X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization

Author:

Beck James,Enders Herbert,Schliephacke Martin,Buchwald-Saal Monika,Tümer Zeynep

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. Menkes' kinky-hair syndrome: report of a case in a female infant;Barton;Neurology,1983

3. Prenatal identification of a girl with a t(X;4) (p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy;Bodrug;J Med Genet,1990

4. Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy;Bodrug;EMBO J,1991

5. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein;Chelly;Nature Genet,1993

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1. Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant;Scientific Reports;2024-01-03

2. Disorders of metal metabolism;Translational Science of Rare Diseases;2017-12-18

3. Menkes Disease;Atlas of Genetic Diagnosis and Counseling;2017

4. Menkes Disease;Atlas of Genetic Diagnosis and Counseling;2016

5. Genetics of Metal Disorders (Excluding NBIA);Movement Disorder Genetics;2015

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