Similar articles for PMID: 21623770

Year	Number of Results
1998	1
1999	2
2000	3
2001	5
2002	4
2003	3
2004	4
2005	6
2006	6
2007	5
2008	5
2009	5
2010	4
2011	6
2012	10
2013	13
2014	7
2015	5
2016	3
2017	6
2018	3
2019	8
2020	8
2021	6
2022	2
2023	2
2024	0

1

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR. Carvalho CM, et al. Clin Genet. 2012 Jun;81(6):532-41. doi: 10.1111/j.1399-0004.2011.01716.x. Epub 2011 Jun 20. Clin Genet. 2012. PMID: 21623770 Free PMC article.

2

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O. Masliah-Planchon J, et al. BMC Med Genet. 2015 Sep 2;16:77. doi: 10.1186/s12881-015-0226-6. BMC Med Genet. 2015. PMID: 26329556 Free PMC article.

3

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.

Fonseca AC, Bonaldi A, Costa SS, Freitas MR, Kok F, Vianna-Morgante AM. Fonseca AC, et al. Clin Genet. 2013 Feb;83(2):169-74. doi: 10.1111/j.1399-0004.2012.01854.x. Epub 2012 Mar 16. Clin Genet. 2013. PMID: 22320281

4

Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.

Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M. Kitsiou-Tzeli S, et al. Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):494-8. doi: 10.1002/bdra.23015. Epub 2012 Apr 18. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22511562

5

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Lee JA, et al. Hum Mol Genet. 2006 Jul 15;15(14):2250-65. doi: 10.1093/hmg/ddl150. Epub 2006 Jun 14. Hum Mol Genet. 2006. PMID: 16774974

6

Pelizaeus-Merzbacher disease as a chromosomal disorder.

Yamamoto T, Shimojima K. Yamamoto T, et al. Congenit Anom (Kyoto). 2013 Mar;53(1):3-8. doi: 10.1111/cga.12005. Congenit Anom (Kyoto). 2013. PMID: 23480352 Review.

7

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T. Shimojima K, et al. Brain Dev. 2010 Mar;32(3):171-9. doi: 10.1016/j.braindev.2009.02.011. Epub 2009 Mar 27. Brain Dev. 2010. PMID: 19328639

8

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T. Shimojima K, et al. Eur J Med Genet. 2012 Jun;55(6-7):400-3. doi: 10.1016/j.ejmg.2012.02.013. Epub 2012 Mar 21. Eur J Med Genet. 2012. PMID: 22490426

9

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.

Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW. Wang JM, et al. Chin Med J (Engl). 2008 Sep 5;121(17):1638-42. Chin Med J (Engl). 2008. PMID: 19024090

10

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.

Woodward KJ. Woodward KJ. Expert Rev Mol Med. 2008 May 19;10:e14. doi: 10.1017/S1462399408000677. Expert Rev Mol Med. 2008. PMID: 18485258 Review.

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