Now showing items 61-70 of 472
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome Communicated by Gregg Semenza Online Citation: Human Mutation , Mutation in Brief #507 (2001) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/507.pdf
(Wiley Subscription Services, Inc., A Wiley Company, 2002-05)
Guttmacher syndrome, a dominantly inherited combination of distal limb and genital tract abnormalities, has several features in common with hand-foot-genital syndrome (HFGS), including hypoplastic first digits and hypospadias. ...
Results of balloon valvuloplasty in the treatment of congenital valvar pulmonary stenosis in children
(Elsevier, 1985-09-15)
Transluminal balloon valvuloplasty was used in the treatment of congenital valvar pulmonary stenosis in 19 children, aged 5 months to 18 years. The right ventricular (RV) systolic pressure and RV outflow tract gradient ...
Evolution of N-terminal sequences of the vertebrate HOXA13 protein
(Springer-Verlag; Springer-Verlag New York Inc., 2000-02)
While the the role of the homeodomain in HOX function has been evaluated extensively, little attention has been given to the non-homeodomain portions of the HOX proteins. To investigate the evolution of the HOXA13 protein ...
Anterograde Transvenous Balloon Angioplasty of Recurrent Coarctation in Infancy
(Blackwell Publishing Ltd, 1988-06)
Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme
(Springer-Verlag, 1986-02)
In three infants with neonatal lacticacidaemia, a deficiency in the E 1 (pyruvate dehydrogenase) component of the pyruvate dehydrogenase complex was demonstrated in skin fibroblast cultures. Residual activites of the ...
Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine
(Springer-Verlag; IPNA, 1990-03)
The predicted reciprocal creatinine at age 10 years (PRC 10 ), a parameter of renal function based upon the linear relationship between reciprocal serum creatinine and age, incorporates age, serum creatinine, and rate of ...
Phosphoinositide metabolism and prostacyclin formation in retinal microvascular endothelium: Stimulation by adenine nucleotides
(Elsevier, 1990-01)
Phosphoinositide lipid metabolism and prostacyclin production are implicated in endothelium dependent vascular relaxation in large blood vessels. To determine if these biochemical pathways might be involved in the regulation ...
Progress in the molecular biology of inherited bleeding disorders
(Blackwell Publishing Ltd, 2008-07)
Juberg–Hayward syndrome: Report of a new patient with severe phenotype and novel clinical features
(Wiley Subscription Services, Inc., A Wiley Company, 2003-10-15)
We report a patient with severe mental retardation (MR), microcephaly, Dandy–Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, ...