antrg.umcn.nl Conclusion Patients with Lynch syndrome carrying an MSH2 mutation are at increased risk of urinary tract cancer including bladder cancer. In these cases surveillance should be considered ...

How many Broadway shows has John Rubinstein been in? John Rubinstein has appeared on Broadway in 11 shows. How many West End shows has John Rubinstein been in? John Rubinstein has not appeared in ...

We extracted genomic DNA from peripheral blood leucocytes or fetal tissue and undertook mutation screening by SSCP. We sequenced PCR fragments showing aberrant migration patterns. We tested the ...

by analyzing the structure of their coding gene in patients with sporadic nephrotic syndrome in childhood. One novel missense mutation (Q453R), 1 known missense mutation (R800C), and 3 known ...

The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical ...

Shprintzen–Goldberg syndrome (SGS) is a multisystemic connective tissue ... In SGS patients, heterozygous point mutations have been mapped to the transcriptional co-repressor SKI, which is a negative ...

Several gene mutations have been identified that affect these systems and are causal for neurodevelopmental diseases. Examples include Rubinstein-Taybi Syndrome, KAT6A syndrome, Genitopatellar ...