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1

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

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, Cr

Journal:

Pediatric Diabetes

Year:

2018

Language:

english

File:

PDF, 1.34 MB

english, 2018

2

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

Oscar Rubio-Cabezas, Vishwajeet Puri, Incoronata Murano, Vladimir Saudek, Robert K. Semple, Satya Dash, Caroline S. S. Hyden, William Bottomley, Corinne Vigouroux, Jocelyne Magré, Philippa Raymond-Bar

Journal:

EMBO Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 498 KB

english, 2009

3

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

Oscar Rubio-Cabezas, Tomasz Klupa, Maciej T. Malecki, CEED3 Consortium

Journal:

European Journal of Clinical Investigation

Year:

2011

Language:

english

File:

PDF, 190 KB

english, 2011

4

Diagnosing monogenic diabetes: common misinterpretations of genetic findings

Oscar Rubio-Cabezas

Journal:

Pediatric Diabetes

Year:

2009

Language:

english

File:

PDF, 449 KB

english, 2009

5

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

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

Journal:

Pediatric Diabetes

Year:

2012

Language:

english

File:

PDF, 477 KB

english, 2012

6

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

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

Journal:

Pediatric Diabetes

Year:

2012

Language:

english

File:

PDF, 542 KB

english, 2012

7

Diabetes mellitus en la infancia: una enfermedad heterogénea

Óscar Rubio Cabezas, Jesús Argente Oliver

Journal:

Medicina Clínica

Year:

2007

Language:

spanish

File:

PDF, 87 KB

spanish, 2007

8

Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome

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

Journal:

European Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 439 KB

english, 2014

9

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

Rubio-Cabezas, Oscar, Codner, Ethel, Flanagan, Sarah E., Gómez, José L., Ellard, Sian, Hattersley, Andrew T.

Journal:

Year:

2014

Language:

english

File:

PDF, 117 KB

english, 2014

10

The diagnosis and management of monogenic diabetes in children and adolescents

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

Journal:

Pediatric Diabetes

Year:

2014

Language:

english

File:

PDF, 580 KB

english, 2014

11

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

Rubio-Cabezas, Oscar, Ellard, Sian

Journal:

Hormone Research in Paediatrics

Year:

2013

Language:

english

File:

PDF, 1.06 MB

english, 2013

12

Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

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

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2009

Language:

english

File:

PDF, 183 KB

english, 2009

13

Recessive Mutations in the INS Gene Result in Neonatal Diabetes through Reduced Insulin Biosynthesis

Intza Garin, Emma L. Edghill, Ildem Akerman, Oscar Rubio-Cabezas, Itxaso Rica, Jonathan M. Locke, Miguel Angel Maestro, Adnan Alshaikh, Ruveyde Bundak, Gabriel del Castillo, Asma Deeb, Dorothee Deiss,

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.41 MB

english, 2010

14

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

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

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2016

Language:

english

File:

PDF, 486 KB

english, 2016

15

Early diagnosis of CAPOS syndrome before acute-onset ataxia - review of the literature and a new family

Rodriguez, Anna Duat, Prochazkova, Michaela, Santos, Saturnino Santos, Cabezas, Oscar Rubio, Extremera, Veronica Cantarin, Gonzalez-Gutierrez-Solana, Luis

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 400 KB

english, 2017

16

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Cabezas, Oscar Rubio, Flanagan, Sarah E., Stanescu, Horia, García-Martínez, Elena, Caswell, Richard, Lango-Allen, Hana, Antón-Gamero, Montserrat, Argente, Jesús, Bussell, Anna-Marie, Brandli, Andre, C

Journal:

Journal of the American Society of Nephrology

Year:

2017

Language:

english

File:

PDF, 1.20 MB

english, 2017

17

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

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

Journal:

Year:

2012

Language:

english

File:

PDF, 705 KB

english, 2012

18

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

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

Journal:

Year:

2012

Language:

english

File:

PDF, 838 KB

english, 2012

19

SO030POLYCYSTIC KIDNEY DISEASE WITH HYPERINSULINAEMIC HYPOGLYCAEMIA AND A PROMOTER MUTATION IN PMM2

Rubio Cabezas, Oscar, Flanagan, Sarah, Stanescu, Horia, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef

Journal:

Nephrology Dialysis Transplantation

Year:

2017

Language:

english

File:

PDF, 71 KB

english, 2017

20

SO030POLYCYSTIC KIDNEY DISEASE WITH HYPERINSULINAEMIC HYPOGLYCAEMIA AND A PROMOTER MUTATION IN PMM2

Rubio Cabezas, Oscar, Flanagan, Sarah, Stanescu, Horia, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef

Journal:

Nephrology Dialysis Transplantation

Year:

2017

File:

PDF, 71 KB

2017