Works by Rubio-Cabezas, Oscar

Results: 21

Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options.

Published in:

Hormone Research in Paediatrics, 2013, v. 80, n. 3, p. 137, doi. 10.1159/000354219

By:

Rubio-Cabezas, Oscar;
Ellard, Sian

Publication type:

Article

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

Published in:

2009

By:

Kumaraguru J;
Flanagan SE;
Greeley SA;
Nuboer R;
Støy J;
Philipson LH;
Hattersley AT;
Rubio-Cabezas O;
Kumaraguru, Janani;
Flanagan, Sarah E;
Greeley, Siri Atma W;
Nuboer, Roos;
Støy, Julie;
Philipson, Louis H;
Hattersley, Andrew T;
Rubio-Cabezas, Oscar

Publication type:

journal article

Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide.

Published in:

Diabetes Care, 2009, v. 32, n. 8, p. 1428, doi. 10.2337/dc09-0280

By:

Kumaraguru, Janani;
Flanagan, Sarah E.;
Greeley, Siri Atma W.;
Nuboer, Roos;
Støy, Julie;
Philipson, Louis H.;
Hattersley, Andrew T.;
Rubio-Cabezas, Oscar

Publication type:

Article

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes.

Published in:

Diabetes Care, 2009, v. 32, n. 1, p. 111, doi. 10.2337/dc08-1188

By:

Rubio-Cabezas, Oscar;
Minton, Jayne A.L.;
Caswell, Richard;
Shield, Julian P.;
Deiss, Dorothee;
Sumnik, Zdenek;
Cayssials, Amely;
Herr, Mathias;
Loew, Anja;
Lewis, Vaughan;
Ellard, Sian;
Hattersley, Andrew T.

Publication type:

Article

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.

Published in:

Pediatric Diabetes, 2018, v. 19, p. 47, doi. 10.1111/pedi.12772

By:

Hattersley, Andrew T.;
Greeley, Siri A. W.;
Polak, Michel;
Rubio‐Cabezas, Oscar;
Njølstad, Pål R.;
Mlynarski, Wojciech;
Castano, Luis;
Carlsson, Annelie;
Raile, Klemens;
Chi, Dung V.;
Ellard, Sian;
Craig, Maria E.

Publication type:

Article

The diagnosis and management of monogenic diabetes in children and adolescents.

Published in:

Pediatric Diabetes, 2014, v. 15, p. 47, doi. 10.1111/pedi.12192

By:

Rubio ‐ Cabezas, Oscar;
Hattersley, Andrew T;
Njølstad, Pål R;
Mlynarski, Wojciech;
Ellard, Sian;
White, Neil;
Chi, Dung Vu;
Craig, Maria E

Publication type:

Article

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

Published in:

Pediatric Diabetes, 2012, v. 13, n. 6, p. e26, doi. 10.1111/j.1399-5448.2011.00809.x

By:

Rachmiel, Marianna;
Rubio-Cabezas, Oscar;
Ellard, Sian;
Hattersley, Andrew T;
Perlman, Kusiel

Publication type:

Article

K<sub>ATP</sub> channel mutations in infants with permanent diabetes diagnosed after 6 months of life.

Published in:

Pediatric Diabetes, 2012, v. 13, n. 4, p. 315, doi. 10.1111/j.1399-5448.2011.00824.x

By:

Rubio-Cabezas, Oscar;
Flanagan, Sarah E;
Damhuis, Annet;
Hattersley, Andrew T;
Ellard, Sian

Publication type:

Article

Diagnosing monogenic diabetes: common misinterpretations of genetic findings.

Published in:

Pediatric Diabetes, 2009, v. 10, n. 8, p. 497, doi. 10.1111/j.1399-5448.2009.00560.x

By:

Rubio-Cabezas, Oscar

Publication type:

Article

Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1565, doi. 10.1007/s00431-013-2110-8

By:

Ersoy, Betül;
Özhan, Bayram;
Kiremitçi, Seniha;
Rubio-Cabezas, Oscar;
Ellard, Sian

Publication type:

Article

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.

