286 related articles for article (PubMed ID: 23190751)
21. 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; 45(2):215-8. PubMed ID: 25887879
[TBL] [Abstract][Full Text] [Related]
22. 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. PubMed ID: 12807965
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K; Gonzalez-Gandolfi C; Ackermann AM; Aljeaid D; Bedoukian E; Bird LM; De Leon DD; Diaz J; Hopkin RJ; Kadakia SP; Keena B; Klein KO; Krantz I; Leon E; Lord K; McDougall C; Medne L; Skraban CM; Stanley CA; Tarpinian J; Zackai E; Deardorff MA; Kalish JM
Am J Med Genet A; 2019 Apr; 179(4):542-551. PubMed ID: 30719864
[TBL] [Abstract][Full Text] [Related]
25. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Novara F; Stanzial F; Rossi E; Benedicenti F; Inzana F; Di Gregorio E; Brusco A; Graakjaer J; Fagerberg C; Belligni E; Silengo M; Zuffardi O; Ciccone R
Am J Med Genet A; 2014 Aug; 164A(8):2084-90. PubMed ID: 24819041
[TBL] [Abstract][Full Text] [Related]
26. Neuroimaging and clinical characterization of Sotos syndrome.
Türkmen S; Şahin S; Koçer N; Peters H; Mundlos S; Tüysüz B
Genet Couns; 2015; 26(1):1-12. PubMed ID: 26043501
[TBL] [Abstract][Full Text] [Related]
27. [Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa].
Cortès-Saladelafont E; Arias-Sáez K; Esteban-Oliva D; Coroleu-Lletget W; Martín-Jiménez P; Pintos-Morell G
An Pediatr (Barc); 2011 Aug; 75(2):129-33. PubMed ID: 21482210
[TBL] [Abstract][Full Text] [Related]
28. NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.
Pasillas MP; Shah M; Kamps MP
Hum Mutat; 2011 Mar; 32(3):292-8. PubMed ID: 21972110
[TBL] [Abstract][Full Text] [Related]
29. 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;
J Med Genet; 2005 Apr; 42(4):307-13. PubMed ID: 15805156
[TBL] [Abstract][Full Text] [Related]
30. Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene.
Hirai N; Matsune K; Ohashi H
Am J Med Genet A; 2011 Dec; 155A(12):2933-9. PubMed ID: 22012791
[TBL] [Abstract][Full Text] [Related]
31. A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.
Nakamura Y; Takagi M; Yoshihashi H; Miura M; Narumi S; Hasegawa T; Miyake Y; Hasegawa Y
Am J Med Genet A; 2015 May; 167A(5):1171-4. PubMed ID: 25712828
[TBL] [Abstract][Full Text] [Related]
32. Sotos syndrome 1 and 2.
Sotos JF
Pediatr Endocrinol Rev; 2014 Sep; 12(1):2-16. PubMed ID: 25345081
[TBL] [Abstract][Full Text] [Related]
33. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
Kurotaki N; Stankiewicz P; Wakui K; Niikawa N; Lupski JR
Hum Mol Genet; 2005 Feb; 14(4):535-42. PubMed ID: 15640245
[TBL] [Abstract][Full Text] [Related]
34. [Sotos syndrome diagnosed by comparative genomic hybridisation].
Saldarriaga W; Molina-Barrera LC; Ramírez-Cheyne J
Rev Chil Pediatr; 2016; 87(4):288-92. PubMed ID: 26692474
[TBL] [Abstract][Full Text] [Related]
35. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
Yoneda Y; Saitsu H; Touyama M; Makita Y; Miyamoto A; Hamada K; Kurotaki N; Tomita H; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Ogata K; Naritomi K; Matsumoto N
J Hum Genet; 2012 Mar; 57(3):207-11. PubMed ID: 22301465
[TBL] [Abstract][Full Text] [Related]
36. Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.
Ren Z; Yue L; Hu HY; Hou XL; Chen WQ; Tan Y; Dong Z; Zhang J
BMC Med Genomics; 2024 Apr; 17(1):116. PubMed ID: 38684994
[TBL] [Abstract][Full Text] [Related]
37. Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations.
de Boer L; Röder I; Wit JM
Dev Med Child Neurol; 2006 Jul; 48(7):582-8. PubMed ID: 16780628
[TBL] [Abstract][Full Text] [Related]
38. De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J; Cimbalistiene L; Ciuladaite Z; Preiksaitiene E; Kučinskienė ZA; Hettinger JA; Sismani C; Patsalis PC; Kučinskas V
Am J Med Genet A; 2011 Oct; 155A(10):2501-7. PubMed ID: 21998857
[TBL] [Abstract][Full Text] [Related]
39. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N; Harada N; Shimokawa O; Miyake N; Kawame H; Uetake K; Makita Y; Kondoh T; Ogata T; Hasegawa T; Nagai T; Ozaki T; Touyama M; Shenhav R; Ohashi H; Medne L; Shiihara T; Ohtsu S; Kato Z; Okamoto N; Nishimoto J; Lev D; Miyoshi Y; Ishikiriyama S; Sonoda T; Sakazume S; Fukushima Y; Kurosawa K; Cheng JF; Yoshiura K; Ohta T; Kishino T; Niikawa N; Matsumoto N
Hum Mutat; 2003 Nov; 22(5):378-87. PubMed ID: 14517949
[TBL] [Abstract][Full Text] [Related]
40. Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Kenny J; Lees MM; Drury S; Barnicoat A; Van't Hoff W; Palmer R; Morrogh D; Waters JJ; Lench NJ; Bockenhauer D
Pediatr Nephrol; 2011 Aug; 26(8):1331-4. PubMed ID: 21597970
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
