PubMed for id: 110011216

Year	Number of Results
1998	1
2003	2
2004	1
2005	5
2006	3
2007	3
2008	1
2009	3
2010	2
2011	3
2012	6
2013	3
2014	3
2015	2
2016	2
2024	0

1

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.

Klaskova E, Drabek J, Hobzova M, Smolka V, Seda M, Hyjanek J, Slavkovsky R, Stranska J, Prochazka M. Klaskova E, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Dec;160(4):495-498. doi: 10.5507/bp.2016.038. Epub 2016 Aug 2. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 27485184 Free article.

2

Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.

Armstrong AE, Weese-Mayer DE, Mian A, Maris JM, Batra V, Gosiengfiao Y, Reichek J, Madonna MB, Bush JW, Shore RM, Walterhouse DO. Armstrong AE, et al. Pediatr Blood Cancer. 2015 Nov;62(11):2007-10. doi: 10.1002/pbc.25572. Epub 2015 May 22. Pediatr Blood Cancer. 2015. PMID: 26011159

3

Key Role of Amino Acid Repeat Expansions in the Functional Diversification of Duplicated Transcription Factors.

Radó-Trilla N, Arató K, Pegueroles C, Raya A, de la Luna S, Albà MM. Radó-Trilla N, et al. Mol Biol Evol. 2015 Sep;32(9):2263-72. doi: 10.1093/molbev/msv103. Epub 2015 Apr 29. Mol Biol Evol. 2015. PMID: 25931513 Free PMC article.

4

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.

Bachetti T, Di Duca M, Della Monica M, Grappone L, Scarano G, Ceccherini I. Bachetti T, et al. Pediatr Pulmonol. 2014 Mar;49(3):E45-7. doi: 10.1002/ppul.22790. Epub 2013 Mar 4. Pediatr Pulmonol. 2014. PMID: 23460545

5

Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene.

Al Rashdi I, Al Ghafri M, Al Hanshi S, Al Macki N. Al Rashdi I, et al. Oman Med J. 2011 Sep;26(5):356-8. doi: 10.5001/omj.2011.87. Oman Med J. 2011. PMID: 22125732 Free PMC article.

6

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.

Di Zanni E, Bachetti T, Parodi S, Bocca P, Prigione I, Di Lascio S, Fornasari D, Ravazzolo R, Ceccherini I. Di Zanni E, et al. Neurobiol Dis. 2012 Jan;45(1):508-18. doi: 10.1016/j.nbd.2011.09.007. Epub 2011 Sep 21. Neurobiol Dis. 2012. PMID: 21964250

7

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

Bachetti T, Parodi S, Di Duca M, Santamaria G, Ravazzolo R, Ceccherini I. Bachetti T, et al. J Mol Med (Berl). 2011 May;89(5):505-13. doi: 10.1007/s00109-010-0718-y. Epub 2011 Feb 19. J Mol Med (Berl). 2011. PMID: 21336852

8

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.

Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR. Parodi S, et al. Clin Genet. 2010 Sep;78(3):289-93. doi: 10.1111/j.1399-0004.2010.01383.x. Epub 2010 Feb 11. Clin Genet. 2010. PMID: 20236122

9

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

Arai H, Otagiri T, Sasaki A, Hashimoto T, Umetsu K, Tokunaga K, Hayasaka K. Arai H, et al. J Hum Genet. 2007;52(11):921-925. doi: 10.1007/s10038-007-0197-3. Epub 2007 Oct 11. J Hum Genet. 2007. PMID: 17928950

10

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.

Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I. Bachetti T, et al. Int J Biochem Cell Biol. 2007;39(2):327-39. doi: 10.1016/j.biocel.2006.08.014. Epub 2006 Sep 14. Int J Biochem Cell Biol. 2007. PMID: 17045833

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