1 |
Malan V, Chevallier S, Soler G, Coubes C, Lacombe D, Pasquier L, et al. Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth. Eur J Hum Genet 2010;18:227-32.
DOI
|
2 |
Suri M. Approach to the diagnosis of overgrowth syndromes. Indian J Pediatr 2016;83:1175-87.
DOI
|
3 |
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 2005;77:193-204.
DOI
|
4 |
Edmondson AC, Kalish JM. Overgrowth syndromes. J Pediatr Genet 2015;4:136-43.
DOI
|
5 |
Cohen MM Jr. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. Am J Med Genet C Semin Med Genet 2003;117C:49-56.
DOI
|
6 |
Verge CF, Mowat D. Overgrowth. Arch Dis Child 2010;95:458-63.
DOI
|
7 |
Lebl J, Plachy L, Blahova K, Elblova L, Fencl F, Kolouskova S, et al. Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes. Cas Lek Cesk 2017;156:233-40.
|
8 |
Tatton-Brown K, Cole TRP, Rahman N. Sotos syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al, eds. [Internet]. Seattle (WA): University of Washington, 2004 Dec 17 [Updated 2015 Nov 19; cited 2018 May 25]. [https://www.ncbi.nlm.nih.gov/books/NBK1479/]
|
9 |
Tatton-Brown K, Rahman N. The NSD1 and EZH2 overgrowth genes, similarities and differences. Am J Med Genet C Semin Med Genet 2013;163C:86-91.
|
10 |
Nicita F, Ruggieri M, Polizzi A, Mauceri L, Salpietro V, Briuglia S, et al. Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up. Epilepsia 2012;53:e102-5.
DOI
|
11 |
Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002;30:365-6.
DOI
|
12 |
Sohn YB, Lee CG, Ko JM, Yang JA, Yun JN, Jung EJ, et al. Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. J Hum Genet 2013;58:73-7.
DOI
|
13 |
Tatton-Brown K, Rahman N. Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol 2004;13:199-204.
DOI
|
14 |
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, et al. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 2007;28:1098-107.
DOI
|
15 |
Taylor JG 6th, Cheuk AT, Tsang PS, Chung JY, Song YK, Desai K, et al. Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models. J Clin Invest 2009;119:3395-407.
|
16 |
Choufani S, Shuman C, Weksberg R. Molecular findings in Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2013; 163C:131-40.
|
17 |
Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010;18:8-14.
DOI
|
18 |
Tan TY, Amor DJ. Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. J Paediatr Child Health 2006; 42:486-90.
DOI
|
19 |
Brioude F, Lacoste A, Netchine I, Vazquez MP, Auber F, Audry G, et al. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Horm Res Paediatr 2013;80:457-65.
DOI
|
20 |
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, et al. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. Eur J Hum Genet 2016;24:183-90.
DOI
|
21 |
Ibrahim A, Kirby G, Hardy C, Dias RP, Tee L, Lim D, et al. Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics 2014;6:11.
DOI
|
22 |
Ptacek T, Song C, Walker CL, Sell SM. Physical mapping of distinct 7q22 deletions in uterine leiomyoma and analysis of a recently annotated 7q22 candidate gene. Cancer Genet Cytogenet 2007;174:116-20.
DOI
|
23 |
Jang SW, Yang SJ, Ehlen A, Dong S, Khoury H, Chen J, et al. Serine/arginine protein-specific kinase 2 promotes leukemia cell proliferation by phosphorylating acinus and regulating cyclin A1. Cancer Res 2008;68:4559-70.
DOI
|
24 |
Hiesberger T, Trommsdorff M, Howell BW, Goffinet A, Mumby MC, Cooper JA, et al. Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron 1999;24:481-9.
DOI
|
25 |
Dulabon L, Olson EC, Taglienti MG, Eisenhuth S, McGrath B, Walsh CA, et al. Reelin binds alpha3beta1 integrin and inhibits neuronal migration. Neuron 2000;27:33-44.
DOI
|