… . Ried, K. et al. Characterization of a yeast artificial chromosome contig spanning the … &
Hayashi, K. Rapid and sensitive detection of point mutations and pohymorphisms using the …

Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new
form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, …

Background X-linked hypophosphataemia in children is characterised by elevated serum
concentrations of fibroblast growth factor 23 (FGF23), hypophosphataemia, rickets, lower …

We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with
the HDR syndrome (hypoparathyroidism, sensorineuraldeafness, andrenal dysplasia) (MIM …

We report on clinical features in 14 Japanese patients (4 males and 10 females) with partial
monosomy of the short arm pseudoautosomal region involving SHOX (n = 11) or total …

Although clinical features of Turner syndrome have primarily been explained by the dosage
effects of SHOX (short stature homeobox-containing gene) and the putative lymphogenic …

Materials and Methods Materials. Biochemical reagents were obtained from sources as follows:
Klenow fragment of Escherichia coli DNA polymerase I, DNA ligation kit, Ml3 cloning and …

Context: Gene mutations of transcription factors that are predominantly expressed in the thyroid
gland cause congenital hypothyroidism (CH). The prevalence of CH due to transcription …

Context: Although recent studies have suggested a positive role of OTX2 in pituitary as well
as ocular development and function, detailed pituitary phenotypes in OTX2 mutations and …

Context: Inborn errors of thyroid hormone biosynthesis are collectively referred to as thyroid
dyshormonogenesis (DH). Seven genes have been implicated in DH, including the dual …