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Journal Abstract Search

184 related items for PubMed ID: 10854107

  • 1. Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.
    Raynaud M, Moizard MP, Dessay B, Briault S, Toutain A, Gendrot C, Ronce N, Moraine C.
    Eur J Hum Genet; 2000 Apr; 8(4):253-8. PubMed ID: 10854107
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  • 2. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.
    Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L.
    Am J Med Genet; 1996 Jul 12; 64(1):31-4. PubMed ID: 8826445
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  • 4. X chromosome inactivation and X-linked mental retardation.
    Willard HF.
    Am J Med Genet; 1996 Jul 12; 64(1):21-6. PubMed ID: 8826443
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  • 9. Linkage analysis in three families with nonspecific X-linked mental retardation.
    Claes S, Gu XX, Legius E, Lorenzetti E, Marynen P, Fryns JP, Cassiman JJ, Raeymaekers P.
    Am J Med Genet; 1996 Jul 12; 64(1):137-46. PubMed ID: 8826464
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  • 10. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
    McPherson EW, Clemens MM, Gibbons RJ, Higgs DR.
    Am J Med Genet; 1995 Jan 30; 55(3):302-6. PubMed ID: 7726227
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  • 11. X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.
    Woodward K, Kirtland K, Dlouhy S, Raskind W, Bird T, Malcolm S, Abeliovich D.
    Eur J Hum Genet; 2000 Jun 30; 8(6):449-54. PubMed ID: 10878666
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  • 13. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
    Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, Ikegawa S.
    Hum Genet; 2003 Jan 30; 112(1):78-83. PubMed ID: 12483303
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  • 14. Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
    Hamel BC, Smits AP, van den Helm B, Smeets DF, Knoers NV, van Roosmalen T, Thoonen GH, Assman-Hulsmans CF, Ropers HH, Mariman EC, Kremer H.
    Am J Med Genet; 1999 Jul 30; 85(3):290-304. PubMed ID: 10398246
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  • 15. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers.
    Sumita DR, Vainzof M, Campiotto S, Cerqueira AM, Cánovas M, Otto PA, Passos-Bueno MR, Zatz M.
    Am J Med Genet; 1998 Dec 04; 80(4):356-61. PubMed ID: 9856563
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  • 17. X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization.
    Turner G, Gedeon A, Mulley J.
    Am J Med Genet; 1994 Jul 15; 51(4):575-80. PubMed ID: 7943042
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  • 18. [X chromosome inactivation--a biological phenomenon of clinical significance for women].
    Orstavik KH.
    Tidsskr Nor Laegeforen; 1999 Mar 10; 119(7):972-5. PubMed ID: 10210959
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  • 20. X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.
    Siderius LE, Hamel BC, van Bokhoven H, de Jager F, van den Helm B, Kremer H, Heineman-de Boer JA, Ropers HH, Mariman EC.
    Am J Med Genet; 1999 Jul 30; 85(3):216-20. PubMed ID: 10398231
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