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Items: 1 to 20 of 112

1.

Non-random X chromosome inactivation in Aicardi syndrome.

Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB.

Hum Genet. 2009 Mar;125(2):211-6. doi: 10.1007/s00439-008-0615-4. Epub 2009 Jan 1.

2.

[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].

Jiang SL, Bao XH, Song FY, Pan H, Li MR, Wu XR.

Zhonghua Er Ke Za Zhi. 2006 Sep;44(9):648-52. Chinese.

PMID:
17217653
3.

Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.

Radic CP, Rossetti LC, Abelleyro MM, Tetzlaff T, Candela M, Neme D, Sciuccati G, Bonduel M, Medina-Acosta E, Larripa IB, de Tezanos Pinto M, De Brasi CD.

J Thromb Haemost. 2015 Apr;13(4):530-9. doi: 10.1111/jth.12854. Epub 2015 Mar 14.

4.

X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs.

Bell RJ, Lees GE, Murphy KE.

Cytogenet Genome Res. 2008;122(1):37-40. doi: 10.1159/000151314. Epub 2008 Oct 14.

PMID:
18931484
5.

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR.

J Child Neurol. 2008 Jan;23(1):22-5. doi: 10.1177/0883073807307077.

PMID:
18184939
6.

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing.

Szelinger S, Malenica I, Corneveaux JJ, Siniard AL, Kurdoglu AA, Ramsey KM, Schrauwen I, Trent JM, Narayanan V, Huentelman MJ, Craig DW.

PLoS One. 2014 Dec 12;9(12):e113036. doi: 10.1371/journal.pone.0113036. eCollection 2014.

7.

Comparison of X-chromosome inactivation patterns in multiple tissues from human females.

Bittel DC, Theodoro MF, Kibiryeva N, Fischer W, Talebizadeh Z, Butler MG.

J Med Genet. 2008 May;45(5):309-13. Epub 2007 Dec 21.

PMID:
18156436
8.

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.

Kloska A, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Czartoryska B, Węgrzyn G.

Clin Genet. 2011 Nov;80(5):459-65. doi: 10.1111/j.1399-0004.2010.01574.x. Epub 2010 Nov 10.

PMID:
21062272
9.

Skewed X-chromosome inactivation in scleroderma.

Uz E, Loubiere LS, Gadi VK, Ozbalkan Z, Stewart J, Nelson JL, Ozcelik T.

Clin Rev Allergy Immunol. 2008 Jun;34(3):352-5.

10.

X chromosome inactivation in women with alcoholism.

Manzardo AM, Henkhaus R, Hidaka B, Penick EC, Poje AB, Butler MG.

Alcohol Clin Exp Res. 2012 Aug;36(8):1325-9. doi: 10.1111/j.1530-0277.2012.01740.x. Epub 2012 Feb 29.

11.

The dynamics of X-inactivation skewing as women age.

Hatakeyama C, Anderson CL, Beever CL, Peñaherrera MS, Brown CJ, Robinson WP.

Clin Genet. 2004 Oct;66(4):327-32.

PMID:
15355435
12.

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

Villard L, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontès M.

J Med Genet. 2001 Jul;38(7):435-42.

13.

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.

Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL.

Eur J Hum Genet. 2007 Jun;15(6):628-37. Epub 2007 Mar 7.

14.

Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis.

Uz E, Mustafa C, Topaloglu R, Bilginer Y, Dursun A, Kasapcopur O, Ozen S, Bakkaloglu A, Ozcelik T.

Arthritis Rheum. 2009 Nov;60(11):3410-2. doi: 10.1002/art.24956.

15.

Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion.

Bagislar S, Ustuner I, Cengiz B, Soylemez F, Akyerli CB, Ceylaner S, Ceylaner G, Acar A, Ozcelik T.

Aust N Z J Obstet Gynaecol. 2006 Oct;46(5):384-7.

PMID:
16953851
16.

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.

Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K.

Clin Genet. 2008 Mar;73(3):257-61. doi: 10.1111/j.1399-0004.2007.00944.x. Epub 2007 Jan 8.

PMID:
18190595
17.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P.

Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82.

18.

X-chromosome genetic association test accounting for X-inactivation, skewed X-inactivation, and escape from X-inactivation.

Wang J, Yu R, Shete S.

Genet Epidemiol. 2014 Sep;38(6):483-93. doi: 10.1002/gepi.21814. Epub 2014 Jul 8.

19.

X chromosome inactivation patterns in patients with idiopathic premature ovarian failure.

Yoon SH, Choi YM, Hong MA, Kang BM, Kim JJ, Min EG, Kim JG, Moon SY.

Hum Reprod. 2008 Mar;23(3):688-92. doi: 10.1093/humrep/dem415. Epub 2008 Jan 8.

PMID:
18182395
20.

Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2.

Renault NK, Renault MP, Copeland E, Howell RE, Greer WL.

J Hum Genet. 2011 May;56(5):390-7. doi: 10.1038/jhg.2011.25. Epub 2011 Mar 17.

PMID:
21412246

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