In the fragile X female carriers the degree of cognitive impairment appears to be correlated with activation status of the X chromosome bearing the expanded trinucleotide repeat in the promoter of the FMR1 gene. In this study we asked if the deviations from the primarily random pattern of X inactiva
β¦ LIBER β¦
Characterization of the full fragile X syndrome mutation in fetal gametes
β Scribed by Malter, Henry E.; Iber, Jane C.; Willemsen, R.; Graaff, Esther de; Tarleton, Jack C.; Leisti, J.; Warren, Stephen T.; Oostra, Ben A.
- Book ID
- 109915218
- Publisher
- Nature Publishing Group
- Year
- 1997
- Tongue
- English
- Weight
- 880 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1061-4036
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Nonrandom X inactivation and selection o
β
Sun, Y.J.; Baumer, A.
π
Article
π
1999
π
John Wiley and Sons
π
English
β 11 KB
π 2 views
Detection of full fragile X mutation
β
Pergolizzi, R.G.; Erster, S.H.; Goonewardena, P.; Brown, W.T.
π
Article
π
1992
π
The Lancet
π
English
β 298 KB
Reverse mutations in the fragile X syndr
β
Brown, W. Ted; Houck, George E.; Ding, Xiaohua; Zhong, Nan; Nolin, Sarah; Glicks
π
Article
π
1996
π
John Wiley and Sons
π
English
β 580 KB
Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers, they were found to have inherited a fragile X chromosome from their premutation carrier mothers, and yet had normal size FMRl repeat alleles. The changes in repeat sizes
TESTICULAR SIZE IN FETAL FRAGILE X SYNDR
β
Rudelli, RaulD; Jenkins, EdmundC; Wisniewski, Krystyna; Moretz, Roger; Byrne, Ju
π
Article
π
1983
π
The Lancet
π
English
β 333 KB
Triplet expansion: meiotic or postzygoti
β
Michele Ramsay
π
Article
π
1997
π
Elsevier Science
π
English
β 138 KB
Methylation and mutation patterns in the
β
Malmgren, Helena ;SteΓ©n-Bondeson, Marie-Louise ;Gustavson, Karl-Henrik ;SeΓ©manov
π
Article
π
1992
π
John Wiley and Sons
π
English
β 749 KB