120 related articles for article (PubMed ID: 29570484)
1. A Forensic Approach to Sotos Syndrome.
Byard RW
Am J Forensic Med Pathol; 2018 Sep; 39(3):273-275. PubMed ID: 29570484
[TBL] [Abstract][Full Text] [Related]
2. Lethal fat embolism complicating Sotos syndrome.
Gilbert JD; Byard RW
Med Sci Law; 2018 Apr; 58(2):119-121. PubMed ID: 29528771
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Hyperinsulinemia in Sotos Syndrome with a
Lundberg E; Burstedt M; Golovleva I
J Clin Res Pediatr Endocrinol; 2024 Feb; ():. PubMed ID: 38344969
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.
Yue X; Liu B; Han T; Guo D; Ding R; Wang G
BMC Pediatr; 2024 Mar; 24(1):166. PubMed ID: 38459438
[TBL] [Abstract][Full Text] [Related]
8. The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients.
Machida M; Katoh H; Machida M; Miyake A; Taira K; Ohashi H
Spine (Phila Pa 1976); 2021 Jul; 46(13):E726-E733. PubMed ID: 33332788
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.
Kılıç E; Utine GE; Boduroğlu K
Turk J Pediatr; 2013; 55(2):207-9. PubMed ID: 24192683
[TBL] [Abstract][Full Text] [Related]
11. Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G; Ferrigno F; Franceschini A; Dentici ML; Capolino R; Sinibaldi L; Minotti C; Micalizzi A; Alesi V; Novelli A; Baban A; Parlapiano G; Coviello D; Versacci P; Putotto C; Chinali M; Drago F; Bartuli A; Marino B; Digilio MC
Diagnostics (Basel); 2024 Mar; 14(6):. PubMed ID: 38535015
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
Chen CP; Lin CJ; Chern SR; Liu YP; Kuo YL; Chen YN; Wu PS; Town DD; Chen LF; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2014 Dec; 53(4):583-7. PubMed ID: 25510705
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. First report of tethered cord syndrome in a patient with Sotos syndrome.
Kuzucu P; Türkmen T; Börcek AÖ
BMC Pediatr; 2020 Apr; 20(1):183. PubMed ID: 32331522
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.
Han JY; Lee IG; Jang W; Shin S; Park J; Kim M
Clin Chim Acta; 2017 Jul; 470():31-35. PubMed ID: 28457852
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20420030
[TBL] [Abstract][Full Text] [Related]
19. Sotos syndrome 1 and 2.
Sotos JF
Pediatr Endocrinol Rev; 2014 Sep; 12(1):2-16. PubMed ID: 25345081
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
