Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper
describes several genetic diseases consistently associated with autism (fragile X, tuberous …

… (a–d) Facial views of a boy with CLS at different ages showing evolution during infancy of …
RSK2 is also a specific modulator of phospholipase D activity in calcium-regulated exocytosis. …

Background Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is
a multisystem inborn error of metabolism. Objectives To better characterise the natural …

… (d) Using quantitative fluorescent PCR, we mapped the breakpoint between the genes
ALG12 and MLC1. The dosage quotient has a theoretical value of 0.5 for a deletion and 1.5 for a …

… E) and probably deleted in another US family with NSTs (families D). However, it could be
hypothesized that these two US families D and E, like the two UK families A and B (see ref. 9), …

… c Average GERP score for two sites flanking the insertion or average GERP score for
deleted nucleotides; d Maximum Grantham score (215) given for splice, non-sense and …

Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance,
heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello …

Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …

… We have also observed that the binding of 3H-labeled [D-ala]enkephalin and [3H]naloxone
to the opiate receptor is modulated by changes in membrane lipid fluidity (23). The changes …

… D Sanlaville1, … D Heron3, … Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T,
Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM…