During the last few years, it has been demonstrated that some syndromic craniosynostosis
and short‐limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical …

Craniosynostosis is a very heterogeneous group of disorders, in the etiology of which genetics
play an important role. Chromosomal alterations are important causative mechanisms of …

Current evidence indicates that certain immune molecules such as components of the
complement system are directly involved in neurobiological processes related to brain …

… Mutations were described according to the nomenclature of Antonarakis et al. (38). … Fetal
brain RNA was purchased from Research Genetics (Huntsville, AL), and adult liver total RNA …

Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations, including
vitreoretinal degeneration associated with retinal detachment and occipital scalp defect. …

… of these 26 families has demonstrated the existence of at least another locus, since 3
families still were unlinked win 1988; Sunohara et al. 1989; Yamanouchi et al. 1994). These …

… Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for
… Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, et al. Individual common variants …

… Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for
… Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, et al. Individual common variants …

Abstract Evaluation of expression profile in autism spectrum disorder (ASD) patients is an
important approach to understand possible similar functional consequences that may underlie …

Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal
detachment, macular abnormalities and occipital encephalocele, was recently confirmed …