Published in:

EMBO Molecular Medicine, 2009, v. 1, n. 5, p. 280, doi. 10.1002/emmm.200900037

By:

Rubio-Cabezas, Oscar;
Puri, Vishwajeet;
Murano, Incoronata;
Saudek, Vladimir;
Semple, Robert K.;
Dash, Satya;
Hyden, Caroline S. S.;
Bottomley, William;
Vigouroux, Corinne;
Magré, Jocelyne;
Raymond-Barker, Philippa;
Murgatroyd, Peter R.;
Chawla, Anil;
Skepper, Jeremy N.;
Chatterjee, V. Krishna;
Suliman, Sara;
Patch, Ann-Marie;
Agarwal, Anil K.;
Garg, Abhimanyu;
Barroso, Inês

Publication type:

Article

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency.

Published in:

2016

By:

Rubio-Cabezas, Oscar;
Gómez, José Luis;
Gleisner, Andrea;
Hattersley, Andrew T;
Codner, Ethel

Publication type:

journal article

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

Published in:

2009

By:

Rubio-Cabezas, Oscar;
Patch, Ann-Marie;
Minton, Jayne A L;
Flanagan, Sarah E;
Edghill, Emma L;
Hussain, Khalid;
Balafrej, Amina;
Deeb, Asma;
Buchanan, Charles R;
Jefferson, Ian G;
Mutair, Angham;
Neonatal Diabetes International Collaborative Group;
Hattersley, Andrew T;
Ellard, Sian

Publication type:

journal article

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

Published in:

European Journal of Endocrinology, 2012, v. 167, n. 3, p. 417, doi. 10.1530/EJE-12-0227

By:

Fraser, Clementine S.;
Rubio-Cabezas, Oscar;
Littlechild, Jennifer A.;
Ellard, Sian;
Hattersley, Andrew T.;
Flanagan, Sarah E.

Publication type:

Article

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

Published in:

Diabetes, 2011, v. 60, n. 4, p. 1349, doi. 10.2337/db10-1008

By:

Rubio-Cabezas, Oscar;
Jensen, Jan N.;
Hodgson, Maria I.;
Codner, Ethel;
Ellard, Sian;
Serup, Palle;
Hattersley, Andrew T.

Publication type:

Article

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities.

Published in:

Diabetes, 2010, v. 59, n. 9, p. 2326, doi. 10.2337/db10-0011

By:

Rubio-Cabezas, Oscar;
Minton, Jayne A. L.;
Kantor, Iren;
Williams, Denise;
Ellard, Sian;
Hattersley, Andrew T.

Publication type:

Article

Neurogenin 3 is important but not essential for pancreatic islet development in humans.

Published in:

2014

By:

Rubio-Cabezas, Oscar;
Codner, Ethel;
Flanagan, Sarah;
Gómez, José;
Ellard, Sian;
Hattersley, Andrew

Publication type:

Letter

Functional Characterization of MODY2 Mutations Highlights the Importance of the Fine-Tuning of Glucokinase and Its Role in Glucose Sensing.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030518

By:

García-Herrero, Carmen-María;
Rubio-Cabezas, Oscar;
Azriel, Sharona;
Gutierrez-Nogués, Angel;
Aragonés, Angel;
Vincent, Olivier;
Campos-Barros, Angel;
Argente, Jesús;
Navas, María-Angeles

Publication type:

Article

Permanent Neonatal Diabetes Caused by Creation of an Ectopic Splice Site within the INS Gene.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029205

By:

Garin, Intza;
de Nanclares, Guiomar Perez;
Gastaldo, Elena;
Harries, Lorna W.;
Rubio-Cabezas, Oscar;
Castaño, Luis

Publication type:

Article

Permanent neonatal diabetes mellitus - the importance of diabetes differential diagnosis in neonates and infants.

Published in:

European Journal of Clinical Investigation, 2011, v. 41, n. 3, p. 323, doi. 10.1111/j.1365-2362.2010.02409.x

By:

Rubio-Cabezas, Oscar;
Klupa, Tomasz;
Malecki, Maciej T.

Publication type:

Article

Current Insights into the Genetic Basis of Diabetes Mellitus in Children and Adolescents.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 10, p. 917

By:

Rubio-Cabezas, Óscar;
Argente, Jesús

Publication type:

Article