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Page 1
Mutations in MAFA and IAPP are not a common cause of monogenic diabetes.
Garin I, Martinez R, de las Heras J, Perez-Nanclares G, Castano L, Perez de Nanclares G; Spanish GEDIMO Group. Garin I, et al. Among authors: martinez r. Diabet Med. 2009 Jul;26(7):746-8. doi: 10.1111/j.1464-5491.2009.02758.x. Diabet Med. 2009. PMID: 19573128 No abstract available.
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group; Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT. Garin I, et al. Among authors: martinez r. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. doi: 10.1073/pnas.0910533107. Epub 2010 Jan 28. Proc Natl Acad Sci U S A. 2010. PMID: 20133622 Free PMC article.
Heterozygous glucokinase mutations and birth weight in Spanish children.
de Las Heras J, Martínez R, Rica I, de Nanclares GP, Vela A, Castaño L; Spanish MODY group. de Las Heras J, et al. Among authors: martinez r. Diabet Med. 2010 May;27(5):608-10. doi: 10.1111/j.1464-5491.2010.02953.x. Diabet Med. 2010. PMID: 20536962 No abstract available.
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A, Philippe J, Durand E, Muller J, Saeed S, Arslan M, Martínez R, De Graeve F, Dhennin V, Rabearivelo I, Polak M, Cavé H, Castaño L, Vaxillaire M, Mandel JL, Sand O, Froguel P. Bonnefond A, et al. Among authors: martinez r. Diabetes Care. 2014 Feb;37(2):460-7. doi: 10.2337/dc13-0698. Epub 2013 Sep 16. Diabetes Care. 2014. PMID: 24041679
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
Urrutia I, Martínez R, Rica I, Martínez de LaPiscina I, García-Castaño A, Aguayo A, Calvo B, Castaño L; Spanish Pediatric Diabetes Collaborative Group. Urrutia I, et al. Among authors: martinez r, martinez de lapiscina i. PLoS One. 2019 Jul 31;14(7):e0220634. doi: 10.1371/journal.pone.0220634. eCollection 2019. PLoS One. 2019. PMID: 31365591 Free PMC article.
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.
García-Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, Martínez R, Martinez de LaPiscina I, Urrutia I, Aguayo A, Velasco O; Familial neurohypophyseal diabetes insipidus Spanish working group; Castaño L. García-Castaño A, et al. Among authors: martinez r, martinez de lapiscina i. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgaa069. doi: 10.1210/clinem/dgaa069. J Clin Endocrinol Metab. 2020. PMID: 32052034
3,247 results