Search Results - "Skae, Mars S."

Increased Plasma Incretin Concentrations Identifies a Subset of Patients with Persistent Congenital Hyperinsulinism without KATP  Channel Gene Defects by Shi, Yanqin, PhD, Avatapalle, Hima B., MBChB, Skae, Mars S., MBChB, MPhil, Padidela, Raja, MD, Newbould, Melanie, FRCPath, Rigby, Lindsey, BSc, RGN, RSCN, Flanagan, Sarah E., PhD, Ellard, Sian, PhD, FRCPath, Rahier, Jacques, MD, PhD, Clayton, Peter E., MBChB, MD, Dunne, Mark J., PhD, Banerjee, Indraneel, MD, Cosgrove, Karen E., PhD

“…Congenital hyperinsulinism causes profound hypoglycemia, which may persist or resolve spontaneously. Among 13 children with congenital hyperinsulinism,…”
Get full text

A heterozygous microdeletion of 20p12.2–3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency by Parsons, Samuel J. H., Wright, Neville B., Burkitt‐Wright, Emma, Skae, Mars S., Murray, Phillip G.

“…Congenital growth hormone deficiency is a rare disorder with an incidence of approximately 1 in 4,000 live births. Pituitary development is under the control…”
Get full text

Can network biology unravel the aetiology of congenital hyperinsulinism? by Stevens, Adam, Cosgrove, Karen E, Padidela, Raja, Skae, Mars S, Clayton, Peter E, Banerjee, Indraneel, Dunne, Mark J

“…Congenital Hyperinsulinism is a condition with a number of genetic causes, but for the majority of patients, the underlying aetiology is unknown. We present…”
Get full text