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Items: 1 to 20 of 143

1.

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F.

Am J Med Genet A. 2005 Apr 30;134(3):247-53.

PMID:
15742365
2.

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.

3.

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.

4.

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.

5.

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.

Sohn YB, Lee CG, Ko JM, Yang JA, Yun JN, Jung EJ, Jin HS, Park SJ, Jeong SY.

J Hum Genet. 2013 Feb;58(2):73-7. doi: 10.1038/jhg.2012.135. Epub 2012 Nov 29.

PMID:
23190751
6.

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
7.

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration.

Am J Hum Genet. 2005 Aug;77(2):193-204. Epub 2005 Jun 7.

8.

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
9.

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
10.

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
11.

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S.

Genet Med. 2005 Oct;7(8):524-33.

PMID:
16247291
12.

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM.

Horm Res. 2004;62(4):197-207. Epub 2004 Sep 24.

PMID:
15452385
13.

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.

14.

Molecular basis of Sotos syndrome.

Niikawa N.

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

PMID:
15539801
15.

Clinical features of NSD1-positive Sotos syndrome.

Tatton-Brown K, Rahman N.

Clin Dysmorphol. 2004 Oct;13(4):199-204.

PMID:
15365454
16.

Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.

Wejaphikul K, Cho SY, Huh R, Kwun Y, Lee J, Ki CS, Jin DK.

Ann Clin Lab Sci. 2015 Spring;45(2):215-8.

PMID:
25887879
17.

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.

Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, Lee JY.

Am J Med Genet A. 2011 Jun;155A(6):1374-8. doi: 10.1002/ajmg.a.33769. Epub 2011 May 12.

PMID:
21567906
18.
19.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration.

J Med Genet. 2005 Apr;42(4):307-13.

20.

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U.

Am J Med Genet A. 2013 Sep;161A(9):2158-66. doi: 10.1002/ajmg.a.36046. Epub 2013 Aug 2.

PMID:
23913520

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