Advanced paternal age has been associated with an increased risk for spontaneous
congenital disorders and common complex diseases (such as some cancers, schizophrenia …

All genetic variation arises via new mutations; therefore, determining the rate and biases for
different classes of mutation is essential for understanding the genetics of human disease …

Apert syndrome is a distinctive human malformation comprising craniosynostosis and
severe syndactyly of the hands and feet. We have identified specific missense substitutions …

Delayed childbearing is a common phenomenon in industrialized countries. This review
focuses on age-associated alterations of male fertility and genetic risks. Semen volume …

Observed mutation rates in humans appear higher in male than female gametes and often
increase with paternal age. This bias, usually attributed to the accumulation of replication …

Apert syndrome results from one or other of two specific nucleotide substitutions, both C→ G
transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. The frequency of new …

Apert syndrome is a distinctive human malformation characterized by craniosynostosis and
severe syndactyly of the hands and feet. It is caused by specific missense substitutions …

A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but
one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or …

Cohen Jr MM, Kreiborg S. Birth prevalence studies of the Crouzon syndrome: comparison of
direct and indirect methods. Clin Genet 1992: 41: 12–15. An indirect method for estimating …

The discovery in 1994 that highly specific mutations of fibroblast growth factor (FGF) receptor
3 caused the most common form of human short-limbed dwarfism, achondroplasia, heralded …