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Items: 1 to 20 of 32

1.

Pelizaeus-Merzbacher-Like Disease 1.

Nahhas N, Conant A, Orthmann-Murphy J, Vanderver A, Hobson G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2017 Dec 21 [updated 2019 Jan 17].

2.

Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus-Merzbacher-Like Disease.

Chen N, Wang J, Jiang Y, Wu Y, Hao H, Ji T.

Neuropediatrics. 2017 Dec;48(6):426-431. doi: 10.1055/s-0037-1603978. Epub 2017 Jul 16. No abstract available.

PMID:
28712094
3.

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A.

Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16. Erratum in: Mol Genet Metab. 2016 Nov;119(3):293.

4.

A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.

Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T.

J Neurol Sci. 2013 Jul 15;330(1-2):123-6. doi: 10.1016/j.jns.2013.04.017. Epub 2013 May 16.

PMID:
23684670
5.

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.

Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S.

Clin Genet. 2013 Oct;84(4):378-81. doi: 10.1111/cge.12158. Epub 2013 Apr 26.

PMID:
23550541
6.

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation Study.

Gene. 2013 Jan 25;513(2):233-8. doi: 10.1016/j.gene.2012.10.070. Epub 2012 Nov 7.

PMID:
23142375
7.

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M.

Eur J Hum Genet. 2013 Jan;21(1):34-9. doi: 10.1038/ejhg.2012.93. Epub 2012 Jun 6.

8.

Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.

Finegold DN, Baty CJ, Knickelbein KZ, Perschke S, Noon SE, Campbell D, Karlsson JM, Huang D, Kimak MA, Lawrence EC, Feingold E, Meriney SD, Brufsky AM, Ferrell RE.

Clin Cancer Res. 2012 Apr 15;18(8):2382-90. doi: 10.1158/1078-0432.CCR-11-2303. Epub 2012 Feb 20.

9.

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.

Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.

Clin Genet. 2013 Jan;83(1):66-72. doi: 10.1111/j.1399-0004.2012.01846.x. Epub 2012 Feb 20.

10.

[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype].

Ishikawa T, Sato K, Shimazaki R, Goto K, Matsuda T, Ishiura H.

Rinsho Shinkeigaku. 2010 Jan;50(1):7-11. Japanese.

PMID:
20120347
11.

Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.

Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y.

Brain Dev. 2010 Mar;32(3):236-43. doi: 10.1016/j.braindev.2009.03.013. Epub 2009 May 6.

PMID:
19423250
12.

Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.

Ruf N, Uhlenberg B.

Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):226-32. doi: 10.1002/ajmg.b.30792.

PMID:
18521858
13.

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Salviati L, Trevisson E, Baldoin MC, Toldo I, Sartori S, Calderone M, Tenconi R, Laverda A.

Neurogenetics. 2007 Jan;8(1):57-60. Epub 2006 Oct 10.

PMID:
17031678
14.

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Wolf NI, Cundall M, Rutland P, Rosser E, Surtees R, Benton S, Chong WK, Malcolm S, Ebinger F, Bitner-Glindzicz M, Woodward KJ.

Neurogenetics. 2007 Jan;8(1):39-44. Epub 2006 Sep 13.

PMID:
16969684
15.
16.
17.

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER.

Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.

PMID:
21959080
18.

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S.

J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25.

PMID:
21266381
19.

GJC2 missense mutations cause human lymphedema.

Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, Meriney SD, Feingold E, Finegold DN.

Am J Hum Genet. 2010 Jun 11;86(6):943-8. doi: 10.1016/j.ajhg.2010.04.010. Epub 2010 May 27.

20.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D.

Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4.

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