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1
Evidence for preferential X-chromosome inactivation in a family with Fabry disease.
Am J Hum Genet. 1977 Jul;29(4):361-70.
2
Detection of Fabry's disease carriers by enzyme assay of hair roots.
J Inherit Metab Dis. 1989;12 Suppl 2:369-71. doi: 10.1007/BF03335425.
3
Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
J Med Genet. 1977 Apr;14(2):91-9. doi: 10.1136/jmg.14.2.91.
4
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.
J Med Genet. 1996 Aug;33(8):682-8. doi: 10.1136/jmg.33.8.682.
5
Anderson-Fabry disease: rapid detection of carriers by hair bulb analysis.
J Inherit Metab Dis. 1978;1(2):71-4. doi: 10.1007/BF01801848.
6
Fabry's disease: heterozygote detection by hair root analysis.
Hum Genet. 1976 Jun 29;32(3):329-34. doi: 10.1007/BF00295824.
7
Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting.
Clin Genet. 1983 Apr;23(4):261-6. doi: 10.1111/j.1399-0004.1983.tb01874.x.
8
Detection of Fabry's disease heterozygotes by hair root analysis.
Clin Genet. 1978 Mar;13(3):251-8. doi: 10.1111/j.1399-0004.1978.tb01178.x.
9
Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.
Biomedicine. 1977 May;26(3):194-201.
10
Hair root analysis in heterozygotes for Fabry's disease.
Adv Exp Med Biol. 1978;101:719-25. doi: 10.1007/978-1-4615-9071-2_66.
引用本文的文献
1
[Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge].
Med Klin (Munich). 2010 Sep;105(9):627-34. doi: 10.1007/s00063-010-1102-y. Epub 2010 Sep 28.
2
A skewed view of X chromosome inactivation.
J Clin Invest. 2008 Jan;118(1):20-3. doi: 10.1172/JCI34470.
3
Anderson-Fabry disease in Austria.
Wien Klin Wochenschr. 2003 Apr 30;115(7-8):235-40. doi: 10.1007/BF03040321.
4
Genetic control of X inactivation and processes leading to X-inactivation skewing.
Am J Hum Genet. 1996 Jun;58(6):1101-8.
5
X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes.
Hum Genet. 1995 Aug;96(2):167-76. doi: 10.1007/BF00207374.
6
A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.
J Med Genet. 1990 May;27(5):303-6. doi: 10.1136/jmg.27.5.303.
7
Different phenotypic expression of Fabry disease in female monozygotic twins.
J Inherit Metab Dis. 1991;14(1):105-6. doi: 10.1007/BF01804397.
8
X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.
Proc Natl Acad Sci U S A. 1991 Sep 15;88(18):8198-202. doi: 10.1073/pnas.88.18.8198.
9
Progressive myoclonus epilepsy. A variant with probable X-linked inheritance.
Hum Genet. 1979 May 23;49(1):83-9.
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The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.
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The applications of genetic mosaicism to developmental problems.
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Linkage relationships of the angiokeratoma (Fabry) locus.
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X chromosome inactivation mosaicism in the mouse.
Dev Biol. 1971 Oct;26(2):252-63. doi: 10.1016/0012-1606(71)90125-4.
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The manifesting carrier in Duchenne muscular dystrophy.
Clin Genet. 1974;5(4):271-84. doi: 10.1111/j.1399-0004.1974.tb01694.x.
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Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.
Biochem Genet. 1974 May;11(5):397-411. doi: 10.1007/BF00486413.
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Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.
Biochem Genet. 1972 Feb;6(1):21-6. doi: 10.1007/BF00485961.
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Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem.
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Fabry's disease: heterozygote detection by hair root analysis.
Hum Genet. 1976 Jun 29;32(3):329-34. doi: 10.1007/BF00295824.
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Residual activity of alpha-galactosidase A in Fabry's disease.
Biochem Genet. 1975 Oct;13(9-10):615-28. doi: 10.1007/BF00484919.
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