Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies
- 1 June 2008
- journal article
- Published by Elsevier in Fertility and Sterility
- Vol. 89 (6) , 1651-1656
- https://doi.org/10.1016/j.fertnstert.2007.04.037
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in spermProceedings of the National Academy of Sciences, 2006
- K644E/M FGFR3 Mutants Activate Erk1/2 from the Endoplasmic Reticulum through FRS2α and PLCγ-independent PathwaysJournal of Molecular Biology, 2006
- Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cellsHuman Molecular Genetics, 2005
- A histomorphometric and cytogenetic study of testis from men 29–102 years oldFertility and Sterility, 2005
- A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasiaNature Genetics, 1995
- Finding genes involved in human developmental disordersCurrent Opinion in Genetics & Development, 1995
- A gene for achondroplasia–hypochondroplasia maps to chromosome 4pNature Genetics, 1994
- Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.Journal of Medical Genetics, 1979
- Older paternal age and fresh gene mutation: Data on additional disordersThe Journal of Pediatrics, 1975
- Achondroplasia—a genetic and statistical surveyAnnals of Human Genetics, 1970