novel mutations of the NSD1 gene.

Fryssira H, Drossatou P, Sklavou R, Barambouti F, Manolaki N.

Genet Couns. 2010;21(1):53-9.

PMID:
20420030
19.

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.

Eggermann T.

Horm Res. 2009 Apr;71 Suppl 2:30-5. doi: 10.1159/000192433. Epub 2009 Apr 29. Review.

PMID:
19407494
20.

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