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

מאת Rubio-Cabezas, Oscar, Ellard, Sian
יצא לאור 2013

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

מאת Rubio-Cabezas, Oscar, Gómez, José Luis, Gleisner, Andrea, Hattersley, Andrew T., Codner, Ethel
הוצא לאור ב J Clin Endocrinol Metab (2016)

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

מאת Rubio-Cabezas, Oscar, Minton, Jayne A.L., Kantor, Iren, Williams, Denise, Ellard, Sian, Hattersley, Andrew T.
יצא לאור 2010

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

מאת Rubio-Cabezas, Oscar, Codner, Ethel, Flanagan, Sarah E., Gómez, José L., Ellard, Sian, Hattersley, Andrew T.
יצא לאור 2014

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

מאת Garin, Intza, Perez de Nanclares, Guiomar, Gastaldo, Elena, Harries, Lorna W., Rubio-Cabezas, Oscar, Castaño, Luis
יצא לאור 2012

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

מאת Rubio-Cabezas, Oscar, Jensen, Jan N., Hodgson, Maria I., Codner, Ethel, Ellard, Sian, Serup, Palle, Hattersley, Andrew T.
יצא לאור 2011

Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide: A previously unreported side effect

מאת Kumaraguru, Janani, Flanagan, Sarah E., Greeley, Siri Atma W., Nuboer, Roos, Støy, Julie, Philipson, Louis H., Hattersley, Andrew T., Rubio-Cabezas, Oscar
יצא לאור 2009

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

מאת García-Herrero, Carmen-María, Rubio-Cabezas, Oscar, Azriel, Sharona, Gutierrez-Nogués, Angel, Aragonés, Angel, Vincent, Olivier, Campos-Barros, Angel, Argente, Jesús, Navas, María-Angeles
יצא לאור 2012

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

מאת 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.
יצא לאור 2009

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

מאת 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, Hattersley, Andrew T., Ellard, Sian
יצא לאור 2009

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

מאת Flanagan, Sarah E., De Franco, Elisa, Lango Allen, Hana, Zerah, Michele, Abdul-Rasoul, Majedah M., Edge, Julie A., Stewart, Helen, Alamiri, Elham, Hussain, Khalid, Wallis, Sam, de Vries, Liat, Rubio-Cabezas, Oscar, Houghton, Jayne A.L., Edghill, Emma L., Patch, Ann-Marie, Ellard, Sian, Hattersley, Andrew T.
יצא לאור 2014

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

מאת 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, Cinti, Saverio, Czech, Michael P, Argente, Jesús, O'Rahilly, Stephen, Savage, David B
יצא לאור 2009

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

מאת Garin, Intza, Edghill, Emma L., Akerman, Ildem, Rubio-Cabezas, Oscar, Rica, Itxaso, Locke, Jonathan M., Maestro, Miguel Angel, Alshaikh, Adnan, Bundak, Ruveyde, del Castillo, Gabriel, Deeb, Asma, Deiss, Dorothee, Fernandez, Juan M., Godbole, Koumudi, Hussain, Khalid, O’Connell, Michele, Klupa, Thomasz, Kolouskova, Stanislava, Mohsin, Fauzia, Perlman, Kusiel, Sumnik, Zdenek, Rial, Jose M., Ugarte, Estibaliz, Vasanthi, Thiruvengadam, Johnstone, Karen, Flanagan, Sarah E., Martínez, Rosa, Castaño, Carlos, Patch, Ann-Marie, Fernández-Rebollo, Eduardo, Raile, Klemens, Morgan, Noel, Harries, Lorna W., Castaño, Luis, Ellard, Sian, Ferrer, Jorge, de Nanclares, Guiomar Perez, Hattersley, Andrew T.
יצא לאור 2010