Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.
暂无分享,去创建一个
P. Simi | M. Bicocchi | P. Ghirri | V. Bertini | A. Valetto
[1] S. Bione,et al. Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis , 2007, Human Genetics.
[2] D. Toniolo. X-linked premature ovarian failure: a complex disease. , 2006, Current opinion in genetics & development.
[3] S. Bione,et al. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. , 2006, Human reproduction.
[4] S. Bione,et al. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. , 2004, Human reproduction.
[5] R. Laxová,et al. The critical region on the human Xq , 1990, Human Genetics.
[6] R. Speed. The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes , 1988, Human Genetics.
[7] P. Marynen,et al. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene , 2003, American journal of medical genetics. Part A.
[8] A. Zinn,et al. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes , 2002, Cytogenetic and Genome Research.
[9] P. Marynen,et al. NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation , 2001, Current Biology.
[10] C. Ayuso,et al. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation , 2000, Ophthalmic genetics.
[11] S. Bione,et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. , 1998, American journal of human genetics.
[12] T. Rosenberg,et al. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. , 1994, Human molecular genetics.
[13] H. Zoghbi,et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. , 1992, American journal of human genetics.