Context: Pseudohypoparathyroidism type 1b (PHP1b) is the result of end-organ resistance
to PTH and other hormones such as TSH in the absence of any features of Albright's …

Desmoid tumors are slowly growing fibrous tumors highly resistant to therapy and often fatal.
Here, we report hereditary desmoid disease (HDD), a novel autosomal dominant trait with …

This study was an investigation of 79 patients referred to the Wessex Regional Genetics
Laboratory with suspected Russell–Silver Syndrome or unexplained short stature/intra …

The major histocompatibility complex (MHC) encodes several classes of protein vital to the
regulation of the immune response. We have isolated 26 class I genes that map to this …

Silver-Russell syndrome (SRS) has been associated with maternal uniparental disomy
(UPD) of chromosome 7 in approximately 10% of cases, suggesting that at least one …

Silver–Russell syndrome (SRS) is a clinically heterogeneous disorder characterised mainly
by intrauterine and postnatal growth retardation. While maternal uniparental disomy of …

Malathion (OO-dimethyl-S-[1, 2-carbethoxyethyl] phosphorodithionate), DEET (NN-diethyl-m-
toluamide), and permethrin [(±)-cis/trans-3-(2, 2-dichloroethenyl)-2, 2-dimethylcyclopropane …

The fragile X mutation can now be recognised by a variety of molecular techniques. We
report a pilot screening survey of a population of children with mental impairment in which …

The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14
(UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists …

A genomic library of Erwinia chrysanthemi DNA was constructed in bacteriophage λ1059
and recombinants expressing Er. chrysanthemi asparaginase detected using purified anti …