162 related articles for article (PubMed ID: 19914434)
1. Hepatoblastoma in a patient with sotos syndrome.
Kato M; Takita J; Takahashi K; Mimaki M; Chen Y; Koh K; Ida K; Oka A; Mizuguchi M; Ogawa S; Igarashi T
J Pediatr; 2009 Dec; 155(6):937-9. PubMed ID: 19914434
[TBL] [Abstract][Full Text] [Related]
2. 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; 118(18):1499-506. PubMed ID: 16232326
[TBL] [Abstract][Full Text] [Related]
3. NSD1 mutations in Sotos syndrome.
Faravelli F
Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):24-31. PubMed ID: 16010675
[TBL] [Abstract][Full Text] [Related]
4. 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; 52(5):333-6. PubMed ID: 19596467
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 14571271
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 20420030
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 17565729
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 19039236
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 23190751
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 17561922
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 18042263
[No Abstract] [Full Text] [Related]
12. Low factor XII level in an individual with Sotos syndrome.
Shen JJ; Kurotaki N; Patel A; Lupski JR; Brown CW
Pediatr Blood Cancer; 2005 Feb; 44(2):187-9. PubMed ID: 15390361
[TBL] [Abstract][Full Text] [Related]
13. Lymphoproliferative disorders in Sotos syndrome: observation of two cases.
Corsello G; Giuffrè M; Carcione A; Cuzto ML; Piccione M; Ziino O
Am J Med Genet; 1996 Sep; 64(4):588-93. PubMed ID: 8870927
[TBL] [Abstract][Full Text] [Related]
14. Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays.
Wang L; Fidler C; Nadig N; Giagounidis A; Della Porta MG; Malcovati L; Killick S; Gattermann N; Aul C; Boultwood J; Wainscoat JS
Haematologica; 2008 Jul; 93(7):994-1000. PubMed ID: 18508791
[TBL] [Abstract][Full Text] [Related]
15. Whole-genome profiling of chromosomal aberrations in hepatoblastoma using high-density single-nucleotide polymorphism genotyping microarrays.
Suzuki M; Kato M; Yuyan C; Takita J; Sanada M; Nannya Y; Yamamoto G; Takahashi A; Ikeda H; Kuwano H; Ogawa S; Hayashi Y
Cancer Sci; 2008 Mar; 99(3):564-70. PubMed ID: 18271875
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of Sotos syndrome.
Niikawa N
Horm Res; 2004; 62 Suppl 3():60-5. PubMed ID: 15539801
[TBL] [Abstract][Full Text] [Related]
17. 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; 140(1):70-3. PubMed ID: 16329110
[TBL] [Abstract][Full Text] [Related]
18. Other tumors in Sotos syndrome.
Lapunzina P
Am J Med Genet A; 2005 Jun; 135(2):228. PubMed ID: 15852475
[No Abstract] [Full Text] [Related]
19. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
Quélin C; Bendavid C; Dubourg C; de la Rochebrochard C; Lucas J; Henry C; Jaillard S; Loget P; Loeuillet L; Lacombe D; Rival JM; David V; Odent S; Pasquier L
Eur J Med Genet; 2009; 52(1):41-6. PubMed ID: 19022413
[TBL] [Abstract][Full Text] [Related]
20. Haploinsufficiency of NSD1 causes Sotos syndrome.
Kurotaki N; Imaizumi K; Harada N; Masuno M; Kondoh T; Nagai T; Ohashi H; Naritomi K; Tsukahara M; Makita Y; Sugimoto T; Sonoda T; Hasegawa T; Chinen Y; Tomita Ha HA; Kinoshita A; Mizuguchi T; Yoshiura Ki K; Ohta T; Kishino T; Fukushima Y; Niikawa N; Matsumoto N
Nat Genet; 2002 Apr; 30(4):365-6. PubMed ID: 11896389
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
