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Items: 1 to 20 of 144

1.

Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

Bennett CM, Boye E, Neufeld EJ.

Am J Hematol. 2008 Oct;83(10):778-80. doi: 10.1002/ajh.21219.

2.

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome.

Orstavik RE, Tommerup N, Eiklid K, Orstavik KH.

Am J Med Genet. 1995 Mar 27;56(2):210-4.

PMID:
7625447
3.

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T.

J Med Genet. 1996 Aug;33(8):682-8.

4.

X-chromosome inactivation in monozygotic twins with systemic lupus erythematosus.

Huang Q, Parfitt A, Grennan DM, Manolios N.

Autoimmunity. 1997;26(2):85-93.

PMID:
9546817
5.

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

Valleix S, Vinciguerra C, Lavergne JM, Leuer M, Delpech M, Negrier C.

Blood. 2002 Oct 15;100(8):3034-6.

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Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

Jørgensen AL, Philip J, Raskind WH, Matsushita M, Christensen B, Dreyer V, Motulsky AG.

Am J Hum Genet. 1992 Aug;51(2):291-8.

9.

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

Abbadi N, Philippe C, Chery M, Gilgenkrantz H, Tome F, Collin H, Theau D, Recan D, Broux O, Fardeau M, et al.

Am J Med Genet. 1994 Aug 15;52(2):198-206.

PMID:
7802009
10.

Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.

Richards CS, Watkins SC, Hoffman EP, Schneider NR, Milsark IW, Katz KS, Cook JD, Kunkel LM, Cortada JM.

Am J Hum Genet. 1990 Apr;46(4):672-81.

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Height discordance in monozygotic females is not attributable to discordant inactivation of X-linked stature determining genes.

Healey SC, Kirk KM, Hyland VJ, Munns CF, Henders AK, Batch JA, Heath AC, Martin NG, Glass IA.

Twin Res. 2001 Feb;4(1):19-24.

PMID:
11665320
13.

A monozygotic twin pregnancy discordant for acardia and X-inactivation pattern.

Masuzaki H, Miura K, Yoshimura S, Yoshiura K, Ishimaru T.

Eur J Obstet Gynecol Reprod Biol. 2004 Nov 10;117(1):102-4.

PMID:
15474253
14.

Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A.

Bicocchi MP, Migeon BR, Pasino M, Lanza T, Bottini F, Boeri E, Molinari AC, Corsolini F, Morerio C, Acquila M.

Eur J Hum Genet. 2005 May;13(5):635-40.

15.

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.

Favier R, Lavergne JM, Costa JM, Caron C, Mazurier C, Viémont M, Delpech M, Valleix S.

Blood. 2000 Dec 15;96(13):4373-5.

16.

Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.

Migeon BR, Dunn MA, Thomas G, Schmeckpeper BJ, Naidu S.

Am J Hum Genet. 1995 Mar;56(3):647-53.

17.

Monozygotic twins discordant for Aicardi syndrome.

Costa T, Greer W, Rysiecki G, Buncic JR, Ray PN.

J Med Genet. 1997 Aug;34(8):688-91.

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Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B.

Okumura K, Fujimori Y, Takagi A, Murate T, Ozeki M, Yamamoto K, Katsumi A, Matsushita T, Naoe T, Kojima T.

Haemophilia. 2008 Sep;14(5):1088-93. doi: 10.1111/j.1365-2516.2008.01786.x. Epub 2008 Jun 5.

PMID:
18540891
20.
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