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Items: 19

1.

Oxidative Stress in Cancer-Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial Dysfunction.

Perrone S, Lotti F, Geronzi U, Guidoni E, Longini M, Buonocore G.

Oxid Med Cell Longev. 2016;2016:4782426. doi: 10.1155/2016/4782426. Review.

2.

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Blachowska E, Petriczko E, Horodnicka-Józwa A, Skórka A, Pelc M, Krajewska-Walasek M, Walczak M.

Ital J Pediatr. 2016 Jan 26;42:10. doi: 10.1186/s13052-015-0209-4.

3.

Antioxidant strategies in genetic syndromes with high neoplastic risk in infant age.

Anichini C, Lotti F, Longini M, Felici C, Proietti F, Buonocore G.

Tumori. 2014 Nov-Dec;100(6):590-9. doi: 10.1700/1778.19256. Review.

PMID:
25688491
4.

Growth hormone replacement therapy in Costello syndrome.

Triantafyllou P, Christoforidis A, Vargiami E, Zafeiriou DI.

Growth Horm IGF Res. 2014 Dec;24(6):271-5. doi: 10.1016/j.ghir.2014.10.001.

PMID:
25459872
5.

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M.

Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793.

6.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B.

BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14.

7.

Cellular evidence for selfish spermatogonial selection in aged human testes.

Maher GJ, Goriely A, Wilkie AO.

Andrology. 2014 May;2(3):304-14. doi: 10.1111/j.2047-2927.2013.00175.x. Review.

8.

Antioxidant effects of potassium ascorbate with ribose in costello syndrome.

Anichini C, Lotti F, Pietrini A, Lo Rizzo C, Longini M, Proietti F, Felici C, Buonocore G.

Anticancer Res. 2013 Feb;33(2):691-5.

PMID:
23393369
9.

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.

Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):136-46. doi: 10.1002/ajmg.c.30294.

10.

Anesthesia considerations for patients with de Barsy syndrome.

Aponte EP, Smith HM, Wanek BJ, Rettke SR.

J Clin Anesth. 2010 Nov;22(7):499-504. doi: 10.1016/j.jclinane.2010.01.004.

PMID:
21056805
11.

Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy.

Kobayashi D, Cook AL, Williams DA.

Cardiol Young. 2010 Aug;20(4):459-61. doi: 10.1017/S1047951110000260.

PMID:
20307337
12.

Medical and surgical perspectives of cardiac hypertrophy in Costello syndrome.

Kalfa D, Fraisse A, Kreitmann B.

Cardiol Young. 2009 Dec;19(6):644-7. doi: 10.1017/S1047951109991181.

PMID:
19825250
13.

Olfactory stimulation using black pepper oil facilitates oral feeding in pediatric patients receiving long-term enteral nutrition.

Munakata M, Kobayashi K, Niisato-Nezu J, Tanaka S, Kakisaka Y, Ebihara T, Ebihara S, Haginoya K, Tsuchiya S, Onuma A.

Tohoku J Exp Med. 2008 Apr;214(4):327-32.

14.

Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.

Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L.

Am J Med Genet A. 2008 May 1;146A(9):1205-17. doi: 10.1002/ajmg.a.32276. No abstract available.

PMID:
18412122
15.

Enema-induced severe hyperphosphatemia in children.

Biebl A, Grillenberger A, Schmitt K.

Eur J Pediatr. 2009 Jan;168(1):111-2. doi: 10.1007/s00431-008-0705-2.

PMID:
18408952
16.

Costello syndrome and hyperinsulinemic hypoglycemia.

Alexander S, Ramadan D, Alkhayyat H, Al-Sharkawi I, Backer KC, El-Sabban F, Hussain K.

Am J Med Genet A. 2005 Dec 15;139(3):227-30.

PMID:
16278907
17.

Elevated urinary dopamine in adults and children.

Davidson DF.

Ann Clin Biochem. 2005 May;42(Pt 3):200-7.

PMID:
15949155
18.

Growth hormone deficiency in Costello syndrome.

Stein RI, Legault L, Daneman D, Weksberg R, Hamilton J.

Am J Med Genet A. 2004 Aug 30;129A(2):166-70.

PMID:
15316968
19.

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