Publications by authors named "Ana-Coral Barreda-Bonis"

3 Publications

  • Page 1 of 1

Multiple SLC26A2 mutations occurring in a three-generational family.

Authors:
Ana Coral Barreda-Bonis Jimena Barraza-García Manuel Parrón Ignacio Pastor Karen E Heath Isabel González-Casado

Eur J Med Genet 2018 Jan 10;61(1):24-28. Epub 2017 Oct 10.

Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain; Dept. of Paediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Spain.

View Article and Find Full Text PDF
January 2018

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Authors:
Sarah M Leiter Victoria E R Parker Alena Welters Rachel Knox Nuno Rocha Graeme Clark Felicity Payne Luca Lotta Julie Harris Julio Guerrero-Fernández Isabel González-Casado Sixto García-Miñaur Gema Gordo Nick Wareham Víctor Martínez-Glez Michael Allison Stephen O'Rahilly Inês Barroso Thomas Meissner Susan Davies Khalid Hussain Karen Temple Ana-Coral Barreda-Bonis Sebastian Kummer Robert K Semple

Eur J Endocrinol 2017 Aug 31;177(2):175-186. Epub 2017 May 31.

Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.

View Article and Find Full Text PDF
August 2017

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

Authors:
Miriam Aza-Carmona Ana Coral Barreda-Bonis Julio Guerrero-Fernández Isabel González-Casado Ricardo Gracia Karen E Heath

J Pediatr Endocrinol Metab 2011 ;24(5-6):395-7

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.

View Article and Find Full Text PDF
August 2011