Chinese characters: Semantic and phonetic regularity norms for China, Singapore, and Taiwan

Behavior Research Methods, Instruments, and Computers311155-17

Are visual search procedures adapted to the nature of the script?

British Journal of Psychology872311-32

Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy

10.1136/jmedgenet-2012-100858Journal of Medical Genetics4911689 - 697JMDGAGUSTO (Growing up towards Healthy Outcomes)GUSTO (Growing up towards Healthy Outcomes)GUSTO (Growing up towards Healthy Outcomes

Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1

Leukocyte adhesion deficiency 1 (LAD-1) is caused by defects in the β2 integrin subunit. We studied 18 missense mutations, 14 of which fail to support the surface expression of the β2 integrins. Integrins with the β2-G150D mutation fail to bind ligands, possibly due to the failure of the α1 segment of the βI domain to assume an α-helical structure. Integrins with the β2-G716A mutation are not maintained in their resting states, and the patient has the severe phenotype of LAD-1. The β2-S453N and β2-P648L mutants support the expression of integrins and adhesion functions. They should be re-classified as polymorphic variants.Accepted versio