Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.

JC Barber, KH Ellis, LV Bowles, JD Delhanty… - Journal of medical …, 1994 - jmg.bmj.com
We present the clinical and laboratory findings in an institutionalised adult patient originally
referred for autism. A high risk of colorectal cancer was predicted when an interstitial …

Diagnosis of sex in preimplantation embryos by fluorescent in situ hybridisation.

DK Griffin, LJ Wilton, AH Handyside… - BMJ: British Medical …, 1993 - ncbi.nlm.nih.gov
Methods and results Six couples at risk of transmitting an X linked disorder underwent seven
cycles of routine in vitro fertilisation treatment, and biopsy specimens of one or two cells …

Mechanisms in endocrinology: Ghrelin: the differences between acyl-and des-acyl ghrelin

PJD Delhanty, SJ Neggers… - European journal of …, 2012 - academic.oup.com
Des-acyl ghrelin (DAG) is one of the three preproghrelin gene-encoded peptides. Compared
with ghrelin and obestatin, it has not received the attention it deserves. DAG has long been …

Ghrelin and glucose homeostasis

PJD Delhanty, AJ van der Lely - Peptides, 2011 - Elsevier
Ghrelin plays an important physiological role in modulating GH secretion, insulin secretion
and glucose metabolism. Ghrelin has direct effects on pancreatic islet function. Also, ghrelin …

Preimplantation genetic diagnosis

J Harper, JD Delhanty - 2009 - books.google.com
The detection of genetic disease in the human embryo before implantation gives parents the
chance of starting a pregnancy knowing that the baby will be free of the inherited disorder …

Specific chromosome aberrations in ataxia telangiectasia.

JM Oxford, DG Harnden, JM Parrington… - Journal of Medical …, 1975 - jmg.bmj.com
Cytogenetic observations on seven cases of ataxia telangiectasia are presented. The
aberration frequency was found to be increased in all of them with a specificity for the …

Ghrelin stimulates, whereas des-octanoyl ghrelin inhibits, glucose output by primary hepatocytes

C Gauna, PJD Delhanty, LJ Hofland… - The Journal of …, 2005 - academic.oup.com
Ghrelin exerts various metabolic activities, including regulation of glucose levels in humans.
To verify whether the glucose response to ghrelin reflects a modulation of an insulin …

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.

I Borg, JD Delhanty, M Baraitser - Journal of medical genetics, 1995 - jmg.bmj.com
A small pilot study has been carried out in order to assess the reliability of the detection of
hemizygosity at the elastin locus by fluorescence in situ hybridisation (FISH) analysis, as a …

Administration of acylated ghrelin reduces insulin sensitivity, whereas the combination of acylated plus unacylated ghrelin strongly improves insulin sensitivity

C Gauna, FM Meyler, J Janssen… - The Journal of …, 2004 - academic.oup.com
We investigated the metabolic actions of ghrelin in humans by examining the effects of acute
administration of acylated ghrelin, unacylated ghrelin, and the combination in eight adult …

Metformin rapidly increases insulin receptor activation in human liver and signals preferentially through insulin-receptor substrate-2

JE Gunton, PJD Delhanty, SI Takahashi… - The Journal of …, 2003 - academic.oup.com
Metformin decreases endogenous glucose production by the liver. Few studies have
examined the effect of metformin on the insulin-signaling pathway in liver models, and none …