Rubio-Cabezas O - Search Results

1

KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life.

Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S. Rubio-Cabezas O, et al. Pediatr Diabetes. 2012 Jun;13(4):322-5. doi: 10.1111/j.1399-5448.2011.00824.x. Epub 2011 Oct 10. Pediatr Diabetes. 2012. PMID: 21981029

2

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.

Rubio-Cabezas O, Minton JA, Kantor I, Williams D, Ellard S, Hattersley AT. Rubio-Cabezas O, et al. Diabetes. 2010 Sep;59(9):2326-31. doi: 10.2337/db10-0011. Epub 2010 Jun 23. Diabetes. 2010. PMID: 20573748 Free PMC article.

3

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

Rubio-Cabezas O, Jensen JN, Hodgson MI, Codner E, Ellard S, Serup P, Hattersley AT. Rubio-Cabezas O, et al. Diabetes. 2011 Apr;60(4):1349-53. doi: 10.2337/db10-1008. Epub 2011 Mar 4. Diabetes. 2011. PMID: 21378176 Free PMC article.

4

Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.

Fraser CS, Rubio-Cabezas O, Littlechild JA, Ellard S, Hattersley AT, Flanagan SE. Fraser CS, et al. Eur J Endocrinol. 2012 Sep;167(3):417-21. doi: 10.1530/EJE-12-0227. Epub 2012 May 30. Eur J Endocrinol. 2012. PMID: 22648966

5

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

Rubio-Cabezas O, Minton JA, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, Ellard S, Hattersley AT. Rubio-Cabezas O, et al. Diabetes Care. 2009 Jan;32(1):111-6. doi: 10.2337/dc08-1188. Epub 2008 Oct 17. Diabetes Care. 2009. PMID: 18931102 Free PMC article.

6

Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.

Kumaraguru J, Flanagan SE, Greeley SA, Nuboer R, Støy J, Philipson LH, Hattersley AT, Rubio-Cabezas O. Kumaraguru J, et al. Diabetes Care. 2009 Aug;32(8):1428-30. doi: 10.2337/dc09-0280. Epub 2009 May 12. Diabetes Care. 2009. PMID: 19435956 Free PMC article.

7

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group; Hattersley AT, Ellard S. Rubio-Cabezas O, et al. J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. doi: 10.1210/jc.2009-1137. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837917 Free PMC article.

8

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.

Edghill EL, Minton JA, Groves CJ, Flanagan SE, Patch AM, Rubio-Cabezas O, Shepherd M, Lenzen S, McCarthy MI, Ellard S, Hattersley AT. Edghill EL, et al. JOP. 2010 Jan 8;11(1):14-7. JOP. 2010. PMID: 20065546

9

Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.

Rachmiel M, Rubio-Cabezas O, Ellard S, Hattersley AT, Perlman K. Rachmiel M, et al. Pediatr Diabetes. 2012 Sep;13(6):e26-9. doi: 10.1111/j.1399-5448.2011.00809.x. Epub 2011 Sep 13. Pediatr Diabetes. 2012. PMID: 21910811

10

Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.

Rubio-Cabezas O, Ellard S. Rubio-Cabezas O, et al. Horm Res Paediatr. 2013;80(3):137-46. doi: 10.1159/000354219. Epub 2013 Sep 18. Horm Res Paediatr. 2013. PMID: 24051999 Free PMC article. Review.

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