𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Characterization of the full fragile X syndrome mutation in fetal gametes

✍ 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.


πŸ“œ SIMILAR VOLUMES


Nonrandom X inactivation and selection o
✍ Sun, Y.J.; Baumer, A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 11 KB πŸ‘ 2 views

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

Detection of full fragile X mutation
✍ Pergolizzi, R.G.; Erster, S.H.; Goonewardena, P.; Brown, W.T. πŸ“‚ Article πŸ“… 1992 πŸ› The Lancet 🌐 English βš– 298 KB
Reverse mutations in the fragile X syndr
✍ Brown, W. Ted; Houck, George E.; Ding, Xiaohua; Zhong, Nan; Nolin, Sarah; Glicks πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 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
✍ Rudelli, RaulD; Jenkins, EdmundC; Wisniewski, Krystyna; Moretz, Roger; Byrne, Ju πŸ“‚ Article πŸ“… 1983 πŸ› The Lancet 🌐 English βš– 333 KB